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Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia.
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- Human Genetics, 2002, v. 110, n. 2, p. 157, doi. 10.1007/s00439-001-0655-5
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- Article
Congenital cardiac disease and inbreeding: specific defects escape higher risk due to parental consanguinity.
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- Cardiology in the Young, 2007, v. 17, n. 4, p. 414, doi. 10.1017/S1047951107000704
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- Article
Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.
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- Human Molecular Genetics, 2008, v. 17, n. 22, p. 3459, doi. 10.1093/hmg/ddn239
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- Article
TRPM4 non-selective cation channel variants in long QT syndrome.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0397-4
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- Article
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.
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- Molecular Syndromology, 2019, v. 10, n. 4, p. 209, doi. 10.1159/000500215
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- Article
Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes.
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- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 923, doi. 10.1038/sj.ejhg.5200555
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- Article
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 704
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- Article
Ciliary Beating Recovery in Deficient Human Airway Epithelial Cells after Lentivirus Ex Vivo Gene Therapy.
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- PLoS Genetics, 2009, v. 5, n. 3, p. 1, doi. 10.1371/journal.pgen.1000422
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- Article
Evidence for genetic heterogeneity in Carvajal syndrome.
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- Cell & Tissue Research, 2012, v. 348, n. 2, p. 261, doi. 10.1007/s00441-012-1351-6
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- Article
Un gène codant une métalloprotéase impliqué dans l’hétérotaxie.
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- Médecine Sciences, 2016, v. 32, n. 6, p. 551, doi. 10.1051/medsci/20163206007
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- Article
Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054131
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- Article
Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects.
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- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028872
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- Article
Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 720, doi. 10.1002/ajmg.a.35214
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- Article
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
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- BMC Medical Genetics, 2012, v. 13, n. 1, p. 105, doi. 10.1186/1471-2350-13-105
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- Article
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.
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- Human Mutation, 2007, v. 28, n. 6, p. 563, doi. 10.1002/humu.20480
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- Article
TRPM4 in cardiac electrical activity.
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- Cardiovascular Research, 2015, v. 108, n. 1, p. 21, doi. 10.1093/cvr/cvv213
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- Article
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
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- Human Molecular Genetics, 2024, v. 33, n. 2, p. 150, doi. 10.1093/hmg/ddad171
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- Article
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2566, doi. 10.1002/ajmg.a.38329
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- Article
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 959, doi. 10.1002/ajmg.a.38102
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- Article
Familial co-occurrence of congenital heart defects follows distinct patterns.
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- European Heart Journal, 2018, v. 39, n. 12, p. 1015, doi. 10.1093/eurheartj/ehx314
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- Article
A de novo Mutation of the Beta Cardiac Myosin Heavy Chain Gene in an Infantile Restrictive Cardiomyopathy.
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- Congenital Heart Disease, 2008, v. 3, n. 2, p. 138, doi. 10.1111/j.1747-0803.2008.00165.x
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Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous lebanese family.
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- Annals of Neurology, 2001, v. 50, n. 2, p. 250, doi. 10.1002/ana.1286
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- Article
Antenatal description of large 4q13.2q21.23 deletion and outcomes.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 2, p. 1, doi. 10.1002/mgg3.2397
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- Article
A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
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- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0127903
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- Article