Literature DB >> 1870097

The Holt-Oram syndrome.

J A Hurst1, C M Hall, M Baraitser.   

Abstract

Mesh：

Year:  1991        PMID： 1870097      PMCID： PMC1016907          DOI： 10.1136/jmg.28.6.406

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


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  10 in total

1.  Familial heart disease with skeletal malformations.

Authors:  M HOLT; S ORAM
Journal:  Br Heart J       Date:  1960-04

2.  A large deletion of the long arm of chromosome No. 4 in a child with limb abnormalities.

Authors:  C H Ockey; G V Feldman; M E Macaulay; M J Delaney
Journal:  Arch Dis Child       Date:  1967-08       Impact factor: 3.791

3.  Skeletal manifestations of the Holt-Oram syndrome.

Authors:  A K Poznanski; J C Gall; A M Stern
Journal:  Radiology       Date:  1970-01       Impact factor: 11.105

4.  Holt-Oram syndrome associated with ectromelia and chromosomal aberrations.

Authors:  M Rybak; K Kozlowski; A Kleczkowska; J Lewandowska; J Sokolowski; E Soltysik-Wilk
Journal:  Am J Dis Child       Date:  1971-06

5.  Prenatal ultrasound diagnosis of the Holt-Oram syndrome.

Authors:  J T Brons; H P van Geijn; J W Wladimiroff; J J van der Harten; M L Kwee; M Sobotka-Plojhar; N F Arts
Journal:  Prenat Diagn       Date:  1988-03       Impact factor: 3.050

6.  Holt Oram syndrome mistaken for thalidomide embryopathy--embryological considerations.

Authors:  N Van Regemorter; D Haumont; C Kirkpatrick; P Viseur; P Jeanty; J Dodion; J Milaire; M Rooze; F Rodesch
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

7.  Holt-Oram syndrome: penetrance of the gene and lack of maternal effect.

Authors:  I Gladstone; V P Sybert
Journal:  Clin Genet       Date:  1982-02       Impact factor: 4.438

8.  Holt-Oram syndrome: clinical and genetic study of a large family.

Authors:  J C Gall; A M Stern; M M Cohen; M S Adams; R T Davidson
Journal:  Am J Hum Genet       Date:  1966-03       Impact factor: 11.025

9.  Holt-Oram syndrome.

Authors:  A T Smith; G H Sack; G J Taylor
Journal:  J Pediatr       Date:  1979-10       Impact factor: 4.406

10.  Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin).

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; F Dore; J Seger; M D Dautzenberg; M Arthuis; C Jeanson
Journal:  Ann Genet       Date:  1984
  10 in total
  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

Review 2.  The genetic contribution to the phenotype.

Authors:  U Wolf
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

3.  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

4.  A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

Authors:  J A Terrett; R Newbury-Ecob; N M Smith; Q Y Li; C Garrett; P Cox; D Bonnet; S Lyonnet; A Munnich; A J Buckler; J D Brook
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

5.  TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Authors:  Chirag Patel; Lee Silcock; Dominic McMullan; Louise Brueton; Helen Cox
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246

6.  Atypical carpal tunnel syndrome in a holt oram patient: a case report and literature review.

Authors:  James Mace; Srikanth Reddy; Randeep Mohil
Journal:  Open Orthop J       Date:  2014-12-29

7.  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

8.  A transcriptomics analysis of the Tbx5 paralogues in zebrafish.

Authors:  Erin A T Boyle Anderson; Robert K Ho
Journal:  PLoS One       Date:  2018-12-10       Impact factor: 3.240

9.  A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome.

Authors:  Lady J Ríos-Serna; Lorena Díaz-Ordoñez; Estephania Candelo; Harry Pachajoa
Journal:  Appl Clin Genet       Date:  2018-11-23

10.  Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease.

Authors:  Samantha Barratt Ross; Richard D Bagnall; Laura Yeates; Raymond W Sy; Christopher Semsarian
Journal:  HeartRhythm Case Rep       Date:  2018-02-13
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