TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome (Q24336755)

embryonic forelimb morphogenesis

GOA release 2020-03-11

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GOA release 2020-03-11

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Deborah A McDermott

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Michael C Bressan

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Jie He

3

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Joseph S Lee

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Salim Aftimos

5

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Martina Brueckner

6

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Fred Gilbert

7

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Gail E Graham

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Mark C Hannibal

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Jeffrey W Innis

10

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Mary Ella Pierpont

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Annick Raas-Rothschild

12

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Alan L Shanske

13

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Wendy E Smith

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Robert H Spencer

15

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Martin G St John-Sutton

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Lionel van Maldergem

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Darrel J Waggoner

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Matthew Weber

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Craig T Basson

Familial heart disease with skeletal malformations

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language of work or name

English

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publication date

November 2005

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published in

Pediatric Research

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volume

58

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issue

5

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page(s)

981-6

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cites work

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Holt-Oram syndrome: a clinical genetic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Mutations in the human TBX4 gene cause small patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Role of TBX1 in human del22q11.2 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

The mutation spectrum in Holt-Oram syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Detection of a large TBX5 deletion in a family with Holt-Oram syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Genetic heterogeneity of heart-hand syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Identification and localization of TBX5 transcription factor during human cardiac morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

Holt-Oram syndrome: is there a "face"?

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

7 January 2021

Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

7 January 2021

Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

7 January 2021

The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

7 January 2021

Holt-Oram syndrome vs heart-hand syndrome

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

7 January 2021

Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000182593.95441.64

7 January 2021