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Academic Journal

Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.

  • Authors : Melis M; SC Neurologia AOU Policlinico di Monserrato, Cagliari, Sardinia, Italy. .; Molari A

Subjects: Founder Effect* ; Mutation*; Creutzfeldt-Jakob Syndrome/Creutzfeldt-Jakob Syndrome/Creutzfeldt-Jakob Syndrome/*genetics

  • Source: Neurogenetics [Neurogenetics] 2020 Oct; Vol. 21 (4), pp. 251-257. Date of Electronic Publication: 2020 May 26.Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.

  • Authors : Busonero F; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato (Cagliari), Italy.; Steri M

Subjects: Founder Effect* ; Mutation*; Platelet Glycoprotein GPIb-IX Complex/Platelet Glycoprotein GPIb-IX Complex/Platelet Glycoprotein GPIb-IX Complex/*genetics

  • Source: British journal of haematology [Br J Haematol] 2020 Dec; Vol. 191 (5), pp. e124-e128. Date of Electronic Publication: 2020 Nov 20.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy.

  • Authors : Grimaldi S; Consorzio Siciliano di Riabilitazione - Associazione Italiana Assistenza Spastici (CSR-AIAS), Paceco, Trapani, Italy.; Cupidi C

Subjects: Founder Effect*; Mutation/Mutation/Mutation/*genetics ; Myoclonic Epilepsies, Progressive/Myoclonic Epilepsies, Progressive/Myoclonic Epilepsies, Progressive/*epidemiology

  • Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2019 Dec; Vol. 34 (12), pp. 1919-1924. Date of Electronic Publication: 2019 Nov 21.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago.

  • Authors : Sbalchiero A; General Biology and Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Abu Hweij Y

Subjects: Activin Receptors, Type II*/Activin Receptors, Type II*/Activin Receptors, Type II*/genetics ; Telangiectasia, Hereditary Hemorrhagic*/Telangiectasia, Hereditary Hemorrhagic*/Telangiectasia, Hereditary Hemorrhagic*/diagnosis; Endoglin/Endoglin/Endoglin/genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Aug; Vol. 10 (8), pp. e1972. Date of Electronic Publication: 2022 May 27.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region.

  • Authors : Bertolin C; Department of Neurosciences, University of Padova, Padova, Italy.; Querin G

Subjects: Founder Effect* ; Haplotypes*/Haplotypes*/Haplotypes*/genetics ; Registries*

  • Source: European journal of neurology [Eur J Neurol] 2019 Mar; Vol. 26 (3), pp. 519-524. Date of Electronic Publication: 2018 Dec 07.Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331

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Academic Journal

Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant.

  • Authors : De Bonis M; Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Polo Scienze delle Immagini, di Laboratorio ed Infettivologiche, Largo Agostino Gemelli 1, 00168, Roma, Italy.; Minucci A

Subjects: Founder Effect* ; Genetic Predisposition to Disease*; BRCA1 Protein/BRCA1 Protein/BRCA1 Protein/*genetics

  • Source: Familial cancer [Fam Cancer] 2019 Jan; Vol. 18 (1), pp. 29-35.Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print Cited Medium: Internet ISSN: 1573-7292

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Academic Journal

p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy.

  • Authors : Giacché M; Endocrine and Metabolic Disease Unit, Department of Medicine, ASST Spedali Civili of Brescia, Brescia, Italy.; Panarotto A

Subjects: Amino Acid Substitution*; Carcinoma, Neuroendocrine/Carcinoma, Neuroendocrine/Carcinoma, Neuroendocrine/*genetics ; Carcinoma, Neuroendocrine/Carcinoma, Neuroendocrine/Carcinoma, Neuroendocrine/*surgery Thyroid cancer, medullary

  • Source: Human mutation [Hum Mutat] 2019 Jul; Vol. 40 (7), pp. 926-937. Date of Electronic Publication: 2019 Apr 29.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.

Subjects: Founder Effect*; Erythrocyte Indices/Erythrocyte Indices/Erythrocyte Indices/*genetics ; Genome-Wide Association Study/Genome-Wide Association Study/Genome-Wide Association Study/*methods

  • Source: PloS one [PLoS One] 2013 Jul 31; Vol. 8 (7), pp. e69206. Date of Electronic Publication: 2013 Jul 31 (Print Publication: 2013).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Electronic-Print Cited Medium: Internet

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Academic Journal

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

  • Authors : Muelas N; Department of Neurology, Hospital Universitari La Fe, Valencia, Spain.; Hackman P

Subjects: Founder Effect* ; Mutation*; Cardiac Myosins/Cardiac Myosins/Cardiac Myosins/*genetics

  • Source: Clinical genetics [Clin Genet] 2012 May; Vol. 81 (5), pp. 491-4. Date of Electronic Publication: 2011 Apr 11.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

Subjects: Founder Effect* ; Gene Frequency* ; Mutation*

  • Source: American journal of hematology [Am J Hematol] 2011 Sep; Vol. 86 (9), pp. 727-32.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model: Print Cited Medium: Internet ISSN: 1096-8652

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  • 1-10 of  82 results for ""Founder Effect""