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A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family.

  • Authors : Chen J; Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, 330006, Jiangxi, China.; Yuan H

Subjects: Codon, Nonsense* ; Genes, Dominant*; Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/*genetics

  • Source: BMC cardiovascular disorders [BMC Cardiovasc Disord] 2020 Jan 20; Vol. 20 (1), pp. 27. Date of Electronic Publication: 2020 Jan 20.Publisher: BioMed Central Country of Publication: England NLM ID: 100968539 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2261

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Academic Journal

ZDOG: zooming in on dominating genes with mutations in cancer pathways.

  • Authors : Alberts R; Department of Mathematics and Computational Biology Programme, National University of Singapore, Singapore, 119076, Singapore. .; Chen J

Subjects: Genes, Dominant* ; User-Computer Interface*; Neoplasms/Neoplasms/Neoplasms/*genetics

  • Source: BMC bioinformatics [BMC Bioinformatics] 2019 Dec 30; Vol. 20 (1), pp. 740. Date of Electronic Publication: 2019 Dec 30.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105

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Academic Journal

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

  • Authors : Schlaweck AE; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Tazi-Ahnini R

Subjects: Chromosomes, Human, Pair 4* ; Genes, Dominant* ; Genetic Predisposition to Disease*

  • Source: PloS one [PLoS One] 2019 Dec 02; Vol. 14 (12), pp. e0225943. Date of Electronic Publication: 2019 Dec 02 (Print Publication: 2019).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Combined effects of dosage compensation and incomplete dominance on gene expression in triploid cyprinids.

  • Authors : Ren L; State Key Laboratory of Developmental Biology of Freshwater Fish, Hunan Normal University, Changsha, Hunan 410081, P.R. China.; College of Life Sciences, Hunan Normal University, Changsha, Hunan 410081, P.R. China.

Subjects: Dosage Compensation, Genetic* ; Genes, Dominant* ; Polyploidy*

  • Source: DNA research : an international journal for rapid publication of reports on genes and genomes [DNA Res] 2019 Dec 01; Vol. 26 (6), pp. 485-494.Publisher: Oxford University Press Country of Publication: England NLM ID: 9423827 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

  • Authors : Watkins WS; Department of Human Genetics, University of Utah, Salt Lake City, UT, 84112, USA.; Hernandez EJ

Subjects: Genes, Dominant* ; Genes, Recessive* ; Mutation*

  • Source: Nature communications [Nat Commun] 2019 Oct 17; Vol. 10 (1), pp. 4722. Date of Electronic Publication: 2019 Oct 17.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.

  • Authors : Xiao X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, China.; Sun W

Subjects: Chromosomes, Human, Pair 11* ; Genes, Dominant* ; Genetic Association Studies* Hyperopia, High

  • Source: Human genetics [Hum Genet] 2019 Oct; Vol. 138 (10), pp. 1077-1090. Date of Electronic Publication: 2019 Jun 06.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.

  • Authors : Kalayinia S; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.; Cardiogenetics Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

Subjects: Genes, Dominant* ; Translocation, Genetic*; Ethnic Groups/Ethnic Groups/Ethnic Groups/*genetics

  • Source: Journal of clinical laboratory analysis [J Clin Lab Anal] 2019 Sep; Vol. 33 (7), pp. e22923. Date of Electronic Publication: 2019 May 22.Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2825

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Academic Journal

Patients with tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) are hypersensitive to Toll-like receptor 9 stimulation.

  • Authors : Negm OH; School of Medicine, Queen's Medical Centre, University of Nottingham, Nottingham, UK.; Medical Microbiology and Immunology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Subjects: Genes, Dominant* ; Mutation*; Autoimmune Diseases/Autoimmune Diseases/Autoimmune Diseases/*immunology

  • Source: Clinical and experimental immunology [Clin Exp Immunol] 2019 Sep; Vol. 197 (3), pp. 352-360. Date of Electronic Publication: 2019 May 22.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 0057202 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Carbohydrate metabolism genes dominant in a subtropical marine mangrove ecosystem revealed by metagenomics analysis.

  • Authors : Zhao H; State Key Laboratory for Conservation and Utilization of Subtropical Agro-bioresources, College of Life Science and Technology, Guangxi University, Guangxi, 530004, P. R. China.; Yan B

Subjects: Archaea*/Archaea*/Archaea*/classification ; Archaea*/Archaea*/Archaea*/genetics ; Archaea*/Archaea*/Archaea*/metabolism

  • Source: Journal of microbiology (Seoul, Korea) [J Microbiol] 2019 Jul; Vol. 57 (7), pp. 575-586. Date of Electronic Publication: 2019 Jun 27.Publisher: Microbiological Society Of Korea Country of Publication: Korea (South) NLM ID: 9703165 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Urethane-induced Mammary Carcinogenesis Susceptibility in Transgenic Mice Expressing a Dominant-negative TGF-β Type II Receptor.

  • Authors : Shibata MA; Department of Anatomy and Cell Biology, Division of Life Sciences, Osaka Medical College, Takatsuki, Japan .; Shibata E

Subjects: Genes, Dominant*; Carcinogenesis/Carcinogenesis/Carcinogenesis/*pathology ; Mammary Neoplasms, Animal/Mammary Neoplasms, Animal/Mammary Neoplasms, Animal/*genetics

  • Source: Anticancer research [Anticancer Res] 2020 May; Vol. 40 (5), pp. 2687-2694.Publisher: International Institute of Anticancer Research Country of Publication: Greece NLM ID: 8102988 Publication Model: Print Cited Medium: Internet

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  • 1-10 of  21,358 results for ""Genes, Dominant""