المؤلفون: Xiao B; Department of Pediatric Endocrinology and Genetic Metabolism, Science and Education Building, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Room 801, No.1665, Kong Jiang Road, Shanghai, 200092, China., Luo X; Department of Pediatric Endocrinology and Genetic Metabolism, Science and Education Building, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Room 801, No.1665, Kong Jiang Road, Shanghai, 200092, China., Liu Y; Department of Pediatric Endocrinology and Genetic Metabolism, Science and Education Building, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Room 801, No.1665, Kong Jiang Road, Shanghai, 200092, China., Ye H; Department of Pediatric Endocrinology and Genetic Metabolism, Science and Education Building, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Room 801, No.1665, Kong Jiang Road, Shanghai, 200092, China., Liu H; Department of Pediatric Endocrinology and Genetic Metabolism, Science and Education Building, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Room 801, No.1665, Kong Jiang Road, Shanghai, 200092, China., Fan Y; Department of Pediatric Endocrinology and Genetic Metabolism, Science and Education Building, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Room 801, No.1665, Kong Jiang Road, Shanghai, 200092, China. fanyanjie@shsmu.edu.cn., Yu Y; Department of Pediatric Endocrinology and Genetic Metabolism, Science and Education Building, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Room 801, No.1665, Kong Jiang Road, Shanghai, 200092, China. yuyongguo@shsmu.edu.cn.

المصدر: Genome medicine [Genome Med] 2024 Sep 19; Vol. 16 (1), pp. 113. Date of Electronic Publication: 2024 Sep 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/diagnosis , RNA-Seq* , Chromosome Mapping*, Humans ; Male ; Female ; Child ; Exome Sequencing ; Genomic Structural Variation ; Child, Preschool

المؤلفون: Tartaglione AM; Centre for Behavioural Sciences and Mental Health, Istituto Superiore di Sanità, Rome, Italy. Electronic address: annamaria.tartaglione@iss.it., Camoni L; Centre for Behavioural Sciences and Mental Health, Istituto Superiore di Sanità, Rome, Italy., Calamandrei G; Centre for Behavioural Sciences and Mental Health, Istituto Superiore di Sanità, Rome, Italy., Chiarotti F; Centre for Behavioural Sciences and Mental Health, Istituto Superiore di Sanità, Rome, Italy., Venerosi A; Centre for Behavioural Sciences and Mental Health, Istituto Superiore di Sanità, Rome, Italy.

المصدر: Neuroscience and biobehavioral reviews [Neurosci Biobehav Rev] 2024 Sep; Vol. 164, pp. 105815. Date of Electronic Publication: 2024 Jul 23.

نوع المنشور: Systematic Review; Journal Article; Meta-Analysis; Review

بيانات الدورية: Publisher: Pergamon Press Country of Publication: United States NLM ID: 7806090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7528 (Electronic) Linking ISSN: 01497634 NLM ISO Abbreviation: Neurosci Biobehav Rev Subsets: MEDLINE

مواضيع طبية MeSH: Environmental Pollutants*/adverse effects , Environmental Pollutants*/toxicity , Neurodevelopmental Disorders*/chemically induced , Neurodevelopmental Disorders*/epidemiology , Neurodevelopmental Disorders*/etiology, Humans ; Case-Control Studies ; Prenatal Exposure Delayed Effects/chemically induced ; Autism Spectrum Disorder/chemically induced ; Autism Spectrum Disorder/epidemiology ; Autism Spectrum Disorder/etiology ; Environmental Exposure/adverse effects ; Pregnancy ; Autistic Disorder/chemically induced ; Autistic Disorder/epidemiology ; Autistic Disorder/etiology ; Female

المؤلفون: Dellenmark-Blom M; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Järvholm K; Department of Psychology, Lund University, Lund, Sweden.; Childhood Obesity Unit, Skåne University Hospital, Malmö, Sweden.; Region Västra Götaland, Regional Obesity Center, Sahlgrenska University Hospital, Gothenburg, Sweden., Sjögren L; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Region Västra Götaland, Regional Obesity Center, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Pediatrics, Halland Hospital Halmstad, Halmstad, Sweden., Levinsson A; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; School of Public Health and Community Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Research Centre of the University of Montreal University Hospital, Montreal, Canada., Dahlgren J; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Region Västra Götaland, Regional Obesity Center, Sahlgrenska University Hospital, Gothenburg, Sweden.

المصدر: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2024 Sep; Vol. 113 (9), pp. 2107-2118. Date of Electronic Publication: 2024 May 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1651-2227 (Electronic) Linking ISSN: 08035253 NLM ISO Abbreviation: Acta Paediatr Subsets: MEDLINE

مواضيع طبية MeSH: Pediatric Obesity*/psychology , Pediatric Obesity*/complications , Neurodevelopmental Disorders*/diagnosis , Neurodevelopmental Disorders*/etiology, Humans ; Child ; Female ; Male ; Cognition ; Attention Deficit Disorder with Hyperactivity/diagnosis ; Sweden ; Child, Preschool ; Adolescent

المؤلفون: Garey JD; Reproductive Toxicology Center, A Non-Profit Foundation, Washington, DC, USA., Damkier P; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Department of Clinical Pharmacology, Odense University Hospital, Odense, Denmark., Scialli AR; Reproductive Toxicology Center, A Non-Profit Foundation, Washington, DC, USA., Lusskin S; Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri, USA., Braddock SR; Regional Center of Pharmacovigilance, Department of Pharmacology, Cochin Port Royal Hospital, APHP, Paris, France., Chouchana L; The Rotunda Hospital, Dublin, Ireland., Cleary B; School of Pharmacy and Biomedical Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.; Department of Psychiatry and Obstetrics, Gynecology, and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Conover EA; Division of Clinical Genetics, Munroe Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA., Diav-Citrin O; The Israeli Teratology Information Service, Ministry of Health, Jerusalem, Israel.; The Hebrew University Hadassah Medical School, Jerusalem, Israel., Dragovich RS; Department of Internal Medicine, Northeast Ohio Medical University, Rootstown, Ohio, USA., Garcia-Bournissen F; Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Hodson K; UK Teratology Information Service, Newcastle upon Tyne, UK., Kennedy D; Royal Hospital for Women, Randwick, New South Wales, Australia., Lamm SH; Center for Epidemiology and Maternal-Child Health (CEOH), Washington, DC, USA., Lavigne SA; MotherToBaby Connecticut, Division of Medical Genetics, UConn Health, Farmington, Connecticut, USA., Običan SG; Department of Obstetrics and Gynecology, Morsani College of Medicine, University of South Florida, Tampa, Florida, USA., Panchaud A; Institute of Primary Health Care (BIHAM), University of Bern, Bern, Switzerland.; Service of Pharmacy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Perrotta K; Department of Pediatrics, University of California, San Diego, La Jolla, California, USA., Romeo AN; MotherToBaby Utah, Utah Department of Health, Salt Lake City, Utah, USA., Shechtman S; The Israeli Teratology Information Service, Ministry of Health, Jerusalem, Israel., Weber-Schoendorfer C; Charité - Universitätsmedizin Berlin, Pharmakovigilanzzentrum Embryonaltoxikologie, Institut für Klinische Pharmakologie und Toxikologie, Berlin, Germany.

المصدر: Birth defects research [Birth Defects Res] 2024 Aug; Vol. 116 (8), pp. e2392.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

مواضيع طبية MeSH: Valproic Acid*/adverse effects , Neurodevelopmental Disorders*/prevention & control , Neurodevelopmental Disorders*/chemically induced, Humans ; Male ; Child ; Epilepsy/drug therapy ; United Kingdom ; Anticonvulsants/adverse effects ; Anticonvulsants/therapeutic use ; Female

المؤلفون: Tolezano GC; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Bastos GC; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., da Costa SS; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Scliar MO; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., de Souza CFM; Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Van Der Linden H Jr; Rehabilitation Center Dr. Hennrique Sanntillo, Goiânia, GO, Brazil., Fernandes WLM; Department of Pediatrics, College of Medicine of Pouso Alegre, Pouso Alegre, MG, Brazil., Otto PA; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Haddad LA; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Honjo RS; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Yamamoto GL; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil.; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Kim CA; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Jorge AAL; Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Bertola DR; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil.; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Krepischi ACV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil. ana.krepischi@ib.usp.br.

المصدر: Molecular neurobiology [Mol Neurobiol] 2024 Aug; Vol. 61 (8), pp. 5230-5247. Date of Electronic Publication: 2024 Jan 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly*/genetics , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/diagnosis, Humans ; Brazil ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Exome Sequencing ; Syndrome ; Young Adult ; Cohort Studies ; Adult ; Infant

المؤلفون: Trajkova S; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin 10126, Italy., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada., Rossi Sebastiano M; Molecular Biotechnology Center 'Guido Tarone' University of Turin, 10126 Turin, Italy; Department of Molecular Biotechnology and Health Sciences, University of Turin, CASSMedChem, 10126 Turin, Italy., Pavinato L; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Ferrero E; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Giovenino C; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Carli D; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Di Gregorio E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Marinoni R; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Mandrile G; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, Orbassano, TO 10049, Italy., Palermo F; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, Orbassano, TO 10049, Italy., Carestiato S; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin 10126, Italy., Cardaropoli S; Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy., Pullano V; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin 10126, Italy., Rinninella A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, 94124 Catania, Italy., Giorgio E; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy., Pippucci T; IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Dimartino P; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy., Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada., Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada., Petlichkovski A; Department of Immunology and Human Genetics, Faculty of Medicine, University 'Sv. Kiril I Metodij', Skopje 1000, Republic of Macedonia., Pasini B; Department of Medical Sciences, University of Turin, 10126 Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Sukarova-Angelovska E; Department of Endocrinology and Genetics, Faculty of Medicine, University 'Sv. Kiril I Metodij', Skopje 1000, Republic of Macedonia., Campbell CM; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Metcalfe K; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Jenkinson S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Banka S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9WL, UK., Mussa A; Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy; Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, 10126 Turin, Italy., Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, 10043 Turin, Italy., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada., Brusco A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin 10126, Italy. Electronic address: alfredo.brusco@unito.it.

المصدر: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100309. Date of Electronic Publication: 2024 May 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation*/genetics , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/diagnosis, Humans ; Male ; Female ; Transcription Factors/genetics ; Child ; Epigenesis, Genetic ; Child, Preschool ; DNA-Binding Proteins/genetics ; Mutation ; Adolescent

المؤلفون: Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen 72076, Germany., Cheng F; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany., Collins SC; Inserm UMR1231, Université de Bourgogne, Dijon Cedex 21070, France., Hustinx A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn 53127, Germany., Navarro N; Biogeosciences, UMR 6282 CNRS, EPHE, Université de Bourgogne, Dijon 2100, France.; EPHE, PSL University, Paris 75014, France., Welsch S; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf 40225, Germany., Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B15 2TG, UK., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn 53127, Germany., Vijayananth A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn 53127, Germany., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany., Bender B; Diagnostic and Interventional Neuroradiology, Radiologic Clinics, University of Tübingen, Tübingen 72076, Germany., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Zafar F; Pediatric Neurology, Children's Hospital, Multan 60000, Pakistan., Rana N; Pediatric Neurology, Children's Hospital, Multan 60000, Pakistan., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Center for Rare Disease, University of Tübingen, Tübingen 72072, Germany., Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany., Seibt A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf 40225, Germany., Zheng W; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany., Ghaedi H; Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran., Thirion M; Inserm UMR1231, Université de Bourgogne, Dijon Cedex 21070, France., Couette S; Biogeosciences, UMR 6282 CNRS, EPHE, Université de Bourgogne, Dijon 2100, France.; EPHE, PSL University, Paris 75014, France., Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran., Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 6155689467, Iran., Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 6155689467, Iran., Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 6155689467, Iran.; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran., Ramshe SM; Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran., Zare A; Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran., Alipoor B; Department of Laboratory Sciences, Faculty of Paramedicine, Yasuj University of Medical Sciences, Yasuj 7591741417, Iran., Klee D; Department of Pediatric Radiology, Medical Faculty, Institute of Radiology, Heinrich-Heine-University, Düsseldorf 40225, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Genomics England, Queen Mary University of London, London EC1M 6BQ, UK., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen 72076, Germany., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Center for Rare Disease, University of Tübingen, Tübingen 72072, Germany., Wieczorek D; Medical Faculty and University Hospital Düsseldorf, Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Düsseldorf 40225, Germany., Gavin R; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn 53127, Germany., Yalcin B; Inserm UMR1231, Université de Bourgogne, Dijon Cedex 21070, France., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf 40225, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, 72076, Germany.; Center for Rare Disease, University of Tübingen, Tübingen 72072, Germany.

المصدر: Brain : a journal of neurology [Brain] 2024 Jul 05; Vol. 147 (7), pp. 2471-2482.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Mice, Knockout* , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology, Adolescent ; Animals ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Mice ; Transcription Factors/genetics

المؤلفون: Asif M; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Khayyat AIA; Biochemistry Department, King Saud University, Riyadh, Saudi Arabia., Alawbathani S; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; GenAlive Lab, Riyadh, Saudi Arabia., Abdullah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi, Pakistan., Sanner A; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Georgomanolis T; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Haasters J; Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, LMU Hospital Munich, Ludwig-Maximilians-Universität, Munich, Germany., Becker K; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Budde B; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Becker C; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Baig SM; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan; Health Services Academy (HSA), Ministry of National Health Services Regulations and Coordination (MNHSR&C), Islamabad, Pakistan., Isidoro-García M; Reference Unit for Rare Diseases DiERCyL, Clinical Biochemistry Department, University Hospital of Salamanca, Medicine Department, University of Salamanca, IBSAL, Salamanca, Spain., Winter D; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Pogoda HM; Institute of Zoology, Developmental Biology Unit, University of Cologne, Cologne, Germany., Muhammad S; Department of Neurosurgery, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany., Hammerschmidt M; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Institute of Zoology, Developmental Biology Unit, University of Cologne, Cologne, Germany., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Martin HG; Departamento de Pediatría, Hospital Universitario de Salamanca, INCYL member, Salamanca, Spain., Wagner M; Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, LMU Hospital Munich, Ludwig-Maximilians-Universität, Munich, Germany; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Hussain MS; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. Electronic address: mhussain@uni-koeln.de.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul; Vol. 26 (7), pp. 101143. Date of Electronic Publication: 2024 Apr 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly*/genetics , Microcephaly*/pathology , Muscle Hypotonia*/genetics , Muscle Hypotonia*/pathology , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Loss of Function Mutation*/genetics , Pedigree*, Humans ; Male ; Female ; Child, Preschool ; Alleles ; Child ; Infant ; Exome Sequencing ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Autophagy/genetics

المؤلفون: Boeri S; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health Department of Neuroscience (DINOGMI), University of Genoa, Genoa, Italy., Bodria M; Unit of Nephrology and Kidney Transplant, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ammendola RM; Radiology Unit, Azienda Socio-Sanitaria Territoriale Della Brianza, Monza, Italy., Giacomini T; Department of Mental Health and Addiction, Azienda Sanitaria Locale 3, Genoa, Italy.; Neuroradiology Unit, IRCCS Giannina Gaslini, Genoa, Italy., Tortora D; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Largo G Gaslini, 5, 16147, Genova, Italy., Nobili L; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health Department of Neuroscience (DINOGMI), University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Largo G Gaslini, 5, 16147, Genova, Italy., Malacarne M; Human Genetics Laboratory, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Rossi A; Department of Mental Health and Addiction, Azienda Sanitaria Locale 3, Genoa, Italy.; Neuroradiology Unit, IRCCS Giannina Gaslini, Genoa, Italy.; Department of Health Sciences, University of Genoa, Genoa, Italy., Verrina E; Unit of Nephrology and Kidney Transplant, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Piaggio G; Unit of Nephrology and Kidney Transplant, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Largo G Gaslini, 5, 16147, Genova, Italy. margheritamancardi@gaslini.org., Severino M; Department of Mental Health and Addiction, Azienda Sanitaria Locale 3, Genoa, Italy.; Neuroradiology Unit, IRCCS Giannina Gaslini, Genoa, Italy.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Jul; Vol. 39 (7), pp. 2115-2129. Date of Electronic Publication: 2024 Feb 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Neurodevelopmental Disorders*/epidemiology , Neurodevelopmental Disorders*/etiology , Neurodevelopmental Disorders*/diagnosis , Magnetic Resonance Imaging* , Spine*/abnormalities , Spine*/diagnostic imaging , Urogenital Abnormalities*/epidemiology , Urogenital Abnormalities*/complications , Urogenital Abnormalities*/diagnosis , Brain*/diagnostic imaging , Brain*/abnormalities , Brain*/pathology, Humans ; Male ; Female ; Child ; Child, Preschool ; Retrospective Studies ; Infant ; Adolescent ; Vesico-Ureteral Reflux

SCR Disease Name: Cakut

المؤلفون: Edmond MA; Department of Medicine, Miller School of Medicine, University of Miami, Miami, FL, USA.; Texas A&M University Health Science Center, Department of Neuroscience & Experimental Therapeutics, Bryan, USA., Hinojo-Perez A; Department of Medicine, Miller School of Medicine, University of Miami, Miami, FL, USA., Efrem M; Department of Biotechnology and Pharmaceutical Sciences, College of Pharmacy, Western University of Health Sciences, Pomona, CA, USA., Yi-Chun L; Department of Biotechnology and Pharmaceutical Sciences, College of Pharmacy, Western University of Health Sciences, Pomona, CA, USA., Shams I; Department of Medicine, Miller School of Medicine, University of Miami, Miami, FL, USA., Hayoz S; Department of Medicine, Miller School of Medicine, University of Miami, Miami, FL, USA.; Department of Physiology, University of Arizona, Tucson, USA., de la Cruz A; Department of Medicine, Miller School of Medicine, University of Miami, Miami, FL, USA.; Linkoping University, Department of Biomedical and Clinical Sciences (BKV), Linkoping, Sweden., Perez Rodriguez ME; Department of Medicine, Miller School of Medicine, University of Miami, Miami, FL, USA., Diaz-Solares M; Department of Medicine, Miller School of Medicine, University of Miami, Miami, FL, USA., Dykxhoorn DM; John P. Hussman Institute for Human Genomics, John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA., Luo YL; Department of Biotechnology and Pharmaceutical Sciences, College of Pharmacy, Western University of Health Sciences, Pomona, CA, USA., Barro-Soria R; Department of Medicine, Miller School of Medicine, University of Miami, Miami, FL, USA. rbarro@med.miami.edu.

المصدر: Communications biology [Commun Biol] 2024 Sep 19; Vol. 7 (1), pp. 1181. Date of Electronic Publication: 2024 Sep 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-3642 (Electronic) Linking ISSN: 23993642 NLM ISO Abbreviation: Commun Biol Subsets: MEDLINE

مواضيع طبية MeSH: KCNQ3 Potassium Channel*/genetics , KCNQ3 Potassium Channel*/metabolism , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/drug therapy , Mutation* , Molecular Dynamics Simulation*, Humans ; Ion Channel Gating/drug effects ; Animals ; HEK293 Cells ; Membrane Potentials/drug effects