نتائج البحث - "Simon MEH"

المؤلفون: Kalm T; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Schob C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Völler H; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Klabunde-Cherwon A; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Ries M; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Beccaria F; Epilepsy Center, Department of Child Neuropsychiatry, Territorial Social-Health Agency, 46100 Mantova, Italy., Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Scala M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy., Hofstede F; Department of General Pediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands., Simon MEH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., van Jaarsveld RH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Oegema R; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., van Gassen KLI; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Holwerda SJB; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., Álvarez S; Genomics and Medicine, NIMGenetics, 28108 Madrid, Spain., Fernández-Jaén A; Pediatric Neurology Department, Quironsalud University Hospital Madrid, School of Medicine, European University of Madrid, 28224 Madrid, Spain., Porta J; Genomics, Genologica Medica, 29016 Málaga, Spain., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Department of Human Genetics, McGill University, QC H4A 3J1 Montreal, Canada., Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy; Pediatric Neurology and Neuromuscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea., Jang S; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea., Kim SY; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto ON M5G 1E2 Toronto, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, AB T6G 2H7 Edmonton, Canada., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Kampmeier A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Surowy H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Bertini ES; Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Pizzi S; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Gauthier L; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France., Genevieve D; Montpellier University, Inserm U1183, Montpellier, France; Department of Clinical Genetics, University Hospital of Montpellier, 34295 Montpellier, France., Tharreau M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France., Azoulay N; The Genetic Institute of Maccabi Health Services, Rehovot 7610000, Israel; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel., Zaks-Hoffer G; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel., Gilad NK; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel., Orenstein N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel., Bernard G; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada., Thiffault I; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Bähring R; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: r.baehring@uke.uni-hamburg.de., Kindler S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kindler@uke.de.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1206-1221. Date of Electronic Publication: 2024 May 20.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Epilepsy/genetics ; Exome Sequencing ; Genetic Diseases, X-Linked/genetics ; Heterozygote ; Mutation, Missense/genetics ; Pedigree ; Phenotype ; Shal Potassium Channels/genetics

9

دورية أكاديمية

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

المؤلفون: Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, NY, USA., Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Hannan SB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Drewes Williams S; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., O'Grady L; Division of Medical Genetics & Metabolism, Massachusetts General for Children, Boston, MA, USA; MGH Institute of Health Professions, Charlestown, MA, USA., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Person R; GeneDx, LLC, Gaithersburg, MD, USA., Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Roberts AE; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA; Department of Medicine, Division of Genetics, Boston Children's Hospital, Boston, MA, USA., Newburger JW; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Revah-Politi A; Institute for Genomic Medicine and Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA., Granadillo JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Accogli A; Division of Medical Genetics, Department of Medicine, McGill University Health Center, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada., Salpietro V; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London, UK., Capra V; Unit of Medical Genetics and Genomics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ghaloul-Gonzalez L; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Brueckner M; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Simon MEH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Sweetser DA; Division of Medical Genetics & Metabolism, Massachusetts General for Children, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Genetics, Texas Children's Hospital, Houston, TX, USA., Kirk SE; Section of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Cancer and Hematology Center, Houston, TX, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA., Chung WK; Departments of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: wendy.chung@childrens.harvard.edu., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA. Electronic address: hbellen@bcm.edu.

مؤلفون مشاركون: Baylor College of Medicine Center for Precision Medicine Models

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 742-760. Date of Electronic Publication: 2024 Mar 12.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Musculoskeletal Abnormalities*/genetics, Animals ; Child ; Humans ; Developmental Disabilities/genetics ; Developmental Disabilities/diagnosis ; Mammals ; Mutation, Missense ; Transcription Factors/genetics ; Drosophila

10

دورية أكاديمية

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

المؤلفون: Koch I; https://ror.org/00sfn8y78 Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA., Slovik M; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., Zhang Y; https://ror.org/0207yh398 Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan, PR China., Liu B; https://ror.org/0207yh398 Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan, PR China., Rennie M; https://ror.org/00vtgdb53 School of Molecular Biosciences, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow, UK., Konz E; https://ror.org/00sfn8y78 Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA., Cogne B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Daana M; Child Development Centers, Clalit Health Care Services, Jerusalem, Israel., Davids L; Department of Neurosciences, Children's Healthcare of Atlanta, Atlanta, GA, USA., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Gold NB; Massachusetts General Hospital for Children, Boston, MA, USA.; https://ror.org/03wevmz92 Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Holtz AM; https://ror.org/03wevmz92 Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA., Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Mor-Shaked H; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., Neira Fresneda J; https://ror.org/03czfpz43 Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Niederhoffer KY; https://ror.org/0160cpw27 Department of Medical Genetics, University of Alberta, Edmonton, Canada., Nizon M; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Simon M; https://ror.org/0575yy874 Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Wevers M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Yanovsky-Dagan S; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., Atanassov BS; Department of Pharmacology and Therapeutics, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA., Toth R; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, UK., Gao C; https://ror.org/0207yh398 Department of Immunology, School of Biomedical Sciences, Shandong University, Jinan, PR China., Bustos F; https://ror.org/00sfn8y78 Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA Francisco.bustos@sanfordhealth.org.; Department of Pediatrics, University of South Dakota, Sioux Falls, SD, USA., Harel T; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel tamarhe@hadassah.org.il.; https://ror.org/01cqmqj90 Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.

المصدر: Life science alliance [Life Sci Alliance] 2024 Jan 05; Vol. 7 (3). Date of Electronic Publication: 2024 Jan 05 (Print Publication: 2024).

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

بيانات الدورية: Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Mental Retardation, X-Linked*/genetics, Humans ; Cell Proliferation ; Computational Biology ; Neurogenesis

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