Authors : Duijvesteijn N; Cooperative Research Centre for Sheep Industry Innovation, Armidale, NSW, 2351, Australia.; School of Environmental and Rural Science, University of New England, Armidale, NSW, 2351, Australia.

Subjects: Genome-Wide Association Study*/Genome-Wide Association Study*/Genome-Wide Association Study*/methods ; Genome-Wide Association Study*/Genome-Wide Association Study*/Genome-Wide Association Study*/veterinary ; Penetrance*

Source: Genetics, selection, evolution : GSE [Genet Sel Evol] 2024 Sep 03; Vol. 56 (1), pp. 61. Date of Electronic Publication: 2024 Sep 03.Publisher: BioMed Central Country of Publication: France NLM ID: 9114088 Publication Model: Electronic Cited Medium: Internet ISSN: 1297-9686

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Authors : Hitti-Malin, Rebekkah; Panneman, Daan; Corradi, Zelia

Subjects: inherited; macula; maculopathies

Source: Biomolecules. 14(3)

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Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.

Authors : Blanco R; Cardiology Department, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain.; Cardiology Department, Italian Hospital of Buenos Aires, Buenos Aires C1199ABB, Argentina.

Subjects: Fabry Disease*/Fabry Disease*/Fabry Disease*/genetics ; alpha-Galactosidase*/alpha-Galactosidase*/alpha-Galactosidase*/genetics ; Phenotype*

Source: International journal of molecular sciences [Int J Mol Sci] 2024 Apr 12; Vol. 25 (8). Date of Electronic Publication: 2024 Apr 12.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene.

Authors : Hung CC; Graduate Institute of Clinical Genomics, National Taiwan University College of Medicine, Taipei, Taiwan.; Lin SY

Subjects: Penetrance* ; Phenotype*; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics

Source: BMC medical genetics [BMC Med Genet] 2011 May 26; Vol. 12, pp. 76. Date of Electronic Publication: 2011 May 26.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Genomic Sequencing Expansion and Incomplete Penetrance

Authors : Shieh, Joseph TC

Subjects: Health Services and Systems; Health Sciences; Genetics

Source: Pediatrics. 143(Supplement 1)

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Authors : Goodrich, J.K.; Groop, Leif; Nilsson, Peter M

Subjects: database; detection method; disease severity

Source: Nature Communications EXODIAB: Excellence of Diabetes Research in Sweden EpiHealth: Epidemiology for Health. 12(1)

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Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients

Authors : Sample, Danielle C; Samadder, N Jewel; Pappas, Lisa M

Subjects: Biomedical and Clinical Sciences; Clinical Sciences; Digestive Diseases

Source: BMC Gastroenterology. 18(1)

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How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?

Authors : Jenkins, Dagan

Subjects: causal inference; genetic threshold effects; stochastic processes

Source: Philosophical Transactions of the Royal Society B: Biological Sciences , 379 (1900) , Article 20230045. (2024)

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Authors : Marsh, Ashley PL; Heron, Delphine; Edwards, Timothy J

Subjects: Biological Sciences; Genetics; Abnormalities

Source: Nature Genetics. 49(4)

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Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

Authors : Chittoor-Vinod VG; Department Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.; Nichols RJ

Subjects: Disease Susceptibility* ; Environment* ; Gene-Environment Interaction*

Source: International journal of molecular sciences [Int J Mol Sci] 2021 Jan 21; Vol. 22 (3). Date of Electronic Publication: 2021 Jan 21.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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نتائج البحث

فلترة النتائج

Segregation GWAS to linearize a non-additive locus with incomplete penetrance: an example of horn status in sheep.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.

Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene.

Genomic Sequencing Expansion and Incomplete Penetrance

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients

How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Genetic and Environmental Factors Influence the Pleomorphy of LRRK2 Parkinsonism.

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