Literature DB >> 1996196

[Holt-Oram syndrome].

C Elek1, M Vitéz, E Czeizel.   

Abstract

Authors report on the genetic epidemiologic investigation of the upper limb--cardiovascular (Holt-Oram) syndrome. The source of cases was the material of the Hungarian Congenital Malformation Registry. Birth prevalence was 0.95/100,000 total births. 85% of all cases proved to be consequences of new mutations, hence the mutation rate was 4.07 x 10(-6) +/- 3.12 x 10(-6).

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Year:  1991        PMID： 1996196

Source DB:  PubMed          Journal:  Orv Hetil        ISSN： 0030-6002            Impact factor:   0.540


  11 in total

1.  Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Authors:  Clémence Vanlerberghe; Anne-Sophie Jourdain; Jamal Ghoumid; Frédéric Frenois; Aurélie Mezel; Guy Vaksmann; Bruno Lenne; Bruno Delobel; Nicole Porchet; Valérie Cormier-Daire; Thomas Smol; Fabienne Escande; Sylvie Manouvrier-Hanu; Florence Petit
Journal:  Eur J Hum Genet       Date:  2018-12-14       Impact factor: 4.246

2.  Connexin 40, a target of transcription factor Tbx5, patterns wrist, digits, and sternum.

Authors:  Anne Pizard; Patrick G Burgon; David L Paul; Benoit G Bruneau; Christine E Seidman; J G Seidman
Journal:  Mol Cell Biol       Date:  2005-06       Impact factor: 4.272

3.  A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report.

Authors:  Reza Ebrahimzadeh-Vesal; Seyed Kianush Hosseini; Fereshteh Rezakhanlu; Pupak Derakhshandeh-Peykar
Journal:  Rep Biochem Mol Biol       Date:  2013-10

4.  A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene.

Authors:  K Muru; I Kalev; R Teek; M Sõnajalg; K Kuuse; T Reimand; K Ounap
Journal:  Mol Syndromol       Date:  2011-08-03

5.  Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

Authors:  C T Basson; T Huang; R C Lin; D R Bachinsky; S Weremowicz; A Vaglio; R Bruzzone; R Quadrelli; M Lerone; G Romeo; M Silengo; A Pereira; J Krieger; S F Mesquita; M Kamisago; C C Morton; M E Pierpont; C W Müller; J G Seidman; C E Seidman
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-16       Impact factor: 11.205

Review 6.  TBX5: A Key Regulator of Heart Development.

Authors:  J D Steimle; I P Moskowitz
Journal:  Curr Top Dev Biol       Date:  2016-09-28       Impact factor: 4.897

Review 7.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822

Review 8.  Electrical disorders in atrial septal defect: genetics and heritability.

Authors:  Hisaaki Aoki; Minoru Horie
Journal:  J Thorac Dis       Date:  2018-09       Impact factor: 2.895

9.  Holt Oram syndrome: a registry-based study in Europe.

Authors:  Ingeborg Barisic; Ljubica Boban; Ruth Greenlees; Ester Garne; Diana Wellesley; Elisa Calzolari; Marie-Claude Addor; Larraitz Arriola; Jorieke Eh Bergman; Paula Braz; Judith Ls Budd; Miriam Gatt; Martin Haeusler; Babak Khoshnood; Kari Klungsoyr; Bob McDonnell; Vera Nelen; Anna Pierini; Annette Queisser-Wahrendorf; Judith Rankin; Anke Rissmann; Catherine Rounding; David Tucker; Christine Verellen-Dumoulin; Helen Dolk
Journal:  Orphanet J Rare Dis       Date:  2014-10-25       Impact factor: 4.123

10.  Clinical and epidemiological features of Heart-Hand Syndrome: a hospital-based study in China.

Authors:  Yaobin Yin; Jianguang Ji; Yan Borné; Yanqing Wang; Junhui Zhao; Shanlin Chen; Wen Tian
Journal:  Sci Rep       Date:  2018-05-31       Impact factor: 4.379
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