| meta-analysis | Q815382 |
| scholarly article | Q13442814 |
| P50 | author | Jonathan Levine | Q96251130 |
| Judith A Goodship | Q115121469 | ||
| P2093 | author name string | Bernard Keavney | |
| Jeffrey W Innis | |||
| Jill A Rosenfeld | |||
| Ana Töpf | |||
| Mark W Russell | |||
| Todd Ackley | |||
| Aoy Tomita-Mitchell | |||
| William W Russell | |||
| Thor Thorsson | |||
| Rachel Soemedi | |||
| Sarah B Geisler | |||
| Marwan Tayeh | |||
| Nour El-Kashlan | |||
| P2860 | cites work | CIR, a corepressor linking the DNA binding factor CBF1 to the histone deacetylase complex | Q22008610 |
| Role of TBX1 in human del22q11.2 syndrome | Q24298685 | ||
| Mutations in NOTCH1 cause aortic valve disease | Q24307999 | ||
| Haploinsufficiency of TAB2 causes congenital heart defects in humans | Q24314581 | ||
| Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin | Q24606491 | ||
| Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25 | Q24622683 | ||
| DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources | Q24644530 | ||
| Identification and characterization of a novel MAP kinase kinase kinase, MLTK | Q28141833 | ||
| Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis | Q28145709 | ||
| Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice | Q28204189 | ||
| DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 | Q28204282 | ||
| The paired-like homeo box gene MHox is required for early events of skeletogenesis in multiple lineages | Q28504916 | ||
| Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome | Q28505391 | ||
| Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome | Q28508893 | ||
| Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways | Q28511687 | ||
| TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome | Q28512803 | ||
| MicroRNA-214 promotes myogenic differentiation by facilitating exit from mitosis via down-regulation of proto-oncogene N-ras | Q28588640 | ||
| Collaboratively charting the gene-to-phenotype network of human congenital heart defects | Q28752037 | ||
| A copy number variation morbidity map of developmental delay | Q29616033 | ||
| Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion | Q33717829 | ||
| Comparison of shunt types in the Norwood procedure for single-ventricle lesions | Q33936319 | ||
| The molecular genetics of congenital heart disease: a review of recent developments | Q34100720 | ||
| Heart defects and other features of the 22q11 distal deletion syndrome | Q34305935 | ||
| De novo mutations in histone-modifying genes in congenital heart disease. | Q34344183 | ||
| Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve | Q34965424 | ||
| Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature | Q35008301 | ||
| Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. | Q35546481 | ||
| Human gene copy number spectra analysis in congenital heart malformations | Q36185458 | ||
| Transcription factor Sp3 knockout mice display serious cardiac malformations. | Q36316478 | ||
| Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease | Q36439318 | ||
| Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia | Q36829213 | ||
| De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot | Q37353964 | ||
| Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome | Q37759922 | ||
| Staged single-ventricle palliation in 2011: outcomes and expectations | Q37913552 | ||
| Transcription factor pathways and congenital heart disease. | Q37997218 | ||
| An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy | Q38068037 | ||
| Drayer's syndrome of intellectual disability, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter). | Q41938940 | ||
| Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. | Q43073414 | ||
| De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes | Q43075141 | ||
| PRRX1 is mutated in a fetus with agnathia-otocephaly. | Q51889592 | ||
| Clinical features of 78 adults with 22q11 Deletion Syndrome. | Q51925287 | ||
| Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings. | Q53150475 | ||
| Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1. | Q54531000 | ||
| P433 | issue | 3 | |
| P304 | page(s) | 193-208 | |
| P577 | publication date | 2014-04-11 | |
| P1433 | published in | Congenital Heart Disease | Q15761142 |
| P1476 | title | Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development | |
| P478 | volume | 10 |
| Q37367970 | A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. |
| Q52663753 | Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes. |
| Q54787395 | Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. |
| Q36494101 | Choose your destiny: Make a cell fate decision with COUP-TFII. |
| Q53558945 | Duplication of HEY2 in cardiac and neurologic development. |
| Q36905138 | Genetics of congenital heart disease |
| Q90715551 | Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease |
| Q50211802 | Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test |
| Q49893514 | Notch signaling regulates Hey2 expression in a spatiotemporal dependent manner during cardiac morphogenesis and trabecular specification. |
| Q34254472 | Refining analyses of copy number variation identifies specific genes associated with developmental delay |
| Q33894532 | The importance of copy number variation in congenital heart disease |
| Q36437151 | Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome |
| Q43121718 | Transgenerational cardiology: One way to a baby's heart is through the mother |
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