المؤلفون: Di Fede E; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; 'Aldo Ravelli' Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, Milan, Italy., Lettieri A; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Taci E; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; 'Aldo Ravelli' Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, Milan, Italy., Castiglioni S; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Rebellato S; Tettamanti Center, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; School of Medicine and Surgery, University of Milano-Bicocca, Monza, 20900, Italy., Parodi C; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Colombo EA; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Grazioli P; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Natacci F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy., Marchisio P; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy.; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy., Pezzani L; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy., Fazio G; Tettamanti Center, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; School of Medicine and Surgery, University of Milano-Bicocca, Monza, 20900, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy., Massa V; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; 'Aldo Ravelli' Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, Milan, Italy., Gervasini C; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy. cristina.gervasini@unimi.it.; 'Aldo Ravelli' Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, Milan, Italy. cristina.gervasini@unimi.it.

المصدر: Human genetics [Hum Genet] 2024 Jun; Vol. 143 (6), pp. 747-759. Date of Electronic Publication: 2024 May 16.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Histone Deacetylase 2*/genetics , Histone Deacetylase 2*/metabolism , Exome Sequencing*, Humans ; Acetylation ; Rubinstein-Taybi Syndrome/genetics ; Rubinstein-Taybi Syndrome/pathology ; Chromatin/genetics ; Chromatin/metabolism ; Male ; Female ; Mutation ; Frameshift Mutation ; Cell Line

المؤلفون: Rodriguez Mier N; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium. noelia.rodriguezmier@uzleuven.be., Jaspers M; Department of Neurosciences, Research Group Experimental Oto-Rhino-Laryngology, KU Leuven, Leuven, Belgium., Van Hoof E; Center for Human Genetics, University Hospital of Leuven, Leuven, Belgium., Jorissen M; Department of Neurosciences, Research Group Experimental Oto-Rhino-Laryngology, KU Leuven, Leuven, Belgium.; Department of Otorhinolaryngology, University Hospital of Leuven, Leuven, Belgium., Lorent N; Department of Pulmonology, University Hospital of Leuven, Leuven, Belgium., Proesmans M; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium., Vermeulen F; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium., Breckpot J; Center for Human Genetics, University Hospital of Leuven, Leuven, Belgium., Boon M; Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000, Leuven, Belgium.

المصدر: Lung [Lung] 2024 Jun; Vol. 202 (3), pp. 291-298. Date of Electronic Publication: 2024 Apr 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: United States NLM ID: 7701875 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1750 (Electronic) Linking ISSN: 03412040 NLM ISO Abbreviation: Lung Subsets: MEDLINE

مواضيع طبية MeSH: Axonemal Dyneins*/genetics, Humans ; Male ; Female ; Adult ; Retrospective Studies ; Belgium/epidemiology ; Child ; Adolescent ; Child, Preschool ; Young Adult ; Dyneins/genetics ; Middle Aged ; Kartagener Syndrome/genetics ; Kartagener Syndrome/diagnosis ; Kartagener Syndrome/physiopathology ; Genetic Association Studies ; Phenotype ; Infant ; Situs Inversus/genetics ; Situs Inversus/diagnostic imaging ; Cilia/pathology ; Cilia/ultrastructure ; Mutation, Missense ; Frameshift Mutation

المؤلفون: Kavitha B; Department of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Centre for Advanced Research On Diabetes, Affiliated to University of Madras, #4, Conran Smith Road, Gopalapuram, Chennai, 600 086, India., Srikanth K; Andhra Medical College, Visakhapatnam, Andhra Pradesh, India., Singh D; Department of Biochemistry, Indian Institute of Science, Bangalore, 560012, India., Gopi S; Department of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Centre for Advanced Research On Diabetes, Affiliated to University of Madras, #4, Conran Smith Road, Gopalapuram, Chennai, 600 086, India., Mohan V; Department of Diabetology, Madras Diabetes Research Foundation, Chennai and Dr. Mohan's Diabetes Specialties Centre, IDF Centre of Education, Chennai, India., Chandra N; Department of Biochemistry, Indian Institute of Science, Bangalore, 560012, India., Radha V; Department of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Centre for Advanced Research On Diabetes, Affiliated to University of Madras, #4, Conran Smith Road, Gopalapuram, Chennai, 600 086, India. radharv@yahoo.co.in.

المصدر: Acta diabetologica [Acta Diabetol] 2024 Feb; Vol. 61 (2), pp. 189-194. Date of Electronic Publication: 2023 Oct 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9200299 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-5233 (Electronic) Linking ISSN: 09405429 NLM ISO Abbreviation: Acta Diabetol Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus*/genetics , Infant, Newborn, Diseases*/genetics, Infant, Newborn ; Infant ; Humans ; Transcription Factors/genetics ; Mutation ; Frameshift Mutation ; DNA

المؤلفون: Liu XD; Department of Hematology, Zigong First People's Hospital, Zigong, China., Yang K; Department of Hematology, Zigong First People's Hospital, Zigong, China. 1759874951@qq.com., Xiao J; Department of Hematology, Zigong First People's Hospital, Zigong, China., Huang H; Department of Hematology, Zigong First People's Hospital, Zigong, China., Zhang XD; Department of Laboratory Medicine, Zigong First People's Hospital, Zigong, China., Huang JY; Department of Laboratory Medicine, Zigong First People's Hospital, Zigong, China.

المصدر: Annals of hematology [Ann Hematol] 2022 Oct; Vol. 101 (10), pp. 2355-2357. Date of Electronic Publication: 2022 Jun 21.

نوع المنشور: Letter

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Spherocytosis, Hereditary*/genetics, Asian People/genetics ; China ; Humans ; Mutation ; Pedigree ; Spectrin/genetics ; Exome Sequencing

المؤلفون: Shen Q; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China., Martinez G; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France., Liu H; Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China., Beurois J; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France., Wu H; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China., Amiri-Yekta A; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran., Liang D; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China., Kherraf ZE; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, 38000, Grenoble, France., Bidart M; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; Unité Médicale de Génétique Moléculaire: Maladies Héréditaires et Oncologie, Pôle Biologie, Institut de Biologie et de Pathologie, CHU Grenoble Alpes, 38000, Grenoble, France., Cazin C; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France., Celse T; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France., Satre V; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France., Thierry-Mieg N; Université Grenoble Alpes, CNRS UMR 5525, TIMC-IMAG/BCM, 38000, Grenoble, France., Whitfield M; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France., Touré A; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France., Song B; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China., Lv M; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China., Li K; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China., Liu C; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, 200011, China.; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China., Tao F; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China., He X; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China., Zhang F; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, 200011, China.; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China., Arnoult C; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France., Ray PF; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, 38000, Grenoble, France., Cao Y; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. caoyunxia6@126.com.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China. caoyunxia6@126.com.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China. caoyunxia6@126.com., Coutton C; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France. ccoutton@chu-grenoble.fr.; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France. ccoutton@chu-grenoble.fr.; Laboratoire de Génétique Chromosomique, Hôpital Couple-Enfant, CHU de Grenoble, 38043, Grenoble, France. ccoutton@chu-grenoble.fr.

المصدر: Human genetics [Hum Genet] 2021 Sep; Vol. 140 (9), pp. 1367-1377. Date of Electronic Publication: 2021 Jul 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Cytoskeletal Proteins*/genetics , Cytoskeletal Proteins*/metabolism , Frameshift Mutation* , Homozygote* , Infertility, Male*/genetics , Infertility, Male*/metabolism, Sperm Tail/*metabolism, Animals ; Calcium-Binding Proteins/genetics ; Calcium-Binding Proteins/metabolism ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Humans ; Male ; Mice

المؤلفون: Ervilha Pereira P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Schuermans N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Meylemans A; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., LeBlanc P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Versluys L; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Copley KE; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.; Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Rubien JD; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Altheimer C; Department of Neurology, University of Michigan, Ann Arbor, MI, 48109, USA., Peetermans M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Debackere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Vanakker O; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Baets J; Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Antwerp, Belgium.; Faculty of Medicine and Health Sciences, Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Verhoeven K; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Neurology, Sint-Jan Hospital Bruges, Brugge, Belgium., Lammens M; Department of Pathology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., De Paepe B; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Barmada SJ; Department of Neurology, University of Michigan, Ann Arbor, MI, 48109, USA., Shorter J; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.; Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., De Bleecker JL; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Bogaert E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. elke.bogaert@ugent.be.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium. elke.bogaert@ugent.be., Dermaut B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bart.dermaut@ugent.be.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium. bart.dermaut@ugent.be.

المصدر: Acta neuropathologica [Acta Neuropathol] 2023 Jun; Vol. 145 (6), pp. 793-814. Date of Electronic Publication: 2023 Mar 31.

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

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/pathology , Frontotemporal Dementia*/genetics , Frontotemporal Dementia*/pathology , Pick Disease of the Brain*, Animals ; Rats ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Frameshift Mutation ; Mutation ; Humans

SCR Disease Name: Distal myopathy, Nonaka type

المؤلفون: Tripathi P; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, 226014, India., Agarwal S; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, 226014, India. saritasgpgi@gmail.com., Gupta A; Department of Hematology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, 226014, India., Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, 226014, India.

المصدر: Annals of hematology [Ann Hematol] 2020 Nov; Vol. 99 (11), pp. 2719-2722. Date of Electronic Publication: 2020 Apr 15.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Sequence Deletion*, Codon, Nonsense/*genetics , beta-Globins/*genetics , beta-Thalassemia/*genetics, Base Sequence ; Chromatography, High Pressure Liquid ; Female ; Homozygote ; Humans ; India ; Infant ; Pedigree ; beta-Thalassemia/epidemiology

المؤلفون: Cesana M; Armenise/Harvard Laboratory of Integrative Genomics, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy. m.cesana@tigem.it.; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy. m.cesana@tigem.it., Vaccaro L; Armenise/Harvard Laboratory of Integrative Genomics, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Larsen MJ; Department of Clinical Research, Faculty of Health Sciences, Clinical Genome Center and Human Genetics, University of Southern Denmark, Odense, Denmark.; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark., Micale L; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Riccardo S; Next Generation Diagnostic srl, Pozzuoli, 80078, Naples, Italy., Annunziata P; Next Generation Diagnostic srl, Pozzuoli, 80078, Naples, Italy., Colantuono C; Next Generation Diagnostic srl, Pozzuoli, 80078, Naples, Italy., Di Filippo L; Next Generation Diagnostic srl, Pozzuoli, 80078, Naples, Italy., De Brasi D; Department of Pediatrics, AORN Santobono-Pausilipon, 80122, Naples, Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Fagerberg C; Department of Clinical Research, Faculty of Health Sciences, Clinical Genome Center and Human Genetics, University of Southern Denmark, Odense, Denmark. christina.fagerberg@rsyd.dk.; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. christina.fagerberg@rsyd.dk., Acquaviva F; Department of Pediatrics, AORN Santobono-Pausilipon, 80122, Naples, Italy. f.acquaviva@santobonopausilipon.it., Cacchiarelli D; Armenise/Harvard Laboratory of Integrative Genomics, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy. d.cacchiarelli@tigem.it.; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy. d.cacchiarelli@tigem.it.; SSM School for Advanced Studies, University of Naples 'Federico II', Naples, Italy. d.cacchiarelli@tigem.it.

المصدر: Human genetics [Hum Genet] 2023 Mar; Vol. 142 (3), pp. 343-350. Date of Electronic Publication: 2022 Dec 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Intracellular Signaling Peptides and Proteins*/genetics , Neurodevelopmental Disorders*/genetics , Protein Serine-Threonine Kinases*/genetics, Humans ; Exome ; Frameshift Mutation ; Gene Expression Profiling

المؤلفون: Okubo M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.; Department of Pediatrics, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Noguchi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan. noguchi@ncnp.go.jp., Hayashi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan., Nakamura H; Department of Promoting Clinical Trial and Translational Medicine, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan., Komaki H; Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan., Matsuo M; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Hyogo, Japan., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.

المصدر: Human genetics [Hum Genet] 2020 Feb; Vol. 139 (2), pp. 247-255. Date of Electronic Publication: 2020 Jan 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Codon, Nonsense* , Frameshift Mutation*, Dystrophin/*genetics , Exons/*genetics , Muscular Dystrophy, Duchenne/*genetics, Adolescent ; Adult ; Child ; Cohort Studies ; Female ; Humans ; Male ; Middle Aged ; Young Adult

المؤلفون: Meng LL; Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University, Changsha, 410078, Hunan, People's Republic of China.; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410078, Hunan, People's Republic of China., Yuan SM; Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University, Changsha, 410078, Hunan, People's Republic of China.; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410078, Hunan, People's Republic of China., Tu CF; Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University, Changsha, 410078, Hunan, People's Republic of China.; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410078, Hunan, People's Republic of China., Lin G; Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University, Changsha, 410078, Hunan, People's Republic of China.; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410078, Hunan, People's Republic of China., Lu GX; Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University, Changsha, 410078, Hunan, People's Republic of China.; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410078, Hunan, People's Republic of China., Tan YQ; Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University, Changsha, 410078, Hunan, People's Republic of China. tanyueqiu@csu.edu.cn.; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410078, Hunan, People's Republic of China. tanyueqiu@csu.edu.cn.

المصدر: Annals of hematology [Ann Hematol] 2019 Jan; Vol. 98 (1), pp. 223-226. Date of Electronic Publication: 2018 Jul 01.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , High-Throughput Nucleotide Sequencing* , Mutagenesis, Insertional*, Spectrin/*genetics , Spherocytosis, Hereditary/*genetics, Adult ; Child ; China ; Female ; Humans