Search Results

Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.

• Authors : Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.

Subjects: Exome* ; Genetic Profile*; Genome-Wide Association Study

• Source: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2022 Sep; Vol. 297 (5), pp. 1289-1300. Date of Electronic Publication: 2022 Jun 26.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis.

• Authors : Salehi Z; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.; Keramatipour M

Subjects: Exome* ; Multiple Sclerosis*/Multiple Sclerosis*/Multiple Sclerosis*/genetics; DNA Polymerase III/DNA Polymerase III/DNA Polymerase III/genetics

• Source: Genomics [Genomics] 2021 Jul; Vol. 113 (4), pp. 2645-2655. Date of Electronic Publication: 2021 Jun 08.Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran.

• Authors : Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Whole Exome Sequencing Division, Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.

Subjects: Exome*/Exome*/Exome*/genetics ; Kidney Diseases*/Kidney Diseases*/Kidney Diseases*/diagnosis; Humans

• Source: Kidney360 [Kidney360] 2021 Mar 10; Vol. 2 (5), pp. 873-877. Date of Electronic Publication: 2021 Mar 10 (Print Publication: 2021).Publisher: Wolters Kluwer Health, Inc. on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 101766381 Publication Model:

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Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family.

• Authors : Radmanesh H; Department of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany; Department of Radiation Oncology, Hannover Medical School, Hannover, Germany

Subjects: Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Exome*; Female

• Source: European journal of medical genetics [Eur J Med Genet] 2022 Mar; Vol. 65 (3), pp. 104425. Date of Electronic Publication: 2022 Jan 13.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.

• Authors : Mohseni M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Babanejad M

Subjects: Exome/Exome/Exome/*genetics ; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics ; Hearing Loss/Hearing Loss/Hearing Loss/*genetics

• Source: Clinical genetics [Clin Genet] 2021 Jul; Vol. 100 (1), pp. 59-78. Date of Electronic Publication: 2021 Mar 24.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report.

• Authors : Amin M; Department of Cell and Molecular Biology, School of Chemistry, University of Kashan, Kashan, Iran.; Mahmoodi-Khaledi E

Subjects: Exome* ; Carcinoma, Squamous Cell*/Carcinoma, Squamous Cell*/Carcinoma, Squamous Cell*/genetics; Female

• Source: Iranian journal of medical sciences [Iran J Med Sci] 2023 Jul; Vol. 48 (4), pp. 420-424.Publisher: Shiraz University of Medical Sciences Country of Publication: Iran NLM ID: 8104374 Publication Model: Print Cited

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Genetic Investigation of an Iranian Supercentenarian by Whole Exome Sequencing.

• Authors : Akhtarkhavari T; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Joghataei MT

Subjects: Alleles*; Aging/Aging/Aging/*genetics ; Exome/Exome/Exome/*genetics

• Source: Archives of Iranian medicine [Arch Iran Med] 2015 Oct; Vol. 18 (10), pp. 688-97.Publisher: Academy of Medical Sciences of I.R. Iran Country of Publication: Iran NLM ID: 100889644

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Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.

• Authors : Ghasemi, Mohammad-Reza; Sadeghi, Hossein; Hashemi-Gorji, Farzad

• Source: BMC Medical Genomics. August 5, 2024, Vol. 17 Issue 1.

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Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing.

• Authors : Kohansal, Erfan; Naderi, Niloofar; Fazelifar, Amir Farjam

• Source: BMC Medical Genomics. May 7, 2024, Vol. 17 Issue 1.

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole‐exome sequencing.

• Authors : Fazelifar, Amir Farjam; Pourirahim, Maryam; Masoumi, Tannaz

Subjects: SEQUENCE analysis; PHYLOGENY; LONG QT syndromeIRAN

• Source: Journal of Arrhythmia; Jun2023, Vol. 39 Issue 3, p430-453, 24p

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