Condition: Familial thoracic aortic aneurysm and aortic dissection


rs397516685 in ACTA2;ACTA2-AS1;STAMBPL1 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 19409525 2009 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

PMID 19639654 2009 Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

rs112602953 in ACTA2;STAMBPL1 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 19409525 2009 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

PMID 17994018 2007 Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

PMID 23099432 2012 TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction.

PMID 21248741 2011 Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

PMID 21733706 2011 Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene.

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.

rs1566944839 in FBN1;LOC105370809 gene and Familial thoracic aortic aneurysm and aortic dissection 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 4750422 1973 Epidermal growth factor. Location of disulfide bonds.

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

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

PMID 16677079 2006 Fibrillin-1 misfolding and disease.

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

rs886040966 in LOX gene and Familial thoracic aortic aneurysm and aortic dissection 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 26838787 2016 LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

rs730880147 in MYH11 gene and Familial thoracic aortic aneurysm and aortic dissection 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.

rs1566999423 in SMAD3 gene and Familial thoracic aortic aneurysm and aortic dissection 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 21217753 2011 Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

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 24804794 2014 Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.

PMID 21778426 2011 Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.

PMID 11779503 2001 Crystal structure of a phosphorylated Smad2. Recognition of phosphoserine by the MH2 domain and insights on Smad function in TGF-beta signaling.

PMID 10092624 1999 Cooperative binding of Smad proteins to two adjacent DNA elements in the plasminogen activator inhibitor-1 promoter mediates transforming growth factor beta-induced smad-dependent transcriptional activation.

PMID 20101697 2010 Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

PMID 26854089 2016 Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

PMID 15235019 2004 The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

PMID 26133393 2016 Aortic dilation, genetic testing, and associated diagnoses.

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

rs876657852 in SRFBP1;LOX gene and Familial thoracic aortic aneurysm and aortic dissection PMID 27432961 2016 Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

PMID 26838787 2016 LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

rs387906592 in STAMBPL1;ACTA2 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 19409525 2009 Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

PMID 22752479 2013 Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.

PMID 22302747 2012 R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.

PMID 20734336 2010 De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

PMID 20970362 2011 Analysis of ACTA2 in European Moyamoya disease patients.

rs111426349 in TGFBR1 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 25110237 2014 Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation.

PMID 19542084 2009 Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

PMID 23884466 2013 TGFβ receptor mutations impose a strong predisposition for human allergic disease.

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

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 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

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

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

PMID 18781618 2008 Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

PMID 25521989 2014 Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome.

PMID 16791849 2006 Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

PMID 22414221 2012 TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.

PMID 21358634 2011 Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 21267002 2011 Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 18455604 2008 Aortic dissection in a young man with Loeys-Dietz syndrome.

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.

rs104893809 in TGFBR2 gene and Familial thoracic aortic aneurysm and aortic dissection PMID 18781618 2008 Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

PMID 20829218 2011 Epigenetic control of vascular smooth muscle cells in Marfan and non-Marfan thoracic aortic aneurysms.

PMID 15235604 2004 Heterozygous TGFBR2 mutations in Marfan syndrome.

PMID 18827873 2008 The many faces of aggressive aortic pathology: Loeys-Dietz syndrome.

PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 21098638 2010 Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.

PMID 21267002 2011 Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

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 19542084 2009 Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

PMID 27508510 2016 Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ.

PMID 16251899 2006 Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

PMID 16027248 2005 Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

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 16799921 2006 TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

PMID 19996017 2009 Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

PMID 20956634 2011 Multiple facial milia in patients with Loeys-Dietz syndrome.

PMID 22488992 2012 Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation.

PMID 25116393 2014 Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 17935258 2008 A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.

PMID 17652900 2007 Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes.

PMID 18084123 2007 A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 20838339 2010 The Loeys-Dietz syndrome: an update for the clinician.

PMID 28225382 2017 Extreme phenotypes of Loeys Dietz syndrome.

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 27879313 2016 International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

PMID 23884466 2013 TGFβ receptor mutations impose a strong predisposition for human allergic disease.

PMID 24792536 2014 Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome.

PMID 22259224 2012 Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.

PMID 22095581 2012 Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.

PMID 19006214 2008 Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.