نتائج البحث

Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.

• Authors : Mosallaei M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Ehtesham N

Subjects: Guanine Nucleotide Exchange Factors*/Guanine Nucleotide Exchange Factors*/Guanine Nucleotide Exchange Factors*/genetics ; Guanine Nucleotide Exchange Factors*/Guanine Nucleotide Exchange Factors*/Guanine Nucleotide Exchange Factors*/metabolism ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Apr; Vol. 10 (4), pp. e1894. Date of Electronic Publication: 2022 Feb 17.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations.

• Authors : Saghafi, Shiva^1,2; Zandieh, Fariborz³; Fazlollahi, Mohammad Reza^1,2

• Source: Iranian Journal of Allergy, Asthma & Immunology. Jun2022, Vol. 21 Issue 3, p355-363. 9p.

تفاصيل العنوان

A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis.

• Authors : Daneshmandpour Y; Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.; Cytogene Genetic Diagnostic Laboratory, Tabriz, Iran.

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics; Humans ; Iran Amyotrophic Lateral Sclerosis 2, Juvenile

• Source: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2023 Feb; Vol. 24 (1-2), pp. 148-151. Date of Electronic Publication: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

Natural selection at the RASGEF1C (GGC) repeat in human and divergent genotypes in late-onset neurocognitive disorder.

• Authors : Jafarian Z; Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Khamse S

Subjects: Microsatellite Repeats*; Late Onset Disorders/Late Onset Disorders/Late Onset Disorders/*genetics ; Neurocognitive Disorders/Neurocognitive Disorders/Neurocognitive Disorders/*genetics

• Source: Scientific reports [Sci Rep] 2021 Sep 28; Vol. 11 (1), pp. 19235. Date of Electronic Publication: 2021 Sep 28.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome.

• Authors : Aghebati-Maleki A; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. .; Shahani T

Subjects: Guanine Nucleotide Exchange Factors/Guanine Nucleotide Exchange Factors/Guanine Nucleotide Exchange Factors/*genetics ; Immunologic Deficiency Syndromes/Immunologic Deficiency Syndromes/Immunologic Deficiency Syndromes/*genetics ; Mevalonate Kinase Deficiency/Mevalonate Kinase Deficiency/Mevalonate Kinase Deficiency/*genetics

• Source: Iranian journal of allergy, asthma, and immunology [Iran J Allergy Asthma Immunol] 2020 Apr 16; Vol. 19 (2), pp. 193-199. Date of Electronic Publication:Publisher: Tehran University of Medical Sciences Country of Publication: Iran NLM ID: 101146178 Publication Model: Electronic

تفاصيل العنوان

The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis.

• Authors : Tavassoli M; Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Abolhassani H

Subjects: Guanine Nucleotide Exchange Factors/Guanine Nucleotide Exchange Factors/Guanine Nucleotide Exchange Factors/*genetics ; Infections/Infections/Infections/*epidemiology ; Job Syndrome/Job Syndrome/Job Syndrome/*epidemiology

• Source: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology [Pediatr Allergy Immunol] 2019 Jun; Vol. 30 (4), pp. 469-478. Date Publisher: Blackwell Publishing Country of Publication: England NLM ID: 9106718 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

Inflammatory and immune response genes: A genetic analysis of inhibitor development in Iranian hemophilia A patients.

• Authors : Naderi N; a Iranian Comprehensive Hemophilia Care Center , Tehran , Iran.; Yousefi H

Subjects: Alleles* ; Gene Frequency* ; Polymorphism, Genetic*

• Source: Pediatric hematology and oncology [Pediatr Hematol Oncol] 2019 Feb; Vol. 36 (1), pp. 28-39. Date of Electronic Publication: 2019 Mar 19.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8700164 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان