Search Results

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:

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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:

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Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?

• Authors : Fierabracci A; Infectivology and Clinical Trials Research Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. .; Lanzillotta M

Subjects: Founder Effect* ; Genotype* ; Mutation*

• Source: Italian journal of pediatrics [Ital J Pediatr] 2021 Jun 02; Vol. 47 (1), pp. 126. Date of Electronic Publication: 2021 Jun 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium:

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Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.

• Authors : Kim SY; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea. .; Kim AR

Subjects: Founder Effect* ; Genetic Predisposition to Disease*; Asian People/Asian People/Asian People/*genetics Nonsyndromic Deafness

• Source: Journal of translational medicine [J Transl Med] 2015 Aug 13; Vol. 13, pp. 263. Date of Electronic Publication: 2015 Aug 13.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium:

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A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.

• Authors : Cuadrado-Corrales N; Basic Research Department, Epithelial Biomedicine Division, Regenerative Medicine Unit, CIEMAT, Madrid, Spain.; Sánchez-Jimeno C

Subjects: Founder Effect* ; Pedigree*; Epidermolysis Bullosa Dystrophica/Epidermolysis Bullosa Dystrophica/Epidermolysis Bullosa Dystrophica/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2010 Sep 29; Vol. 11, pp. 139. Date of Electronic Publication: 2010 Sep 29.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:

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Evidence for a "Founder Effect" among HIV-infected injection drug users (IDUs) in Pakistan.

• Authors : Rai MA; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.; Nerurkar VR

Subjects: Drug Users* ; Founder Effect*; HIV Infections/HIV Infections/HIV Infections/*epidemiology

• Source: BMC infectious diseases [BMC Infect Dis] 2010 Jan 12; Vol. 10, pp. 7. Date of Electronic Publication: 2010 Jan 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100968551 Publication Model: Electronic Cited Medium:

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Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.

• Authors : Zühlke C; Institute of Human Genetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. ; Dalski A

Subjects: Alleles* ; Founder Effect* ; Penetrance*

• Source: BMC medical genetics [BMC Med Genet] 2005 Jul 01; Vol. 6, pp. 27. Date of Electronic Publication: 2005 Jul 01.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium:

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Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.

• Authors : Mojbafan, Marzieh^1,2 (AUTHOR); Bahmani, Reza^1,3 (AUTHOR); Bagheri, Samira Dabbagh⁴ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 1/14/2020, Vol. 15 Issue 1, p1-10. 10p.

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TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.

• Authors : Zhang S; Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, P.R. China.; Qin H

Subjects: Mitochondrial Encephalomyopathies*/Mitochondrial Encephalomyopathies*/Mitochondrial Encephalomyopathies*/genetics ; Mitochondrial Encephalomyopathies*/Mitochondrial Encephalomyopathies*/Mitochondrial Encephalomyopathies*/pathology ; Mutation*

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 11; Vol. 19 (1), pp. 376. Date of Electronic Publication: 2024 Oct 11.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect

• Authors : Mojbafan, M.; Bahmani, R.; Bagheri, S.D.

Subjects: WE Musculoskeletal System

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