Literature DB >> 20412079

Submicroscopic familial chromosomal translocation between 7q and 12p mimicking an autosomal dominant holoprosencephaly syndrome.

K Izumi, D Culler, Bd Solomon, M Muenke, As Parikh.   

Abstract

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Year:  2010        PMID： 20412079      PMCID： PMC4133699          DOI： 10.1111/j.1399-0004.2010.01437.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

1.  Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.

Authors:  E Roessler; D E Ward; K Gaudenz; E Belloni; S W Scherer; D Donnai; J Siegel-Bartelt; L C Tsui; M Muenke
Journal:  Hum Genet       Date:  1997-08       Impact factor: 4.132

2.  An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly.

Authors:  A O Martin; J C Perrin; W A Muir; E Ruch; I A Schafer
Journal:  Clin Genet       Date:  1977-08       Impact factor: 4.438

3.  A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.

Authors:  A J Ross; V Ruiz-Perez; Y Wang; D M Hagan; S Scherer; S A Lynch; S Lindsay; E Custard; E Belloni; D I Wilson; R Wadey; F Goodman; K H Orstavik; T Monclair; S Robson; W Reardon; J Burn; P Scambler; T Strachan
Journal:  Nat Genet       Date:  1998-12       Impact factor: 38.330

4.  The natural history of trisomy 12p.

Authors:  Reeval Segel; Inga Peter; Laurie A Demmer; Janet M Cowan; Jodi D Hoffman; Diana W Bianchi
Journal:  Am J Med Genet A       Date:  2006-04-01       Impact factor: 2.802

5.  Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

Authors:  E Belloni; M Muenke; E Roessler; G Traverso; J Siegel-Bartelt; A Frumkin; H F Mitchell; H Donis-Keller; C Helms; A V Hing; H H Heng; B Koop; D Martindale; J M Rommens; L C Tsui; S W Scherer
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

6.  Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Authors:  E Roessler; E Belloni; K Gaudenz; P Jay; P Berta; S W Scherer; L C Tsui; M Muenke
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330
  6 in total
  1 in total

1.  Prenatal diagnosis of Pallister-Killian syndrome and literature review.

Authors:  Xiaoqing Wu; Xiaorui Xie; Linjuan Su; Na Lin; Bin Liang; Nan Guo; Qingquan Chen; Liangpu Xu; Hailong Huang
Journal:  J Cell Mol Med       Date:  2021-08-18       Impact factor: 5.310
  1 in total

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