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。Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1
Jeroen Breckpot et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings
S. Yu et al.
CYTOGENETIC AND GENOME RESEARCH (2011)
Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
Donna M. McDonald-McGinn et al.
MEDICINE (2011)
22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review
L. Garavelli et al.
MOLECULAR SYNDROMOLOGY (2011)
Cardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome
Kazuo Momma
AMERICAN JOURNAL OF CARDIOLOGY (2010)
Unbalanced 3;22 Translocation With 22q11 and 3p Deletion Syndrome
Munis Dundar et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
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)
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
Ralf Rauch et al.
JOURNAL OF MEDICAL GENETICS (2010)
Paternal Balanced Reciprocal Translocation t(9;22)(q34.3;q11.2) Resulting in an Infant With Features of the 9q Subtelomere and the 22q11 Deletion Syndromes Due to 3:1 Meiotic Segregation and Tertiary Monosomy
Robin R. McGoey et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
Luis Fernandez et al.
BMC MEDICAL GENETICS (2009)
Microduplication 22q11.2: A new chromosomal syndrome
Marie-France Portnoi
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report
Caroline Mackie Ogilvie et al.
MOLECULAR CYTOGENETICS (2009)
An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior
Carla S. D'Angelo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (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)
Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: A Korean multicenter study
In-Sook Park et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2007)
Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development
Zhen Zhang et al.
DEVELOPMENT (2006)
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)
Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome
DL Guris et al.
DEVELOPMENTAL CELL (2006)
Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2
A Rauch et al.
JOURNAL OF MEDICAL GENETICS (2005)
Long-range control of gene expression: Emerging mechanisms and disruption in disease
DA Kleinjan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal -: art. no. e47
R Pop et al.
JOURNAL OF MEDICAL GENETICS (2004)
Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract
HS Xu et al.
DEVELOPMENT (2004)
Role of TBX1 in human del22q11.2 syndrome
H Yagi et al.
LANCET (2003)
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
LA Lettice et al.
HUMAN MOLECULAR GENETICS (2003)
A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
LD Botto et al.
PEDIATRICS (2003)
DiGeorge/velocardiofacial syndrome:: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
O Bartsch et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
A novel atypical 22q11.2 distal deletion in father and son
S. Garcia-Minaur et al.
JOURNAL OF MEDICAL GENETICS (2002)
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
RV Jamieson et al.
HUMAN MOLECULAR GENETICS (2002)
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
EA Lindsay et al.
NATURE (2001)
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
LA Jerome et al.
NATURE GENETICS (2001)
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome
DL Guris et al.
NATURE GENETICS (2001)
TBX1 is responsible for cardiovascular defects in Velo-Cardio-Facial/DiGeorge syndrome
S Merscher et al.
CELL (2001)