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20 in total

1. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Authors: J Kohlhase; L Schubert; M Liebers; A Rauch; K Becker; S N Mohammed; R Newbury-Ecob; W Reardon
Journal: J Med Genet Date: 2003-07 Impact factor: 6.318

2. Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.

Authors: Chun Fan; Mugen Liu; Qing Wang
Journal: J Biol Chem Date: 2002-12-23 Impact factor: 5.157

3. Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.

Authors: W Heinritz; A Moschik; A Kujat; S Spranger; H Heilbronner; S Demuth; A Bier; M Tihanyi; S Mundlos; C Gruenauer-Kloevekorn; U G Froster
Journal: Heart Date: 2005-03 Impact factor: 5.994

4. A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome.

Authors: Masao Murakami; Masayo Nakagawa; Eric N Olson; Osamu Nakagawa
Journal: Proc Natl Acad Sci U S A Date: 2005-12-06 Impact factor: 11.205

5. An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease.

Authors: Alexandra MacColl Garfinkel; Mustafa K Khokha
Journal: Curr Pathobiol Rep Date: 2017-05-06

6. 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

The mutation spectrum in Holt-Oram syndrome.

1. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

2. Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.

3. Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.

4. A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome.

5. An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease.

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

Review 7. Genetic counseling for congenital heart disease: new approaches for a new decade.

Review 8. Xenopus: An emerging model for studying congenital heart disease.

9. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

10. A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome.