Literature DB >> 9545103

FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome.

A Krepelová, A Baxová, P Calda, R Plavka, J Kapras.   

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Year:  1998        PMID： 9545103

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  5 in total

Review 1.  Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails.

Authors:  C Corbett Wilkinson; David K Manchester; Robert F Keating; Lawrence L Ketch; Ken R Winston
Journal:  Childs Nerv Syst       Date:  2012-06-04       Impact factor: 1.475

2.  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

3.  Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

Authors:  Anne Slavotinek; Howard Crawford; Mahin Golabi; Cathy Tao; Hazel Perry; Sneha Oberoi; Karin Vargervik; Michael Friez
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

4.  The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.

Authors:  So-Hee Eun; Ki Ssu Ha; Bo-Kyung Je; Eung Seok Lee; Byung Min Choi; Jung Hwa Lee; Baik-Lin Eun; Kee Hwan Yoo
Journal:  J Korean Med Sci       Date:  2007-04       Impact factor: 2.153

5.  Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare-Stevenson Syndrome.

Authors:  Leonardo C Ferreira; José H Dantas Junior
Journal:  Front Genet       Date:  2020-02-25       Impact factor: 4.599
  5 in total

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