المؤلفون: Wang S; Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Jiang Q; Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Zheng X; Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Wei Q; Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Lin J; Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Yang T; Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Xiao Y; Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China., Li C; Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China hfshang2002@126.com lichunyu.scu@qq.com., Shang H; Department of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China hfshang2002@126.com lichunyu.scu@qq.com.

المصدر: Journal of medical genetics [J Med Genet] 2024 Sep 24; Vol. 61 (10), pp. 966-972. Date of Electronic Publication: 2024 Sep 24.

نوع المنشور: Journal Article; Meta-Analysis

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Amyotrophic Lateral Sclerosis*/genetics , Amyotrophic Lateral Sclerosis*/pathology , Amyotrophic Lateral Sclerosis*/epidemiology , Sequestosome-1 Protein*/genetics , Genetic Association Studies*, Humans ; Female ; Male ; Middle Aged ; Gene Frequency ; Genetic Predisposition to Disease ; Mutation ; Aged ; Adult ; Phenotype ; Frontotemporal Dementia/genetics ; Frontotemporal Dementia/pathology ; Genotype

المؤلفون: Wolach B; Division of Pediatrics, Pediatric Hematology Clinic, Kfar Saba, Israel.; Hemato-Immunology Laboratory, Meir Medical Center, Kfar Saba, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Gavrieli R; Division of Pediatrics, Pediatric Hematology Clinic, Kfar Saba, Israel.; Hemato-Immunology Laboratory, Meir Medical Center, Kfar Saba, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Wolach O; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Institute of Hematology, Davidoff Cancer Center, Rabin Medical Center, Petah Tikva, Israel., Salamon P; The Herbert Mast Cell Disorders Center, Laboratory of Allergy and Clinical Immunology, Meir Medical Center, Kfar Saba, Israel., de Boer M; Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., van Leeuwen K; Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Abuzaitoun O; Ambulatory Pediatrics Clinic, Nablus, Palestinian Authority., Broides A; Immunology Clinic, Soroka Medical Center, Beer Sheva, Israel.; Faculty of Health Sciences, Joyce and Irving Goldman Medical School, Ben Gurion University of the Negev, Beer Sheva, Israel., Gottesman G; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Infectious Disease Unit, Division of Pediatrics, Meir Medical Center, Kfar Saba, Israel., Grisaru-Soen G; Hemato-Immunology Laboratory, Meir Medical Center, Kfar Saba, Israel.; Pediatric Infectious Diseases Unit, Dana-Dwek Children's Hospital, Sourasky Medical Center, Tel Aviv, Israel., Hagin D; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Allergy and Clinical Immunology Unit, Department of Medicine, Sourasky Medical Center, Tel Aviv, Israel., Marcus N; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Allergy and Immunology Unit, Schneider Children's Medical Center, Petah Tikva, Israel., Rottem M; Allergy Asthma and Immunology Service, Emek Medical Center, Afula, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Schlesinger Y; Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel., Stauber T; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel., Stepensky P; Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah Medical Center, Jerusalem, Israel., Dinur-Schejter Y; Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah Medical Center, Jerusalem, Israel.; Allergy and Clinical Immunology Unit and The Bone Marrow Transplantation and Cancer Immunotherapy Department, Hadassah Ein Kerem Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Zeeli T; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Dermatology, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Hanna S; Ruth Children's Hospital and Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Etzioni A; Ruth Children's Hospital and Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Frizinsky S; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Israel., Somech R; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Israel., Roos D; Sanquin Research, and Landsteiner Laboratory, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Lachover-Roth I; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Allergy and Clinical Immunology Unit, Meir Medical Center, Kfar Saba, Israel.

المصدر: Blood [Blood] 2024 Sep 19; Vol. 144 (12), pp. 1300-1313.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

مواضيع طبية MeSH: Granulomatous Disease, Chronic*/genetics , Granulomatous Disease, Chronic*/therapy , Genetic Association Studies* , Mutation*, Humans ; Male ; Female ; Child ; Child, Preschool ; Infant ; Adolescent ; Cohort Studies ; Adult ; Young Adult ; Neutrophils/pathology ; Neutrophils/metabolism ; Neutrophils/immunology ; NADPH Oxidases/genetics ; Israel/epidemiology ; Hematopoietic Stem Cell Transplantation

المؤلفون: Iruzubieta P; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom; Department of Neurology, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain; CIBERNED, Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), 28029, Madrid, Spain., Alves CAPF; Neuroradiology Division, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA., Al Shamsi AM; Genetic Division, Paediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates., ElGhazali G; Sheikh Khalifa Medical City, Purelab, Purehealth, Abu Dhabi, United Arab Emirates; College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, El-Tahrir Street, Dokki, Cairo, Egypt., Pinelli L; Neuroradiology Unit, Pediatric Neuroradiology Section, ASST SpedaliCivili, Brescia, Italy., Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Cho BPH; Department of Clinical Neurosciences, University of Cambridge, United Kingdom., Jolly AA; Department of Clinical Neurosciences, University of Cambridge, United Kingdom., Al Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Oman., Al-Amrani F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Oman., Galli J; Child Neurology and Psychiatry Unit, ASST SpedaliCivili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Fazzi E; Child Neurology and Psychiatry Unit, ASST SpedaliCivili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Vulin K; Department of Medical and Laboratory Genetics, ERN-Ithaca Zagreb Center, Children's Hospital Zagreb, Zagreb, Croatia; Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia., Barajas-Olmos F; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, CDMX, Mexico., Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany., Aljamal BM; Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia., Nasr V; Department of Neurology - Kermanshah Imam Reza (AS) Hospital Complex, Kermanshah University of Medical Sciences, Kermanshah, Iran., Assarzadegan F; Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences(SBUMS), Tehran, Iran., Ragno M; Pianeta Salute, Viale Assisi, 88, 63084, Villa Pigna, Ascoli Piceno, Italy., Trojano L; Department of Psychology, University of Campania 'Luigi Vanvitelli', Viale Ellittico 31, 81100, Caserta, Italy., Ojeda NM; Rady Children's Institute for Genomic Medicine, University of California, San Diego, La Jolla, USA., Çakar A; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093, Istanbul, Turkey., Bianchi S; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Pescini F; Department of Emergency, Stroke Unit, Careggi University Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy., Poggesi A; Department of Emergency, Stroke Unit, Careggi University Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy., Al Tenalji A; Sheikh Khalifa Medical City, Purelab, Purehealth, Abu Dhabi, United Arab Emirates., Aziz M; Sheikh Khalifa Medical City, Department of Pediatric Neurology, Abu Dhabi, United Arab Emirates., Mohammad R; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom., Chedrawi A; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., De Stefano N; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany., Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Koc F; Department of Neurology, Faculty of Medicine, Cukurova University, Adana, Turkey., Griffiths LR; Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, 60 Musk Ave, Kelvin Grove, QLD, 4059, Australia., Orozco L; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, CDMX, Mexico., Helmes KG; Department of Genetics, General Hospital - Dr. Aurelio Valdivieso, Oaxaca de Juárez, Oaxaca, Mexico., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany., Chan Jeong W; 3billion, Seoul, South Korea., Karimiani EG; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom., Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Mathildenstrasse 1, 79106, Freiburg, Germany; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Gleeson JG; Rady Children's Institute for Genomic Medicine, University of California, San Diego, La Jolla, USA., Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, USA., Alkuraya FS; Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia., Shalbafan B; Cellular and Molecular Endocrine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Markus HS; Department of Clinical Neurosciences, University of Cambridge, United Kingdom., Houlden H; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom., Maroofian R; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.

المصدر: EBioMedicine [EBioMedicine] 2024 Sep; Vol. 107, pp. 105297. Date of Electronic Publication: 2024 Aug 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

مواضيع طبية MeSH: Receptor, Notch3*/genetics , Alleles* , Genetic Association Studies* , Magnetic Resonance Imaging*, Humans ; Female ; Male ; Adult ; Middle Aged ; CADASIL/genetics ; CADASIL/diagnostic imaging ; CADASIL/pathology ; Phenotype ; Aged ; Mutation, Missense ; Genetic Predisposition to Disease ; Young Adult ; Brain/diagnostic imaging ; Brain/pathology ; Adolescent

المؤلفون: Camelo CG; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Moreno CAM; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Artilheiro MDC; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Fonseca ATQM; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Gurgel Gianetti J; Department of Pediatrics, Faculty of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Barbosa AV; Department of Pediatric Neurology, Fundação Hospitalar do Estado de Minas Gerais, Belo Horizonte, Brazil., Donis KC; Medical Genetics Division and Neurology Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Saute JAM; Medical Genetics Division and Neurology Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Pessoa A; Children's Hospital Albert Sabin, Fortaleza, Brazil., Van der Linden H Jr; Rehabilitation Center Dr. Henrique Santillo, Goiânia, Brazil.; Neurology Institute of Goiânia, Goiânia, Brazil., Gonçalves ARA; Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Universitário de Santo António (CHUdSA), Porto, Portugal.; UMIB-Unit for Multidisciplinary Research in Biomedicine, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal., Kulikowski LD; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Kok F; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil., Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.

المصدر: Clinical genetics [Clin Genet] 2024 Sep; Vol. 106 (3), pp. 305-314. Date of Electronic Publication: 2024 May 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Laminin*/genetics , Genetic Association Studies*, Humans ; Male ; Brazil/epidemiology ; Female ; Child ; Child, Preschool ; Adolescent ; Adult ; Genetic Profile ; Phenotype ; Retrospective Studies ; Muscular Dystrophies/genetics ; Mutation ; Young Adult ; Genetic Predisposition to Disease ; Infant ; Genotype ; Middle Aged

المؤلفون: Aliyeva L; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey; Department of Medical Genetics, Atakent Hospital, Acibadem Health Group, Istanbul, Türkiye., Ongen YD; Department of Pediatric Endocrinology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey., Eren E; Department of Pediatric Endocrinology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey., Sarisozen MB; Department of Orthopaedics and Traumatology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey., Alemdar A; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Bursa, Türkiye., Temel SG; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey; Department of Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Bursa, Türkiye. Electronic address: sehime@uludag.edu.tr., Sag SO; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey. Electronic address: ozemri@uludag.edu.tr.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Sep; Vol. 26 (9), pp. 754-769. Date of Electronic Publication: 2024 Jul 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Osteogenesis Imperfecta*/genetics , Osteogenesis Imperfecta*/diagnosis , Genetic Association Studies*/methods , High-Throughput Nucleotide Sequencing*/methods , Phenotype*, Humans ; Female ; Male ; Child ; Adult ; Child, Preschool ; Adolescent ; Collagen Type I, alpha 1 Chain ; Infant ; Collagen Type I/genetics ; Genotype ; Mutation ; Young Adult ; Middle Aged ; Tacrolimus Binding Proteins/genetics ; Membrane Glycoproteins/genetics ; Membrane Proteins ; HSP47 Heat-Shock Proteins

المؤلفون: So JY; Department of Dermatology, Stanford University School of Medicine, Stanford, California., Nazaroff J; Department of Dermatology, Stanford University School of Medicine, Stanford, California., Yenamandra VK; CSIR-Institute of Genomics & Integrative Biology, Academy of Scientific and Innovative Research, New Delhi, India., Gorell ES; Division of Dermatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Harris N; Department of Dermatology, Stanford University School of Medicine, Stanford, California., Fulchand S; Department of Dermatology, Stanford University School of Medicine, Stanford, California., Eid E; Department of Dermatology, Stanford University School of Medicine, Stanford, California., Dolorito JA; Department of Dermatology, Stanford University School of Medicine, Stanford, California., Marinkovich MP; Department of Dermatology, Stanford University School of Medicine, Stanford, California; Dermatology Service, Veterans Affairs Palo Alto Medical Center, Palo Alto, California., Tang JY; Department of Dermatology, Stanford University School of Medicine, Stanford, California. Electronic address: tangy@stanford.edu.

المصدر: Journal of the American Academy of Dermatology [J Am Acad Dermatol] 2024 Sep; Vol. 91 (3), pp. 448-456. Date of Electronic Publication: 2024 May 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 7907132 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6787 (Electronic) Linking ISSN: 01909622 NLM ISO Abbreviation: J Am Acad Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Epidermolysis Bullosa Dystrophica*/genetics , Epidermolysis Bullosa Dystrophica*/pathology , Collagen Type VII*/genetics , Genetic Association Studies*, Humans ; Male ; Female ; Adult ; Child ; Adolescent ; Young Adult ; Middle Aged ; Child, Preschool ; Phenotype ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology ; Carcinoma, Squamous Cell/genetics ; Carcinoma, Squamous Cell/pathology ; Genotype ; Severity of Illness Index ; Genes, Recessive

المؤلفون: Peters S; University of Rochester School of Medicine and Dentistry, Rochester, New York. Electronic address: Sydney_peters@urmc.rochester.edu., Sportiello K; University of Rochester School of Medicine and Dentistry, Rochester, New York., Mandalapu S; University of Rochester School of Arts and Sciences, Rochester, New York., Nguyen A; Roberts Wesleyan University, Doctor of School/Clinical Psychology Program, Rochester, New York., Carrier R; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York., Dickinson C; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York., Paciorkowski A; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York., Bearden D; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York.

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Sep; Vol. 158, pp. 100-112. Date of Electronic Publication: 2024 Jun 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, Humans ; Male ; Female ; Child ; Child, Preschool ; Rare Diseases/genetics ; Adolescent ; Sex Characteristics ; Infant ; Adult ; Prospective Studies ; Young Adult ; Phenotype ; Nuclear Proteins ; Intracellular Signaling Peptides and Proteins

المؤلفون: Reis LM; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address: lreis@mcw.edu., Seese SE; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address: sseese@mcw.edu., Costakos D; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address: dcostakos@mcw.edu., Semina EV; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. Electronic address: esemina@mcw.edu.

المصدر: Progress in retinal and eye research [Prog Retin Eye Res] 2024 Sep; Vol. 102, pp. 101288. Date of Electronic Publication: 2024 Aug 02.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Pergamon Country of Publication: England NLM ID: 9431859 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-1635 (Electronic) Linking ISSN: 13509462 NLM ISO Abbreviation: Prog Retin Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Anterior Eye Segment*/abnormalities , Genetic Association Studies* , Eye Abnormalities*/genetics , Eye Abnormalities*/physiopathology, Humans ; Phenotype ; Eye Diseases, Hereditary/genetics ; Eye Diseases, Hereditary/diagnosis ; Eye Diseases, Hereditary/physiopathology

المؤلفون: Saxton S; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Kontorovich AR; Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1014, New York, NY, 10029., Wang D; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Zhou B; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Um SY; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Lin Y; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Rojas L; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Tyll E; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Dickinson G; Department of Forensic Pathology, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Stram M; Department of Forensic Pathology, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Harris CK; Department of Forensic Pathology, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Gelb BD; Mindich Child Health and Development Institute, Department of Pediatrics, and Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1014, New York, NY, 10029., Sampson BA; Department of Forensic Pathology, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Graham JK; Department of Forensic Pathology, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016., Tang Y; Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, 421 East 26th Street, New York, NY, 10016. Electronic address: ytang@ocme.nyc.gov.

المصدر: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology [Cardiovasc Pathol] 2024 Sep-Oct; Vol. 72, pp. 107654. Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Pub. Co Country of Publication: United States NLM ID: 9212060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1336 (Electronic) Linking ISSN: 10548807 NLM ISO Abbreviation: Cardiovasc Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing* , Phenotype* , Cardiomyopathies*/genetics , Cardiomyopathies*/pathology , Genetic Predisposition to Disease* , Autopsy* , Genetic Association Studies* , Arrhythmias, Cardiac*/genetics , Arrhythmias, Cardiac*/diagnosis, Humans ; Middle Aged ; Female ; Male ; Adult ; Adolescent ; Child ; Aged ; Young Adult ; Infant ; Child, Preschool ; Aged, 80 and over ; Infant, Newborn ; Predictive Value of Tests ; Cause of Death ; United States/epidemiology ; Retrospective Studies

المؤلفون: Song W; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China., Bian WJ; Department of Neurology, Guangdong Second Provincial General Hospital, Guangzhou, Guangdong, China., Li H; Department of Neurology, The Guangdong 999 Brain Hospital, Guangzhou, Guangdong, China., Guo QH; Department of Pediatrics, The Second Hospital of Shandong University, Jinan, Shandong, China., Wang J; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China., Tang B; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China., Zhang JY; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China., Wei W; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China., Liu XR; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China., Liao WP; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China., Li B; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China henachilli@163.com lcmlibin@163.com., He N; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China henachilli@163.com lcmlibin@163.com.

المصدر: Journal of medical genetics [J Med Genet] 2024 Aug 29; Vol. 61 (9), pp. 895-903. Date of Electronic Publication: 2024 Aug 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Seizures, Febrile*/genetics , Epilepsy, Generalized*/genetics , Interferon-Induced Helicase, IFIH1*/genetics , Mutation, Missense*/genetics , Genetic Association Studies* , Exome Sequencing*, Humans ; Male ; Female ; Child, Preschool ; Infant ; Child ; Genetic Predisposition to Disease ; Adult ; Phenotype