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Academic Journal

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

  • Authors : Esperón-Moldes U; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.; Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía, Obstetricia e Pediatría, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.

Subjects: Founder Effect* ; Genes, Recessive* ; Mutation*

  • Source: PloS one [PLoS One] 2020 Feb 18; Vol. 15 (2), pp. e0229025. Date of Electronic Publication: 2020 Feb 18 (Print Publication: 2020).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

Identification of two recessive etiolation genes (py1, py2) in pakchoi (Brassica rapa L. ssp. chinensis).

  • Authors : Zhang K; College of Life Sciences, Shanxi Datong University, Datong, 037009, People's Republic of China.; Mu Y

Subjects: Genes, Plant* ; Genes, Recessive*; Brassica rapa/Brassica rapa/Brassica rapa/*genetics

  • Source: BMC plant biology [BMC Plant Biol] 2020 Feb 10; Vol. 20 (1), pp. 68. Date of Electronic Publication: 2020 Feb 10.Publisher: BioMed Central Country of Publication: England NLM ID: 100967807 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2229

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Academic Journal

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

  • Authors : Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Subjects: Genes, Recessive*; Epilepsy/Epilepsy/Epilepsy/*genetics ; Loss of Function Mutation/Loss of Function Mutation/Loss of Function Mutation/*genetics

  • Source: Nature communications [Nat Commun] 2020 Jan 30; Vol. 11 (1), pp. 595. Date of Electronic Publication: 2020 Jan 30.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Transgenerational inheritance of impaired larval T cell development in zebrafish.

  • Authors : Iwanami N; Department of Developmental Immunology, Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108, Freiburg, Germany.; Center for Bioscience Research and Education, Utsunomiya University, 350 Mine-machi, Utsunomiya, Tochigi, 321-8505, Japan.

Subjects: Genes, Recessive*; Cell Differentiation/Cell Differentiation/Cell Differentiation/*genetics ; Larva/Larva/Larva/*growth & development

  • Source: Nature communications [Nat Commun] 2020 Sep 09; Vol. 11 (1), pp. 4505. Date of Electronic Publication: 2020 Sep 09.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic 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

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

  • Authors : Capalbo A; Igenomix Reproductive Genetic Laboratory, Marostica, Italy.; DAHFMO Unit of Histology and Medical Embryology, Sapienza University of Rome, Italy.

Subjects: Genes, Recessive* ; Genetic Carrier Screening* ; Genetic Predisposition to Disease*

  • Source: PLoS genetics [PLoS Genet] 2019 Oct 07; Vol. 15 (10), pp. e1008409. Date of Electronic Publication: 2019 Oct 07 (Print Publication: 2019).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Autosomal recessive diseases among the Israeli Arabs.

  • Authors : Zlotogora J; Hadassah-Hebrew University Medical School, Jerusalem, Israel. .

Subjects: Genes, Recessive* ; Genetic Predisposition to Disease*; Arabs/Arabs/Arabs/*genetics

  • Source: Human genetics [Hum Genet] 2019 Oct; Vol. 138 (10), pp. 1117-1122. Date of Electronic Publication: 2019 Jun 26.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

  • Authors : Ouyang Q; Developmental Disorders Genetics Research Program, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University and Emma Pendleton Bradley Hospital, East Providence, RI, USA.; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI, USA.

Subjects: Genes, Recessive* ; Genetic Predisposition to Disease* ; Mutation*

  • Source: Human genetics [Hum Genet] 2019 Oct; Vol. 138 (10), pp. 1183-1200. Date of Electronic Publication: 2019 Aug 30.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD -encoded phosphoinositide 3-kinase δ.

  • Authors : Swan DJ; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne.; Aschenbrenner D

Subjects: Enterocolitis*/Enterocolitis*/Enterocolitis*/enzymology ; Enterocolitis*/Enterocolitis*/Enterocolitis*/genetics ; Enterocolitis*/Enterocolitis*/Enterocolitis*/pathology

  • Source: Haematologica [Haematologica] 2019 Oct; Vol. 104 (10), pp. e483-e486. Date of Electronic Publication: 2019 May 09.Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.

  • Authors : Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, 24 boulevard du Montparnasse, Paris, EU, France. .; Imagine Institute, Paris University, Paris, EU, France. .

Subjects: Alu Elements* ; DNA Transposable Elements* ; Genes, Recessive*

  • Source: Journal of clinical immunology [J Clin Immunol] 2019 Oct; Vol. 39 (7), pp. 739-742. Date of Electronic Publication: 2019 Aug 03.Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  16,239 results for ""Genes, Recessive""