Literature DB >> 12362036

Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.

S Schindler, M Friedrich, H Wagener, B Lorenz, M N Preising.   

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Year:  2002        PMID： 12362036      PMCID： PMC1734995          DOI： 10.1136/jmg.39.10.764

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


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  4 in total

1.  Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Authors:  Xiaoqian Ye; Audrey Guilmatre; Boris Reva; Inga Peter; Yann Heuzé; Joan T Richtsmeier; Deborah J Fox; Rhinda J Goedken; Ethylin Wang Jabs; Paul A Romitti
Journal:  Plast Reconstr Surg       Date:  2016-03       Impact factor: 4.730

2.  A Korean family with the Muenke syndrome.

Authors:  Jae Eun Yu; Dong Ha Park; Soo Han Yoon
Journal:  J Korean Med Sci       Date:  2010-06-17       Impact factor: 2.153

Review 3.  The Fibroblast Growth Factor signaling pathway.

Authors:  David M Ornitz; Nobuyuki Itoh
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2015-03-13       Impact factor: 5.814

4.  Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

Authors:  Lyn S Chitty; Sarah Mason; Angela N Barrett; Fiona McKay; Nicholas Lench; Rebecca Daley; Lucy A Jenkins
Journal:  Prenat Diagn       Date:  2015-05-26       Impact factor: 3.050
  4 in total

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