Literature DB >> 16892408

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.

Wiktor Borozdin1, Ana M Bravo-Ferrer Acosta, Eva Seemanova, Michael Leipoldt, Michael J Bamshad, Sheila Unger, Jürgen Kohlhase.   

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Year:  2006        PMID： 16892408     DOI： 10.1002/ajmg.a.31340

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


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  8 in total

1.  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

2.  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

3.  Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes.

Authors:  Katarzyna Iwanicka-Pronicka; Magdalena Socha; Maria Jędrzejowska; Małgorzata Krajewska-Walasek; Aleksander Jamsheer
Journal:  Springerplus       Date:  2016-09-21

4.  Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.

Authors:  Anna Zlotina; Artem Kiselev; Alexey Sergushichev; Elena Parmon; Anna Kostareva
Journal:  Front Genet       Date:  2018-06-15       Impact factor: 4.599

5.  Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach.

Authors:  A M U B Mahfuz; Md Arif Khan; Promita Deb; Sharmin Jahan Ansary; Rownak Jahan
Journal:  Biochem Biophys Rep       Date:  2021-12-02

Review 6.  Molecular genetics of congenital atrial septal defects.

Authors:  Maximilian G Posch; Andreas Perrot; Felix Berger; Cemil Ozcelik
Journal:  Clin Res Cardiol       Date:  2009-12-11       Impact factor: 5.460

7.  Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

Authors:  Johann Böhm; Wolfram Heinritz; Alexander Craig; Mihailo Vujic; Britt-Marie Ekman-Joelsson; Jürgen Kohlhase; Ursula Froster
Journal:  BMC Med Genet       Date:  2008-10-01       Impact factor: 2.103

8.  A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.

Authors:  Justyna A Karolak; Tomasz Gambin; Engela M Honey; Tomas Slavik; Edwina Popek; Paweł Stankiewicz
Journal:  BMC Med Genomics       Date:  2020-03-06       Impact factor: 3.063
  8 in total

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