Condition: Apert syndrome


rs1057519036 in FGFR2 gene and Apert syndrome PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 10394936 1999 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

PMID 9521581 1998 The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

PMID 24656465 2014 Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 7581378 1995 Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 29037998 2018 Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.

PMID 27683237 2017 Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.

PMID 7874170 1994 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

PMID 23348274 2013 FGFR1 and FGFR2 mutations in Pfeiffer syndrome.

PMID 9002682 1997 The observation that the Ser252Phe mutation causes Apert syndrome, whereas the other single or double substitutions are associated with milder or normal phenotypes, highlights the exquisitely specific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrome.

PMID 7719344 1995 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

PMID 15190072 2004 Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.

PMID 7668257 1995 Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

PMID 9452027 1998 Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.

PMID 11390973 2001 Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.

PMID 10406670 1999 Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

PMID 8946174 1996 Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

PMID 18391498 2008 Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

PMID 16418739 2006 Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

PMID 9002682 1997 In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more than 160 unrelated individuals.

PMID 7719344 1995 We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.

PMID 11390973 2001 Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS.

PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

PMID 14499350 2003 Here we show that mutant mice carrying the activation mutation, Ser252Trp [corrected] which corresponds to Ser252Trp in human FGFR2, have malformations mimicking the skull abnormalities found in AS patients.

PMID 15975938 2005 Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.

PMID 11390973 2001 Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS.

PMID 7719344 1995 We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.

PMID 24489893 2014 We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced trabecular bone volume, reduced bone mineral density, and shortened growth plates in the long bones.

PMID 11121055 2000 Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

PMID 23546041 2013 We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively.