Literature DB >> 10051172

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.

A K Gedeon, C Oley, J Nelson, G Turner, J C Mulley.   

Abstract

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Year:  1999        PMID： 10051172

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


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  4 in total

1.  Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

Authors:  Takeshi Morisawa; Mariko Yagi; Agus Surono; Naoki Yokoyama; Makoto Ohmori; Hiroto Terashi; Masafumi Matsuo
Journal:  Hum Genet       Date:  2004-06-02       Impact factor: 4.132

2.  Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Authors:  C Thauvin-Robinet; M Cossée; V Cormier-Daire; L Van Maldergem; A Toutain; Y Alembik; E Bieth; V Layet; P Parent; A David; A Goldenberg; G Mortier; D Héron; P Sagot; A M Bouvier; F Huet; V Cusin; A Donzel; D Devys; J R Teyssier; L Faivre
Journal:  J Med Genet       Date:  2006-01       Impact factor: 6.318

3.  Identification of the gene for oral-facial-digital type I syndrome.

Authors:  M I Ferrante; G Giorgio; S A Feather; A Bulfone; V Wright; M Ghiani; A Selicorni; L Gammaro; F Scolari; A S Woolf; O Sylvie; L Bernard; S Malcolm; R Winter; A Ballabio; B Franco
Journal:  Am J Hum Genet       Date:  2001-02-13       Impact factor: 11.025

4.  Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II).

Authors:  Ali Al Kaissi; Renata Pospischill; Franz Grill; Rudolf Ganger
Journal:  J Clin Med Res       Date:  2015-10-23
  4 in total

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