Literature DB >> 10777366

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

G Mortier, L Nuytinck, M Craen, J P Renard, J G Leroy, A de Paepe.   

Abstract

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Year:  2000        PMID： 10777366      PMCID： PMC1734544          DOI： 10.1136/jmg.37.3.220

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  17 in total

Review 1.  Changes in clinical practice with the unravelling of diseases: connective-tissue disorders.

Authors:  J Spranger
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

2.  Disproportionate stature but normal height in hypochondroplasia.

Authors:  Felix G Riepe; Nils Krone; Wolfgang G Sippell
Journal:  Eur J Pediatr       Date:  2005-03-15       Impact factor: 3.183

3.  A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

Authors:  Huaibin Chen; Jinghong Ma; Wanqing Li; Anna V Eliseenkova; Chongfeng Xu; Thomas A Neubert; W Todd Miller; Moosa Mohammadi
Journal:  Mol Cell       Date:  2007-09-07       Impact factor: 17.970

4.  Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas.

Authors:  Vikki Rand; Jiaqi Huang; Tim Stockwell; Steve Ferriera; Oleksandr Buzko; Samuel Levy; Dana Busam; Kelvin Li; Jennifer B Edwards; Charles Eberhart; Kathleen M Murphy; Alexia Tsiamouri; Karen Beeson; Andrew J G Simpson; J Craig Venter; Gregory J Riggins; Robert L Strausberg
Journal:  Proc Natl Acad Sci U S A       Date:  2005-09-26       Impact factor: 11.205

5.  Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

Authors:  G A Bellus; E B Spector; P W Speiser; C A Weaver; A T Garber; C R Bryke; J Israel; S S Rosengren; M K Webster; D J Donoghue; C A Francomano
Journal:  Am J Hum Genet       Date:  2000-10-27       Impact factor: 11.025

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

Authors:  Shih-hsin Kan; Navaratnam Elanko; David Johnson; Laura Cornejo-Roldan; Jackie Cook; Elsa W Reich; Susan Tomkins; Alain Verloes; Stephen R F Twigg; Sahan Rannan-Eliya; Donna M McDonald-McGinn; Elaine H Zackai; Steven A Wall; Maximilian Muenke; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2002-01-04       Impact factor: 11.025

7.  Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.

Authors:  Rong Zhao; Yan Ruan; Xin Wang
Journal:  Int J Clin Exp Med       Date:  2015-10-15

8.  Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.

Authors:  Rosario Ramos Mejía; Miriam Aza-Carmona; Mariana Del Pino; Karen E Heath; Virginia Fano; Maria Gabriela Obregon
Journal:  J Pediatr Genet       Date:  2019-09-02

9.  Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

Authors:  Hüseyin Anıl Korkmaz; Filiz Hazan; Ceyhun Dizdarer; Ajlan Tükün
Journal:  J Clin Res Pediatr Endocrinol       Date:  2012-11-12

10.  Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K).

Authors:  Kyung Eui Park; Sung Ah Kim; Moon Joo Kang; Hee Sun Kim; Sung Im Cho; Kyoung Won Yoo; So Yeon Kim; Hye Jun Lee; Sun Kyung Oh; Moon-Woo Seong; Seung-Yup Ku; Jong Kwan Jun; Sung Sup Park; Young Min Choi; Shin Yong Moon
Journal:  Clin Exp Reprod Med       Date:  2013-03-31
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