(Q51905604)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17377518%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation (English)

1 reference

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27 December 2019

9

1 reference

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27 December 2019

D. Heine-Suñer

14

1 reference

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27 December 2019

author name string

Laura Torres-Juan

1

1 reference

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27 December 2019

Jordi Rosell

2

1 reference

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27 December 2019

Montse Morla

3

1 reference

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27 December 2019

Catalina Vidal-Pou

4

1 reference

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27 December 2019

Fernando García-Algas

5

1 reference

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27 December 2019

Maria-Angeles de la Fuente

6

1 reference

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27 December 2019

Miguel Juan

7

1 reference

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27 December 2019

Albert Tubau

8

1 reference

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27 December 2019

Marta Bernues

10

1 reference

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27 December 2019

Angeles Perez-Granero

11

1 reference

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27 December 2019

Nancy Govea

12

1 reference

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27 December 2019

Xavier Busquets

13

1 reference

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27 December 2019

publication date

21 March 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17377518%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

27 December 2019

published in

1 reference

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27 December 2019

volume

15

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27 December 2019

issue

6

1 reference

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27 December 2019

page(s)

658-663

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201819

27 December 2019

exact match

0 references

cites work

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

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A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

21 January 2018

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22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

21 January 2018

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Microduplication and triplication of 22q11.2: a highly variable syndrome

21 January 2018

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DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

21 January 2018

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Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

21 January 2018

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

21 January 2018

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Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

21 January 2018

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Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201819

Role of TBX1 in human del22q11.2 syndrome

21 January 2018

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Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

21 January 2018

1 reference

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Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients

21 January 2018

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

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Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation

21 January 2018

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The implications of structured 5' untranslated regions on translation and disease

21 January 2018

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Mfold web server for nucleic acid folding and hybridization prediction

21 January 2018

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Circumstances and mechanisms of inhibition of translation by secondary structure in eucaryotic mRNAs

21 January 2018

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A common molecular basis for rearrangement disorders on chromosome 22q11

21 January 2018

1 reference

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Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome

21 January 2018

1 reference

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Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

21 January 2018

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The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome

21 January 2018

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VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

21 January 2018

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Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.

21 January 2018

1 reference

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TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid

21 January 2018

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Alcohol, vitamin A, and cancer

21 January 2018

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DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

21 January 2018

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

21 January 2018

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7 January 2021

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

1 reference

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7 January 2021

Duplication of the 22q11.2 region associated with congenital cardiac disease

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7 January 2021

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

1 reference

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7 January 2021