Search Results

Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in MYD88 Gene: A Founder Effect?

• Authors : Romano, Roberta¹ (AUTHOR); Cillo, Francesca¹ (AUTHOR); Grilli, Laura¹ (AUTHOR)

• Source: Life (2075-1729). Jan2025, Vol. 15 Issue 1, p20. 9p.

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Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.

• Authors : Chkioua L; Research Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy, University of Monastir, Monastir, Tunisia. .; El Fissi H

Subjects: Founder Effect* ; Mucopolysaccharidosis I*/Mucopolysaccharidosis I*/Mucopolysaccharidosis I*/genetics ; Haplotypes*

• Source: BMC genomics [BMC Genomics] 2024 Oct 09; Vol. 25 (1), pp. 948. Date of Electronic Publication: 2024 Oct 09.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

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Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.

• Authors : Du YC; Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Hangzhou, Zhejiang, 310009, China.; Ma LH

Subjects: Founder Effect* ; Mucolipidoses*/Mucolipidoses*/Mucolipidoses*/genetics; Adolescent Neuraminidase 1 deficiency

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 30; Vol. 19 (1), pp. 362. Date of Electronic Publication: 2024 Sep 30.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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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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Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants

• Authors : Pei-Shan Wang; Xin-Xia Yang; Qiao Wei

Subjects: Amyotrophic lateral sclerosis; SOD1; Chinese

• Source: Annals of Medicine, Vol 56, Iss 1 (2024)

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Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families.

• Authors : Mendiola-Vidal, Namibia Guadalupe^1,2 (AUTHOR) ; Contreras-Cubas, Cecilia¹ (AUTHOR) ; Barajas-Olmos, Francisco¹ (AUTHOR)

• Source: Life (2075-1729). Nov2024, Vol. 14 Issue 11, p1445. 9p.

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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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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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