| scholarly article | Q13442814 |
| P50 | author | Jeffrey A Towbin | Q87444535 |
| John W. Belmont | Q30513809 | ||
| Kim L. McBride | Q37371145 | ||
| P2093 | author name string | Gloria A Zender | |
| Sara M Fitzgerald-Butt | |||
| Susan E Cole | |||
| Maurisa F Riley | |||
| P2860 | cites work | Echocardiographic diagnosis of heart disease in apparently healthy adolescents | Q42622929 |
| CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk | Q42825763 | ||
| Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study | Q43592447 | ||
| Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries. | Q52005527 | ||
| The aortic valve with two leaflets--a study in 2,000 autopsies. | Q53878068 | ||
| Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. | Q55221257 | ||
| NKX2.5mutations in patients with congenital heart disease | Q55671009 | ||
| Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve | Q57315168 | ||
| The congenitally bicuspid aortic valve. A study of 85 autopsy cases | Q71457515 | ||
| Echocardiographic and color flow Doppler findings in military pilot applicants | Q72108014 | ||
| Autosomal dominant inheritance of left ventricular outflow tract obstruction | Q81403556 | ||
| Notch signaling is essential for ventricular chamber development | Q24299001 | ||
| Mutations in NOTCH1 cause aortic valve disease | Q24307999 | ||
| Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms | Q24323103 | ||
| Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease | Q24629583 | ||
| Truncated mammalian Notch1 activates CBF1/RBPJk-repressed genes by a mechanism resembling that of Epstein-Barr virus EBNA2 | Q24650743 | ||
| The Notch1 receptor is cleaved constitutively by a furin-like convertase | Q24671866 | ||
| Notch signaling: cell fate control and signal integration in development | Q27861061 | ||
| NKX2.5 mutations in patients with tetralogy of fallot | Q28206089 | ||
| Jagged: A mammalian ligand that activates notch1 | Q28298760 | ||
| The divergent DSL ligand Dll3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligands | Q28584296 | ||
| Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation | Q28589469 | ||
| Notch signaling is essential for vascular morphogenesis in mice | Q29620377 | ||
| Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions | Q30502924 | ||
| The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations | Q30776464 | ||
| Deaths: preliminary data for 2004. | Q31049118 | ||
| Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001 | Q34338168 | ||
| Functional analysis of a recurrent missense mutation in Notch3 in CADASIL | Q35489815 | ||
| Hospital stays, hospital charges, and in-hospital deaths among infants with selected birth defects--United States, 2003. | Q36710732 | ||
| The multifaceted role of Notch in cardiac development and disease | Q37028771 | ||
| CADASIL-causing mutations do not alter Notch3 receptor processing and activation | Q40264257 | ||
| Leukemia-associated mutations within the NOTCH1 heterodimerization domain fall into at least two distinct mechanistic classes | Q40273258 | ||
| Ligand-induced signaling in the absence of furin processing of Notch1. | Q40833238 | ||
| Fringe differentially modulates Jagged1 and Delta1 signalling through Notch1 and Notch2. | Q40862987 | ||
| Familial aggregation of defects of the left-sided structures of the heart | Q41217000 | ||
| P433 | issue | 18 | |
| P921 | main subject | Notch receptor 1 | Q4044985 |
| aortic valve morphogenesis | Q14906410 | ||
| P304 | page(s) | 2886-2893 | |
| P577 | publication date | 2008-06-30 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling | |
| P478 | volume | 17 |
| Q90402668 | 6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype |
| Q37367970 | A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. |
| Q34314581 | A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands |
| Q82430100 | A nonsense variation p.Arg325X in the vascular endothelial growth factor-A gene may be associated with congenital tricuspid aortic valve stenosis |
| Q92195486 | A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease |
| Q52625501 | A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta. |
| Q34251241 | Advances in the treatment of aortic valve disease: is it time for companion diagnostics? |
| Q52652397 | Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions. |
| Q37078059 | Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects |
| Q36417290 | Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influences |
| Q41980468 | Cardiac, mandibular and thymic phenotypical association indicates that cranial neural crest underlies bicuspid aortic valve formation in hamsters |
| Q31040681 | Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. |
| Q92599834 | Clinical-pathological correlations of BAV and the attendant thoracic aortopathies. Part 2: Pluridisciplinary perspective on their genetic and molecular origins |
| Q50955653 | Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome. |
| Q94585607 | Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia |
| Q35226745 | Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes. |
| Q39092344 | Congenital heart disease: the crossroads of genetics, epigenetics and environment |
| Q97528922 | Contractility of Induced Pluripotent Stem Cell-Cardiomyocytes With an MYH6 Head Domain Variant Associated With Hypoplastic Left Heart Syndrome |
| Q27302374 | Cyclic stretch of embryonic cardiomyocytes increases proliferation, growth, and expression while repressing Tgf-β signaling |
| Q52667086 | De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome. |
| Q45870909 | Deriving genomic diagnoses without revealing patient genomes |
| Q35210975 | Directed differentiation of patient-specific induced pluripotent stem cells identifies the transcriptional repression and epigenetic modification of NKX2-5, HAND1, and NOTCH1 in hypoplastic left heart syndrome |
| Q36831801 | Endothelial Notch1 Is Required for Proper Development of the Semilunar Valves and Cardiac Outflow Tract |
| Q48233679 | Epigenetics for the pediatric cardiologist |
| Q38226670 | Etiology of valvular heart disease-genetic and developmental origins |
| Q36167703 | Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease |
| Q39117737 | Genetic basis of aortic valvular disease. |
| Q26765163 | Genetic testing in congenital heart disease: A clinical approach |
| Q26862793 | Genetics of congenital heart disease: the glass half empty |
| Q30470799 | ISL1 directly regulates FGF10 transcription during human cardiac outflow formation |
| Q34134235 | Identification of GATA6 sequence variants in patients with congenital heart defects. |
| Q92666060 | Identification of a 42-bp heart-specific enhancer of the notch1b gene in zebrafish embryos |
| Q24298680 | Identification of de novo mutations and rare variants in hypoplastic left heart syndrome |
| Q34089404 | Identification of dysfunctional modules and disease genes in congenital heart disease by a network-based approach |
| Q38803277 | Impact of MYH6 variants in hypoplastic left heart syndrome. |
| Q36371337 | Impact of Mendelian inheritance in cardiovascular disease |
| Q39379563 | Impact of Transcatheter Intervention on Myocardial Deformation in Patients with Coarctation of the Aorta |
| Q57761607 | Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases |
| Q34047018 | Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). |
| Q90238024 | Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts |
| Q28506602 | MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus |
| Q37220687 | MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. |
| Q39403456 | Managing Thoracic Aortic Aneurysm in Patients with Bicuspid Aortic Valve Based on Aortic Root-Involvement |
| Q45736369 | Maternal serum placental growth factor at 11-13 weeks' gestation and fetal cardiac defects |
| Q41108569 | Mechanisms of Smooth Muscle Cell Differentiation Are Distinctly Altered in Thoracic Aortic Aneurysms Associated with Bicuspid or Tricuspid Aortic Valves |
| Q38138883 | Mendelian forms of structural cardiovascular disease |
| Q37781313 | NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD) |
| Q37633121 | NOTCH1 Mutations in Aortic Stenosis: Association with Osteoprotegerin/RANK/RANKL. |
| Q38570387 | NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMT. |
| Q57030143 | Notch and interacting signalling pathways in cardiac development, disease, and regeneration |
| Q37785202 | Notch signaling in cardiac development and disease. |
| Q37874571 | Notch signaling in cardiac valve development and disease. |
| Q28505877 | Notch1 represses osteogenic pathways in aortic valve cells |
| Q26995476 | Of mice and men: molecular genetics of congenital heart disease |
| Q36178682 | Partitioning the heart: mechanisms of cardiac septation and valve development |
| Q33762797 | Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve |
| Q45804540 | Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve |
| Q34109905 | Rbm24a and Rbm24b are required for normal somitogenesis |
| Q41336885 | Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective |
| Q57785513 | Rebuttal to the invited comment of Opitz and Carey |
| Q34030111 | Role of glycans and glycosyltransferases in the regulation of Notch signaling |
| Q34665244 | Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve |
| Q57828161 | Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome |
| Q40452934 | The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study. |
| Q83309410 | The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome |
| Q36437151 | Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome |
| Q34274182 | Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve |
| Q46812710 | Variants in the NOTCH1 gene in patients with aortic coarctation. |
| Q28079792 | What Is New in Genetics of Congenital Heart Defects? |
| Q37871555 | What chick and mouse models have taught us about the role of the endocardium in congenital heart disease |
| Q90735529 | Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot |
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