Gene: FBN1

Alternate names for this Gene: ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2

Gene Summary: This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.1

Description of this Gene: fibrillin 1

Type of Gene: protein-coding

rs627634 in FBN1 gene and Alcohol consumption PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs595244 in FBN1 gene and Aortic Aneurysm, Abdominal PMID 27418160 2016 Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

rs1036476 in FBN1 gene and Aortic Aneurysm, Thoracic PMID 21909107 2011 Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

PMID 27418160 2016 Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

rs2247876 in FBN1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs8030753 in FBN1 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs113001196 in FBN1 gene and Dysmorphic features PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.

PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

PMID 21594992 2011 Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.

PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.

PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

PMID 24635535 2015 The revised ghent nosology; reclassifying isolated ectopia lentis.

PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 14598350 2003 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

rs137854464 in FBN1 gene and ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 8188302 1994 A novel mutation of the fibrillin gene causing ectopia lentis.

PMID 17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

PMID 12203992 2002 TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

PMID 11826022 2002 Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

PMID 22237449 2012 Evaluation of the adolescent or adult with some features of Marfan syndrome.

rs1057518881 in FBN1 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 19349279 2009 Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.

PMID 24501682 2013 Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 28973303 2017 FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 27611364 2016 Genetic testing of 248 Chinese aortopathy patients using a panel assay.

PMID 16905551 2006 Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.

PMID 19293843 2009 Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

PMID 27437668 2016 FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.

PMID 10930463 2000 Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta.

PMID 27906200 2017 Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

PMID 21542060 2011 Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

PMID 26281765 2015 Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.

PMID 24698609 2014 Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.

PMID 12203992 2002 TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

PMID 19353630 2009 Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

PMID 7611299 1995 Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

PMID 26410935 2015 [Clinical and Genetic Characteristics of Russian Marfan Patients].

PMID 16677079 2006 Fibrillin-1 misfolding and disease.

PMID 10486319 1999 Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.

PMID 3495735 1987 The solution structure of human epidermal growth factor.

PMID 4750422 1973 Epidermal growth factor. Location of disulfide bonds.

PMID 17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

PMID 26770496 2015 Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.

PMID 12161601 2002 Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.

PMID 19839986 2009 Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.

PMID 29357934 2018 The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

PMID 17679947 2007 Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.

PMID 19941982 2010 Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

PMID 17627385 2007 Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.

PMID 17663468 2007 Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.

PMID 19863550 2010 Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 14695540 2004 Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

PMID 11139245 2001 Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.

PMID 16220557 2005 Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

PMID 24161884 2014 Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.

PMID 16222657 2005 Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

PMID 10464652 1999 Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.

PMID 10533071 1999 Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.

PMID 15161917 2004 Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.

PMID 27112580 2016 Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.

PMID 11826022 2002 Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

PMID 21895641 2012 Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.

PMID 12402346 2002 Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.

PMID 9241263 1997 Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.

PMID 17884807 2007 hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing.

PMID 16995940 2006 In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

PMID 19720936 2009 Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms.

PMID 17224687 2007 Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.

PMID 18435798 2008 FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

PMID 22772377 2013 Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.

PMID 23684891 2013 Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.

PMID 24793577 2014 The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

PMID 19618372 2009 Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.

PMID 16835936 2006 Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

PMID 19533785 2009 Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

PMID 10756346 2000 Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

PMID 12938084 2003 Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

PMID 27234404 2016 Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.

PMID 21907952 2011 Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene.

PMID 17718856 2007 Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

PMID 19159394 2009 Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.

PMID 24833718 2014 Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

PMID 30675029 2019 Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

PMID 11829507 2002 Effects of the N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1.

PMID 8504310 1993 A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.

PMID 7896820 1995 The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1.

PMID 10229672 1999 Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling.

PMID 20564469 2010 Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

PMID 9338581 1997 Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.

PMID 7911051 1994 Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.

PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

PMID 952872 1976 Synergistic activation of adenylate cyclase by guanylyl imidophosphate and epinephrine.

PMID 19802897 2010 Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.

PMID 7762551 1995 A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.

PMID 27893734 2017 An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death.

PMID 8136837 1994 Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.

PMID 27175573 2016 Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.

PMID 9837823 1998 Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

PMID 21784848 2011 Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.

PMID 10766875 2000 Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome.

PMID 17324963 2007 Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.

PMID 18079676 2007 A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

PMID 15054843 2004 Ectopia lentis phenotypes and the FBN1 gene.

PMID 26272055 2015 Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

PMID 2005308 1991 The funding crisis in biomedical research, Part I--Addressing the issue.

PMID 9399842 1998 Marfan Database (third edition): new mutations and new routines for the software.

PMID 19002209 2009 Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

PMID 11175294 2001 Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

PMID 11780406 2001 Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome.

PMID 28941062 2017 A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.

PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

PMID 24199744 2014 Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.

PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

PMID 19659760 2009 Neuromuscular features in Marfan syndrome.

PMID 25907466 2015 Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

PMID 15371449 2004 Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1.

PMID 11251996 2001 Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.

PMID 16596670 2006 FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

PMID 8884270 1996 A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.

PMID 18615205 2008 Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

PMID 16476890 2006 Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.

PMID 28855619 2017 Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

PMID 25966184 2015 A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.

PMID 21932315 2011 Ectopia lentis as the presenting and primary feature in Marfan syndrome.

PMID 9254848 1997 A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.

PMID 25652356 2015 Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.

PMID 22219643 2011 Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

PMID 27724990 2016 Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

PMID 10425041 1999 Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.

PMID 19012347 2008 The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.

PMID 19161152 2009 Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.

PMID 19293848 2009 Photonic logic by linear unidirectional interference.

PMID 22539340 2012 LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

PMID 21135753 2011 Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.

PMID 25900864 2015 Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.

PMID 16342915 2005 Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.

PMID 7977366 1994 A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

PMID 27884935 2017 Diagnostic value of exome and whole genome sequencing in craniosynostosis.

PMID 17680538 2007 [Two gene mutations in fibrillin 1 of Marfan syndrome].

PMID 25053872 2014 Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.

PMID 16765689 2006 Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.

PMID 22950452 2013 Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).

PMID 25944730 2015 Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

PMID 8406497 1993 Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

PMID 12068374 2002 Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

PMID 11391655 2001 FBN1 exon 2 splicing error in a patient with Marfan syndrome.

PMID 10721679 2000 Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.

PMID 10647894 1999 Molecular analysis of eight mutations in FBN1.

PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

PMID 8863159 1996 Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.

PMID 14586646 2004 Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.

PMID 22736615 2012 A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.

PMID 11524736 2001 Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.

PMID 24613577 2014 Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

PMID 26333736 2015 Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

PMID 17418587 2007 Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

PMID 8004112 1994 Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

PMID 11875032 2002 Accounting for human polymorphisms predicted to affect protein function.

PMID 22262941 2012 A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.

PMID 15733436 2004 [Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].

PMID 15821637 2005 Diagnostic power of aortic elastic properties in young patients with Marfan syndrome.

PMID 20886638 2010 The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

PMID 12700307 2003 Muscle fibrillin deficiency in Marfan's syndrome myopathy.

PMID 11933199 2002 Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.

PMID 26621581 2016 Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

PMID 28098115 2019 A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.

rs387906623 in FBN1 gene and GELEOPHYSIC DYSPLASIA 2 PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

rs1131691804 in FBN1 gene and Geleophysic dysplasia PMID 27245183 2016 Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

rs595244 in FBN1 gene and Intracranial Aneurysm PMID 27418160 2016 Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

rs1057518881 in FBN1 gene and Marfan Syndrome PMID 19349279 2009 Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.

PMID 28973303 2017 FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.

PMID 24501682 2013 Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

PMID 27611364 2016 Genetic testing of 248 Chinese aortopathy patients using a panel assay.

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 16905551 2006 Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 19293843 2009 Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

PMID 10930463 2000 Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta.

PMID 27437668 2016 FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.

PMID 21542060 2011 Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

PMID 27906200 2017 Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

PMID 12203992 2002 TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

PMID 24698609 2014 Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.

PMID 26281765 2015 Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.

PMID 19353630 2009 Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

PMID 7611299 1995 Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

PMID 26410935 2015 [Clinical and Genetic Characteristics of Russian Marfan Patients].

PMID 10486319 1999 Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.

PMID 3495735 1987 The solution structure of human epidermal growth factor.

PMID 16677079 2006 Fibrillin-1 misfolding and disease.

PMID 4750422 1973 Epidermal growth factor. Location of disulfide bonds.

PMID 17657824 2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

PMID 29357934 2018 The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

PMID 19839986 2009 Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.

PMID 12161601 2002 Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.

PMID 26770496 2015 Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.

PMID 22772377 2013 Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.

PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

PMID 19863550 2010 Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 11175294 2001 Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

PMID 18435798 2008 FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.

PMID 15054843 2004 Ectopia lentis phenotypes and the FBN1 gene.

PMID 17663468 2007 Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.

PMID 15184297 2004 Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.

PMID 22237449 2012 Evaluation of the adolescent or adult with some features of Marfan syndrome.

PMID 17679947 2007 Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.

PMID 14695540 2004 Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 25173340 2014 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 19941982 2010 Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

PMID 17188935 2007 Guidelines for the diagnosis and management of Marfan syndrome.

PMID 8909500 1996 Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.

PMID 17627385 2007 Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.

PMID 11139245 2001 Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.

PMID 16220557 2005 Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.

PMID 10647894 1999 Molecular analysis of eight mutations in FBN1.

PMID 24161884 2014 Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.

PMID 10533071 1999 Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.

PMID 16222657 2005 Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

PMID 10464652 1999 Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.

PMID 15161917 2004 Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.

PMID 11826022 2002 Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.

PMID 27112580 2016 Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.

PMID 21895641 2012 Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.

PMID 12402346 2002 Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.

PMID 19159394 2009 Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.

PMID 16995940 2006 In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

PMID 19720936 2009 Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms.

PMID 17224687 2007 Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.

PMID 17884807 2007 hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing.

PMID 9241263 1997 Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.

PMID 23684891 2013 Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.

PMID 21907952 2011 Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene.

PMID 24793577 2014 The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD).

PMID 25652356 2015 Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.

PMID 16835936 2006 Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.

PMID 19618372 2009 Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.

PMID 19533785 2009 Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

PMID 10756346 2000 Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

PMID 12938084 2003 Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

PMID 27234404 2016 Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.

PMID 17718856 2007 Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

PMID 19012347 2008 The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.

PMID 8406497 1993 Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

PMID 8071963 1994 A new missense mutation of fibrillin in a patient with Marfan syndrome.

PMID 8281141 1993 Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.

PMID 10425041 1999 Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.

PMID 9254848 1997 A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.

PMID 7738200 1995 A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

PMID 10441597 1999 Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

PMID 8004112 1994 Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.

PMID 7870075 1994 A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.

PMID 7951214 1994 Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.

PMID 11829507 2002 An MFS-causing mutation, N2144S, which removes a calcium ligand in cbEGF32, does not detectably affect fibrillin-1 biosynthesis, rate of secretion, processing, or deposition of reducible fibrillin-1 into the ECM.

PMID 8504310 1993 A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.

PMID 7896820 1995 A mutation causing an Asn-2144 --> Ser amino acid change in one of the potential calcium binding residues has been described in a patient with the Marfan syndrome.

PMID 20564469 2010 Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

PMID 10229672 1999 Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling.

PMID 9338581 1997 Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.

PMID 7911051 1994 Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.

PMID 7762551 1995 A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.

PMID 952872 1976 Synergistic activation of adenylate cyclase by guanylyl imidophosphate and epinephrine.

PMID 19802897 2010 Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.

PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

PMID 8136837 1994 Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.

PMID 27893734 2017 An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death.

PMID 27175573 2016 Using targeted semiconductor sequencing, two pathogenic mutations in four MFS patients of the two pedigrees were identified, including a novel frameshift insertion, p.G2120fsX2160, and a reported nonsense mutation, p.Arg529X (rs137854476), in the FBN1 gene.

PMID 9837823 1998 Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

PMID 21784848 2011 Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.

PMID 10766875 2000 Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome.

PMID 17324963 2007 Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.

PMID 9399842 1998 Marfan Database (third edition): new mutations and new routines for the software.

PMID 30675029 2019 Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

PMID 18079676 2007 A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

PMID 12446365 2002 Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.

PMID 2005308 1991 The funding crisis in biomedical research, Part I--Addressing the issue.

PMID 26272055 2015 Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

PMID 19002209 2009 Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

PMID 11780406 2001 Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome.

PMID 28941062 2017 A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.

PMID 24199744 2014 Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.

PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

PMID 26621581 2016 Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

PMID 19659760 2009 Neuromuscular features in Marfan syndrome.

PMID 25907466 2015 Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

PMID 15371449 2004 Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1.

PMID 11251996 2001 Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.

PMID 16596670 2006 FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

PMID 8884270 1996 A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.

PMID 18615205 2008 Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

PMID 16476890 2006 Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.

PMID 28855619 2017 Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

PMID 25966184 2015 A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.

PMID 21932315 2011 Ectopia lentis as the presenting and primary feature in Marfan syndrome.

PMID 22219643 2011 Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

PMID 27724990 2016 Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

PMID 31730815 2020 Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

PMID 19161152 2009 Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.

PMID 19293848 2009 Photonic logic by linear unidirectional interference.

PMID 22539340 2012 LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

PMID 21135753 2011 Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.

PMID 25900864 2015 Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.

PMID 9101298 1997 Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.

PMID 18087243 2007 Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.

PMID 16342915 2005 Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.

PMID 7977366 1994 A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

PMID 27884935 2017 Diagnostic value of exome and whole genome sequencing in craniosynostosis.

PMID 17680538 2007 Intron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.

PMID 22950452 2013 Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).

PMID 25053872 2014 Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.

PMID 25944730 2015 Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

PMID 16765689 2006 Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.

PMID 12068374 2002 Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

PMID 10721679 2000 Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.

PMID 11391655 2001 FBN1 exon 2 splicing error in a patient with Marfan syndrome.

PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

PMID 11875032 2002 Accounting for human polymorphisms predicted to affect protein function.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10364683 1999 A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.

PMID 11453977 2001 Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

PMID 17027361 2006 Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification.

PMID 17850668 2007 A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

PMID 8863159 1996 Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.

PMID 14586646 2004 Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.

PMID 12511552 2003 Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.

PMID 7778680 1995 Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.

PMID 9452033 1998 Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes.

PMID 15983637 2011 Osteoporosis in adult with Marfan syndrome: casuality or causality?

PMID 22736615 2012 A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.

PMID 10874320 2000 Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.

PMID 23505274 2013 Marfan syndrome presenting with headache and coincidental ophthalmic artery aneurysm.

PMID 9016526 1997 Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

PMID 20699357 2010 Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta.

PMID 11748851 2001 In this paper we analysed 10 British patients affected by MFS and we were able to characterise five novel missense mutations (C474W, C1402Y, G1987R, C2153Y, G2536R), one novel frameshift mutation (7926delC), one already described mutation (P1424A) and one FBN1 variant (P1148A) classified as a polymorphism in the Asian population.

PMID 11524736 2001 In this paper we analysed 10 British patients affected by MFS and we were able to characterise five novel missense mutations (C474W, C1402Y, G1987R, C2153Y, G2536R), one novel frameshift mutation (7926delC), one already described mutation (P1424A) and one FBN1 variant (P1148A) classified as a polymorphism in the Asian population.

PMID 1631074 1992 Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

PMID 24613577 2014 Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

PMID 24833718 2014 Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

PMID 27146836 2016 Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

PMID 26333736 2015 Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

PMID 25644172 2015 Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

PMID 17418587 2007 Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

PMID 24941995 2014 New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

PMID 17503327 2007 Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.

PMID 21883168 2012 Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.

PMID 15733436 2004 [Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].

PMID 22262941 2012 A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.

PMID 15821637 2005 Diagnostic power of aortic elastic properties in young patients with Marfan syndrome.

PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

PMID 20886638 2010 The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

PMID 12700307 2003 Muscle fibrillin deficiency in Marfan's syndrome myopathy.

PMID 11933199 2002 Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.

PMID 28098115 2019 A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.

PMID 22913777 2012 A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

rs113001196 in FBN1 gene and Multiple congenital anomalies PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 24635535 2015 The revised ghent nosology; reclassifying isolated ectopia lentis.

PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.

PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

PMID 21594992 2011 Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.

PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.

PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 14598350 2003 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

rs869025411 in FBN1 gene and Muscle hypotonia PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

PMID 21594992 2011 Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.

PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.

PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

PMID 24635535 2015 The revised ghent nosology; reclassifying isolated ectopia lentis.

PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.

PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 14598350 2003 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

rs1566903931 in FBN1 gene and OVERLAP CONNECTIVE TISSUE DISEASE PMID 16222657 2005 Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

rs113001196 in FBN1 gene and Overgrowth PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

PMID 24635535 2015 The revised ghent nosology; reclassifying isolated ectopia lentis.

PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

PMID 21594992 2011 Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.

PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.

PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.

PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.

PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 14598350 2003 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

rs1018148 in FBN1 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 29912962 2018 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

rs545317462 in FBN1 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs727503056 in FBN1 gene and Weill-Marchesani syndrome PMID 12068374 2002 Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

PMID 12525539 2003 In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.