Condition: JACKSON-WEISS SYNDROME


rs121909627 in FGFR1 gene and JACKSON-WEISS SYNDROME PMID 10861678 2000 Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

rs121918487 in FGFR2 gene and JACKSON-WEISS SYNDROME PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 20133659 2010 Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.

PMID 8650126 1996 First-trimester prenatal diagnosis of Crouzon syndrome.

PMID 15316116 2004 A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.

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

PMID 8755573 1996 Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.

PMID 22558232 2012 Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation.

PMID 9385368 1997 Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

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

PMID 8528214 1995 In addition, the Jackson-Weiss syndrome mutation, C342R, in exon IIIc was observed previously in other craniosynostotic syndromes, Crouzon and Pfeiffer.

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

PMID 8644708 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PMID 8528214 1995 Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R).

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PMID 7989400 1994 Steroids in multiple sclerosis.

PMID 27028366 2016 Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

PMID 12884424 2003 Screening of patients with craniosynostosis: molecular strategy.

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 17693524 2007 Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

PMID 8528214 1995 Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

PMID 23348274 2013 FGFR1 and FGFR2 mutations in Pfeiffer syndrome.

PMID 25361936 2014 Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.

PMID 10874645 1999 Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis.