المؤلفون: Jamshidi F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Alley, Daneshjoo Blvd., Evin St., 1985713834, Tehran, Iran., Shokouhian E; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Alley, Daneshjoo Blvd., Evin St., 1985713834, Tehran, Iran., Mohseni M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Alley, Daneshjoo Blvd., Evin St., 1985713834, Tehran, Iran., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Alley, Daneshjoo Blvd., Evin St., 1985713834, Tehran, Iran., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Alley, Daneshjoo Blvd., Evin St., 1985713834, Tehran, Iran., Babanejad M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Alley, Daneshjoo Blvd., Evin St., 1985713834, Tehran, Iran.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 May; Vol. 11 (5), pp. e2168. Date of Electronic Publication: 2023 Mar 19.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Microtia*/genetics , Deafness*/genetics , Ear, Inner*/abnormalities, Humans ; Frameshift Mutation ; Homozygote ; Iran ; Sequence Deletion ; Syndrome

SCR Disease Name: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia

المؤلفون: Dianatpour M; Department of Medical Genetic, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Smith E; Department of Internal Medicine, Yale Cardiovascular Research Center, Yale University, School of Medicine, New Haven, CT, United States. Electronic address: emily.smith@yale.edu., Hashemi SB; Department of Otolaryngology, Shiraz University of Medical Sciences, Shiraz, Iran., Farazifard MA; Department of Medical Genetic, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran., Nezafat N; Pharmaceutical Sciences Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; Department of Pharmaceutical Biotechnology, School of Pharmacy, Shiraz University of Medical Sciences, Shiraz, Iran., Razban V; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Mani A; Department of Internal Medicine, Yale Cardiovascular Research Center, Yale University, School of Medicine, New Haven, CT, United States. Electronic address: arya.mani@yale.edu.

المصدر: Gene [Gene] 2021 Apr 30; Vol. 778, pp. 145464. Date of Electronic Publication: 2021 Jan 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Mutation, Missense*, Genetic Predisposition to Disease/*genetics , Hearing Loss/*genetics, Connexin 26/chemistry ; Connexin 26/genetics ; Consanguinity ; Female ; Homozygote ; Humans ; Iran ; Male ; Membrane Proteins/chemistry ; Membrane Proteins/genetics ; Models, Molecular ; Myosins/chemistry ; Myosins/genetics ; Pedigree ; Protein Stability ; Receptors, Estrogen/chemistry ; Receptors, Estrogen/genetics ; Exome Sequencing

المؤلفون: Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA., Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA., Li H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Sedlazeck FJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Pacific Northwest Research Institute, Seattle, Washington, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Mar; Vol. 191 (3), pp. 794-804. Date of Electronic Publication: 2023 Jan 04.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly*/genetics, Infant, Newborn ; Humans ; Codon, Terminator ; Iran ; Microtubule-Associated Proteins/genetics ; Frameshift Mutation/genetics ; Pedigree

المؤلفون: Noavar S; Pharmaceutical Sciences Research Center, Tehran medical Sciences, Islamic Azad University, Tehran, Iran., Behroozi S; Pharmaceutical Sciences Research Center, Tehran medical Sciences, Islamic Azad University, Tehran, Iran., Tatarcheh T; Pharmaceutical Sciences Research Center, Tehran medical Sciences, Islamic Azad University, Tehran, Iran., Parvini F; Department of Biology, Faculty of Basic Sciences, Semnan University, Semnan, 35131-19111, Iran. f.parvini@semnan.ac.ir., Foroutan M; Department of Internal Medicine, Semnan University of Medical Sciences, Semnan, Iran., Fahimi H; Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, 1916893813, Iran. h.fahimi@iaups.ac.ir.

المصدر: BMC medical genetics [BMC Med Genet] 2019 Aug 29; Vol. 20 (1), pp. 147. Date of Electronic Publication: 2019 Aug 29.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Homozygote*, Contracture/*genetics , Genetic Predisposition to Disease/*genetics , Hearing Loss, Sensorineural/*genetics , Histiocytosis/*genetics , Nucleoside Transport Proteins/*genetics, Adult ; Base Sequence ; Connexin 26 ; Connexin 30/genetics ; Connexins/genetics ; Diabetes Mellitus, Type 1/genetics ; Exons ; Female ; Genetic Association Studies ; Humans ; Iran ; Male ; Middle Aged ; Pedigree

SCR Disease Name: Histiocytosis with joint contractures and sensorineural deafness

المؤلفون: Bagherian R; Pediatric Gastroenterology, Children Growth Research center, Qazvin University of Medical Sciences, Qazvin, Iran., Yousefipour F; National Institute of Genetic Engineering and Biotechnology, Tehran, Iran., Mousavi HS; Sana Medical Genetics Laboratory, Qazvin, Iran., Saffari F; Pediatric Endocrinology, Children Growth Research Center, Qazvin University of Medical Sciences, Qazvin, Iran., HajiShafieha E; Sana Medical Genetics Laboratory, Qazvin, Iran., Mohammadi SN; Sana Medical Genetics Laboratory, Qazvin, Iran., Mousakhani H; Pediatric Hematology and Oncology, Children Growth Research Center, Qazvin University of Medical Sciences, Qazvin, Iran., Fathi SM; Pediatric Clinical Immunology, Children Growth Research Center, Qazvin University of Medical Sciences, Qazvin, Iran., Mehrtash A; Ronash Medical Genetics Laboratory, Tehran, Iran., Verki FM; Sana Medical Genetics Laboratory, Qazvin, Iran., Lee D; The Hospital for Sick Children, University of Toronto, Canada., Heidari A; Sana Medical Genetics Laboratory, Qazvin, Iran; Refrence Laboratory of Qazvin Medical University, Qazvin, Iran. Electronic address: Lab_darman@qums.ac.ir.

المصدر: Current research in translational medicine [Curr Res Transl Med] 2019 May; Vol. 67 (2), pp. 72-75. Date of Electronic Publication: 2019 Feb 02.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier-Masson SAS Country of Publication: France NLM ID: 101681234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2452-3186 (Electronic) Linking ISSN: 24523186 NLM ISO Abbreviation: Curr Res Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation*, Abnormalities, Multiple/*genetics , Hyperpigmentation/*genetics , Hypertrichosis/*genetics , Nucleoside Transport Proteins/*genetics, Abnormalities, Multiple/pathology ; Child, Preschool ; Female ; Homozygote ; Humans ; Hyperpigmentation/complications ; Hyperpigmentation/pathology ; Hypertrichosis/complications ; Hypertrichosis/pathology ; Iran ; Mastocytosis, Cutaneous/complications ; Mastocytosis, Cutaneous/genetics ; Mastocytosis, Cutaneous/pathology ; Syndrome

المؤلفون: Nouri Z; Department of Research and Development, ERYTHROGEN Medical Genetics Lab, Isfahan, Iran; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Sarmadi A; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Narrei S; Department of Research and Development, ERYTHROGEN Medical Genetics Lab, Isfahan, Iran., Sehhati M; Department of Bioinformatics, School of Advanced Technologies in Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran; GenTArget Corp (GTaC), Deputy of Research and Technology, Isfahan University of Medical Sciences, Isfahan, Iran. Electronic address: tabatabaiefar@med.mui.ac.ir.

المصدر: Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Sep; Vol. 32 (9), pp. 776-784. Date of Electronic Publication: 2022 Jul 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

مواضيع طبية MeSH: Autistic Disorder* , Cardiomyopathies* , Muscular Dystrophies*/complications , Muscular Dystrophies*/congenital , Muscular Dystrophies*/genetics, Laminin/*genetics, Female ; Frameshift Mutation ; Humans ; Iran ; Exome Sequencing

SCR Disease Name: Muscular dystrophy congenital, merosin negative

المؤلفون: Moazzeni H; School of Biology, College of Science,University of Tehran, Tehran, Iran.; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Javadi MA; Ophthalmic Research Center, Shahid BeheshtiUniversity of Medical Sciences, Tehran, Iran., Asgari D; School of Biology, College of Science,University of Tehran, Tehran, Iran., Khani M; School of Biology, College of Science,University of Tehran, Tehran, Iran., Emami M; School of Biology, College of Science,University of Tehran, Tehran, Iran., Moghadam A; School of Biology, College of Science,University of Tehran, Tehran, Iran., Panahi-Bazaz MR; Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hosseini Tehrani M; Farabi Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran., Karimian F; Ophthalmic Research Center, Shahid BeheshtiUniversity of Medical Sciences, Tehran, Iran., Hosseini B; Central Eye Bank of Iran, Tehran, Iran., Nekuie Moghadam T; School of Biology, College of Science,University of Tehran, Tehran, Iran., Hassanpour H; School of Biology, College of Science,University of Tehran, Tehran, Iran., Akbari MT; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Elahi E; School of Biology, College of Science,University of Tehran, Tehran, Iran elaheelahi@ut.ac.ir.

المصدر: The British journal of ophthalmology [Br J Ophthalmol] 2020 Nov; Vol. 104 (11), pp. 1621-1628. Date of Electronic Publication: 2019 Aug 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2079 (Electronic) Linking ISSN: 00071161 NLM ISO Abbreviation: Br J Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Anion Transport Proteins/*genetics , Antiporters/*genetics , Corneal Dystrophies, Hereditary/*genetics , Fuchs' Endothelial Dystrophy/*genetics , Membrane Proteins/*genetics , Polymorphism, Single Nucleotide/*genetics, Codon, Nonsense/genetics ; Consanguinity ; Corneal Dystrophies, Hereditary/diagnosis ; DNA Mutational Analysis ; Exome/genetics ; Female ; Frameshift Mutation/genetics ; Fuchs' Endothelial Dystrophy/diagnosis ; Humans ; Introns/genetics ; Iran ; Male ; Mutation, Missense/genetics ; Pedigree

SCR Disease Name: Corneal endothelial dystrophy type 2

المؤلفون: Aryan H; National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.; Dr. Farhud's Genetics Clinic, Tehran, Iran., Razmara E; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Farhud D; Dr. Farhud's Genetics Clinic, Tehran, Iran.; School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.; Department of Basic Sciences, Iranian Academy of Medical Sciences, Tehran, Iran., Zarif-Yeganeh M; Dr. Farhud's Genetics Clinic, Tehran, Iran.; Cellular and Molecular Endocrine Research Center, Research Institute of Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Zokaei S; Dr. Farhud's Genetics Clinic, Tehran, Iran.; School of Advanced Medical Science, Islamic Azad University, Tehran, Iran., Hassani SA; Pediatric Intensive Care Medicine Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Ashrafi MR; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Tavasoli AR; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. a_tavasoli@sina.tums.ac.ir.

المصدر: BMC neurology [BMC Neurol] 2020 Aug 03; Vol. 20 (1), pp. 291. Date of Electronic Publication: 2020 Aug 03.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Cerebellar Ataxia/*genetics , Glycoside Hydrolases/*genetics , Neurodegenerative Diseases/*genetics , Seizures/*genetics, Cerebellar Diseases ; Child, Preschool ; Female ; Frameshift Mutation ; Homozygote ; Humans ; Iran ; Muscle Hypotonia/genetics ; Phenotype

المؤلفون: Mohseni M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Student Research Committee, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Akbari M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Booth KT; Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Babanejad M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Azaiez H; Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA., Ardalani F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Arzhangi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Jalalvand K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Nikzat N; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Ghodratpour F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Jamali P; Shahrood genetic counseling center, Welfare office, Semnan, Iran., Adeli OA; Department of Pathology, Medical University, Kordestan, Iran., Habibi H; Genetic Counseling Center, Hamadan University of Medical Science, Hamadan, Iran., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. hnajm12@yahoo.com.; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran. hnajm12@yahoo.com.

المصدر: Journal of human genetics [J Hum Genet] 2020 Jul; Vol. 65 (7), pp. 609-617. Date of Electronic Publication: 2020 Mar 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Hearing Loss/*genetics , Hearing Loss, Sensorineural/*genetics , Infertility, Male/*genetics , Protein Tyrosine Phosphatases/*genetics, Adolescent ; Adult ; Diagnosis, Differential ; Exons/genetics ; Female ; Frameshift Mutation/genetics ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Hearing Loss/complications ; Hearing Loss/diagnosis ; Hearing Loss/pathology ; Hearing Loss, Sensorineural/complications ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/pathology ; High-Throughput Nucleotide Sequencing ; Humans ; Infertility, Male/complications ; Infertility, Male/diagnosis ; Infertility, Male/pathology ; Iran ; Male ; Pedigree ; Young Adult

SCR Disease Name: Deafness, Autosomal Recessive 32

المؤلفون: Mojbafan M; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Shahid Hemmat Highway, Tehran, Iran.; Department of medical genetics, Ali-Asghar Children's Hospital, Zafar St., Shahid Modarres Highway, Tehran, Iran., Nojehdeh ST; Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41, Majlesi St., Valieasr Ave, Tehran, Iran., Rahiminejad F; Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41, Majlesi St., Valieasr Ave, Tehran, Iran., Nilipour Y; Pathology Department, Pediatric Pathology Research Center, Research Institute for Children Health, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Tonekaboni SH; Pediatric Neurology Center of Excellence, Department of Pediatric Neurology, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti Medical University, Tehran, Iran., Zeinali S; Medical Genetics Lab, Kawsar Human Genetics Research Center, No. 41, Majlesi St., Valieasr Ave, Tehran, Iran. zeinalipasteur@yahoo.com.; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, No. 69, Pasteur Ave, Tehran, Iran. zeinalipasteur@yahoo.com.

المصدر: BMC medical genetics [BMC Med Genet] 2020 Apr 15; Vol. 21 (1), pp. 77. Date of Electronic Publication: 2020 Apr 15.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Calcium-Binding Proteins/*genetics , Cation Transport Proteins/*genetics , Microsatellite Repeats/*genetics , Mitochondrial Membrane Transport Proteins/*genetics , Muscular Diseases/*genetics , Muscular Dystrophies, Limb-Girdle/*genetics, Child, Preschool ; Exome/genetics ; Exons/genetics ; Extrapyramidal Tracts/metabolism ; Extrapyramidal Tracts/pathology ; Female ; Frameshift Mutation/genetics ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Iran/epidemiology ; Muscular Diseases/pathology ; Muscular Dystrophies, Limb-Girdle/pathology ; Pedigree ; Sequence Deletion/genetics ; Exome Sequencing