Search Results

Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.

• Authors : Mojbafan M; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran.; Department of medical genetics, Ali-Asghar Children's Hospital, Tehran, Iran.

Subjects: Founder Effect* ; Mutation*; Dysferlin/Dysferlin/Dysferlin/*genetics Limb-girdle muscular dystrophy, type 2B

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Dec; Vol. 7 (12), pp. e1029. Date of Electronic Publication: 2019 Nov 06.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Founder Effect of KHDC3L, p.M1V Mutation, on Iranian Patients with Recurrent Hydatidiform Moles.

• Authors : Fallahi, Jafar¹; Anvar, Zahra^2,3; Razban, Vahid¹

• Source: Iranian Journal of Medical Sciences. Mar2020, Vol. 45 Issue 2, p118-124. 7p.

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Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis.

• Authors : Kuźma-Kozakiewicz M; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Neurodegenerative Diseases Research Group, Medical University of Warsaw, Warsaw, Poland.

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics; Founder Effect ; Humans

• Source: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2021 Feb; Vol. 22 (1-2), pp. 80-85. Date of Electronic Publication: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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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A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4 .

• Authors : Zare Ashrafi F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Dorgaleleh S

Subjects: Sulfate Transporters*/Sulfate Transporters*/Sulfate Transporters*/genetics ; Connexin 26*/Connexin 26*/Connexin 26*/genetics; Humans

• Source: Archives of Iranian medicine [Arch Iran Med] 2024 Sep 01; Vol. 27 (9), pp. 522-526. Date of Electronic Publication: 2024 Sep 01.Publisher: Academy of Medical Sciences of I.R. Iran Country of Publication: Iran NLM ID: 100889644

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JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.

• Authors : Khojasteh M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Soleimani P

Subjects: Brain Diseases*/Brain Diseases*/Brain Diseases*/genetics ; Calcinosis*/Calcinosis*/Calcinosis*/genetics ; Pedigree*

• Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Aug; Vol. 45 (8), pp. 3829-3844. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene.

• Authors : Maleknejad, Shohreh¹ (AUTHOR); Dalili, Setila¹ (AUTHOR) ; Sharifi, Ameneh² (AUTHOR)

• Source: International Journal of Endocrinology. 8/5/2024, Vol. 2024, p1-8. 8p.

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Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

• Authors : Mousavi, Seyed Saeed¹ (AUTHOR); Karami, Hossein² (AUTHOR); Tamadoni, Ahmad³ (AUTHOR)

• Source: BioMed Research International. 1/30/2024, p1-11. 11p.

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Analysis of genetic diversity in a close population of Zandi sheep using genealogical information.

• Authors : Ghafouri-Kesbi F; Department of Animal Breeding and Genetics, Animal Science Research Institute of Iran, P O Box 1483, Karaj 3146618361, Iran.

Subjects: Genetic Variation* ; Genetics, Population*; Animal Population Groups/Animal Population Groups/Animal Population Groups/*genetics

• Source: Journal of genetics [J Genet] 2010 Dec; Vol. 89 (4), pp. 479-83.Publisher: Springer India in co-publication with Indian Academy of Sciences Country of Publication: India NLM ID: 2985113R Publication Model: Print Cited

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Mitochondrial DNA variation in Jordanians and their genetic relationship to other Middle East populations.

• Authors : González AM; Departamento de Genética, Facultad de Biología, Universidad de La Laguna, Tenerife, Spain. ; Karadsheh N

Subjects: Phylogeny* ; Polymorphism, Restriction Fragment Length*; Asian People/Asian People/Asian People/*classification

• Source: Annals of human biology [Ann Hum Biol] 2008 Mar-Apr; Vol. 35 (2), pp. 212-31.Publisher: Taylor & Francis Country of Publication: England NLM ID: 0404024 Publication Model: Print Cited Medium: Internet ISSN: 1464-5033

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