Literature DB >> 15578585

The mildest form of campomelic dysplasia.

Sheila Unger.   

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Year:  2005        PMID: 15578585     DOI: 10.1002/ajmg.a.30451

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  4 in total

1.  Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Authors:  Katherine L Hill-Harfe; Lee Kaplan; Heather J Stalker; Roberto T Zori; Ramona Pop; Gerd Scherer; Margaret R Wallace
Journal:  Am J Hum Genet       Date:  2005-04       Impact factor: 11.025

2.  Cervico-thoracic kyphosis in a girl with Pierre Robin sequence.

Authors:  Ali Al Kaissi; Rudolf Ganger; Klaus Klaushofer; Franz Grill
Journal:  Ger Med Sci       Date:  2011-03-14

3.  Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

Authors:  Linda P Jakobsen; Reinhard Ullmann; Steen B Christensen; Karl Erik Jensen; Kirsten Mølsted; Karen F Henriksen; Claus Hansen; Mary A Knudsen; Lars A Larsen; Niels Tommerup; Zeynep Tümer
Journal:  J Med Genet       Date:  2007-06       Impact factor: 6.318

4.  Spine malformation complex in 3 diverse syndromic entities: Case reports.

Authors:  Ali Al Kaissi; Andreas van Egmond-Fröhlich; Sergey Ryabykh; Polina Ochirov; Vladimir Kenis; Jochen G Hofstaetter; Franz Grill; Rudolf Ganger; Susanne Gerit Kircher
Journal:  Medicine (Baltimore)       Date:  2016-12       Impact factor: 1.889

  4 in total

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