相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Genotype and Cardiovascular Phenotype Correlations with TBX1 in 1,022 Velo-Cardio-Facial/DiGeorge/22q11.2 Deletion Syndrome Patients
Tingwei Guo et al.
HUMAN MUTATION (2011)
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants
Helen R. Griffin et al.
HEART (2010)
The genetics of isolated orofacial clefts: from genotypes to subphenotypes
A. Jugessur et al.
ORAL DISEASES (2009)
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes
Lisa J. Kobrynski et al.
LANCET (2007)
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions
Christiane Zweier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation
Laura Torres-Juan et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans:: Implications for 22q11 deletion syndrome
Richard Paylor et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients -: art. no. e40
A Rauch et al.
JOURNAL OF MEDICAL GENETICS (2004)
Role of TBX1 in human del22q11.2 syndrome
H Yagi et al.
LANCET (2003)
DiGeorge subtypes of nonsyndromic conotruncal defects:: evidence against a major role of TBX1 Gene
E Conti et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Chromosomal microdeletions:: Dissecting del22q11 syndrome
EA Lindsay
NATURE REVIEWS GENETICS (2001)
TBX1 is responsible for cardiovascular defects in Velo-Cardio-Facial/DiGeorge syndrome
S Merscher et al.
CELL (2001)
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