TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome (Q28512803)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11239417%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome (English)

2 references

25 January 2017

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5 November 2019

1 reference

GOA release 2020-03-11

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1

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5 November 2019

Hubert Schorle

18

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5 November 2019

Peter J Scambler

20

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5 November 2019

Bernice E. Morrow

23

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5 November 2019

author name string

B Funke

2

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5 November 2019

J A Epstein

3

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5 November 2019

J Heyer

4

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5 November 2019

A Puech

5

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5 November 2019

M M Lu

6

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5 November 2019

R J Xavier

7

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5 November 2019

M B Demay

8

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5 November 2019

R G Russell

9

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5 November 2019

S Factor

10

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5 November 2019

K Tokooya

11

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5 November 2019

B S Jore

12

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5 November 2019

M Lopez

13

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5 November 2019

R K Pandita

14

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5 November 2019

M Lia

15

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5 November 2019

D Carrion

16

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5 November 2019

H Xu

17

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5 November 2019

J B Kobler

19

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5 November 2019

A Wynshaw-Boris

21

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5 November 2019

A I Skoultchi

22

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5 November 2019

R Kucherlapati

24

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5 November 2019

language of work or name

English

0 references

publication date

1 February 2001

1 reference

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5 November 2019

2 references

25 January 2017

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5 November 2019

volume

104

2 references

25 January 2017

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5 November 2019

issue

4

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25 January 2017

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5 November 2019

page(s)

619-629

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

5 November 2019

cites work

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

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7 January 2021

The septin CDCrel-1 binds syntaxin and inhibits exocytosis

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7 January 2021

Dependence of thymus development on derivatives of the neural crest

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7 January 2021

Effect of neural crest ablation on development of the heart and arch arteries in the chick

1 reference

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7 January 2021

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

1 reference

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7 January 2021

Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

1 reference

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7 January 2021

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

1 reference

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7 January 2021

The spectrum of the DiGeorge syndrome

1 reference

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7 January 2021

Role of cardiac neural crest cells in cardiovascular development

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7 January 2021

A new concept of the cellular basis of immunity

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7 January 2021

The DNA sequence of human chromosome 22

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7 January 2021

Transcriptional regulation of cardiac development: implications for congenital heart disease and DiGeorge syndrome

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7 January 2021

Velo-cardio-facial syndrome: a review of 120 patients.

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7 January 2021

Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.

1 reference

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7 January 2021

Role of neural crest in congenital heart disease

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7 January 2021

Neural crest cells contribute to normal aorticopulmonary septation

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7 January 2021

Zp3-cre, a transgenic mouse line for the activation or inactivation of loxP-flanked target genes specifically in the female germ line

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Congenital heart disease in mice deficient for the DiGeorge syndrome region

1 reference

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7 January 2021

Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome

1 reference

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7 January 2021

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7 January 2021

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region

1 reference

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7 January 2021

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

1 reference

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7 January 2021

Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature.

1 reference

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7 January 2021

Molecular insights into cardiac development

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7 January 2021

Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

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7 January 2021

Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome

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7 January 2021

10.1016/S0092-8674(01)00247-1

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

1339431

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11239417%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1339431

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1339431