Search Results

Circum-Mediterranean influence in the Y-chromosome lineages associated with prostate cancer in Mexican men: A Converso heritage founder effect?

• Authors : Álvarez-Topete E; Departamento de Toxicología, CINVESTAV-IPN, Mexico City, Mexico.; Torres-Sánchez LE

Subjects: Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/genetics ; Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/epidemiology ; Chromosomes, Human, Y*/Chromosomes, Human, Y*/Chromosomes, Human, Y*/genetics

• Source: PloS one [PLoS One] 2024 Aug 16; Vol. 19 (8), pp. e0308092. Date of Electronic Publication: 2024 Aug 16 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect.

• Authors : Borisova TV; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677013, Yakutsk, Russia.; Cherdonova AM

Subjects: Hearing Loss*/Hearing Loss*/Hearing Loss*/genetics ; Hearing Loss*/Hearing Loss*/Hearing Loss*/epidemiology ; Founder Effect*

• Source: Scientific reports [Sci Rep] 2024 Jul 03; Vol. 14 (1), pp. 15342. Date of Electronic Publication: 2024 Jul 03.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

• Authors : Gomes ME; Laboratório de Biologia Molecular/Medicina Genômica, Centro de Genética Médica Dr. José Carlos Cabral de Almeida & Serviço de Referência para Doenças Raras - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF) - FIOCRUZ, Rio de Janeiro, Brazil. .; Kehdy F

Subjects: Founder Effect* ; Hirschsprung Disease*/Hirschsprung Disease*/Hirschsprung Disease*/genetics ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/genetics Cartilage-hair hypoplasia

• Source: Scientific reports [Sci Rep] 2024 Jun 11; Vol. 14 (1), pp. 13436. Date of Electronic Publication: 2024 Jun 11.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Extreme founder effect associated with hyperglycemia and hyperlipidemia on the island of NIAS/Indonesia

• Authors : Ingo Kennerknecht; Johannes M. Hämmerle; Manfred Fobker

Subjects: Island of Nias; Genetic bottleneck; Hyperglycemia

• Source: Atherosclerosis Plus, Vol 57, Iss , Pp 26-29 (2024)

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High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect

• Authors : Tuyara V. Borisova; Aleksandra M. Cherdonova; Vera G. Pshennikova

Subjects: Hearing loss; MT-RNR1; m.1555A > G

• Source: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

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Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder

• Authors : Bender, Chelsea; Woo, Elizabeth Geena; Guan, Bin

Subjects: Biological Sciences; Genetics; Rare Diseases

• Source: Genes. 13(4)

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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients

• Authors : Maria Eduarda Gomes; Fernanda Kehdy; Fernanda Saloum de Neves-Manta

Subjects: Medicine; Science

• Source: Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)

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RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod–Cone Dystrophy: Potential Founder Effect in Western Sicily

• Authors : Fabiana D’Esposito; Viviana Randazzo; Maria Igea Vega

Subjects: rod–cone dystrophy; retinitis pigmentosa; RP1 gene

• Source: Medicina, Vol 60, Iss 2, p 254 (2024)

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Mitochondrial DNA Sequence Variation in White-Tailed Deer (Odocoileus virginianus) in New England: Evidence for Founder Effect on Nantucket Island.

• Authors : Beckwitt, Richard¹ (AUTHOR) ; Bois, Sarah² (AUTHOR); Connolly, Bryan³ (AUTHOR)

• Source: Northeastern Naturalist. 2023, Vol. 30 Issue 4, p382-392. 11p.

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Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect.

• Authors : Sharma, Ritika¹ (AUTHOR); Jamwal, Manu¹ (AUTHOR); Senee, Hari Kishan¹ (AUTHOR)

• Source: Haemophilia. Mar2023, Vol. 29 Issue 2, p591-599. 9p. 2 Charts.

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