المؤلفون: Parra A; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain., Pascual P; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain., Cazalla M; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain., Arias P; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain., Gallego-Zazo N; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain., San-Martín EA; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; Unidad de Genética Adultos, Hospital Guillermo Grant Benavente, Concepción, Chile., Silván C; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain., Santos-Simarro F; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, Idisba, Palma de Mallorca, Spain., Nevado J; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain., Tenorio-Castano J; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain., Lapunzina P; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain.

مؤلفون مشاركون: Spanish OverGrowth Registry Initiative (SOGRI); Spanish OverGrowth Registry Initiative, La Paz University Hospital, Madrid, Spain.

المصدر: Clinical genetics [Clin Genet] 2024 Feb; Vol. 105 (2), pp. 140-149. Date of Electronic Publication: 2023 Oct 30.

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

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: Neurodevelopmental Disorders*/genetics , Intellectual Disability*/pathology , Nervous System Malformations*/genetics , Brain Diseases*, Male ; Female ; Humans ; Muscle Hypotonia/genetics ; DEAD-box RNA Helicases/genetics

المؤلفون: Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Gómez ÁS; Primary Care Pediatrician, SERMAS, Madrid, Spain., Coronado M; Department of Radiology, Hospital Universitario La Paz, Madrid, Spain., Rodríguez-Martín P; Instituto Cajal, Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain., Parra A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Pascual P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Cazalla M; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Gallego N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Morales AV; Instituto Cajal, Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain., Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; INGEMM-IdIPAZ, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.

المصدر: Clinical genetics [Clin Genet] 2023 Dec; Vol. 104 (6), pp. 637-647. Date of Electronic Publication: 2023 Sep 13.

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

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: Intellectual Disability*/genetics , Autism Spectrum Disorder*/genetics , Neurodevelopmental Disorders*, Humans ; Prospective Studies ; Haploinsufficiency ; Syndrome ; Phenotype ; SOXD Transcription Factors/genetics

المؤلفون: Pascual P; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Tenorio-Castano J; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Mignot C; Département de Génétique, APHP Sorbonne Université, 75013 Paris, France.; Centre de Réference Déficiences Intellectuelles de Causes Rares, 75013 Paris, France., Afenjar A; Département de Génétique, APHP Sorbonne Université, 75013 Paris, France.; Centre de Réference Déficiences Intellectuelles de Causes Rares, 75013 Paris, France., Arias P; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Gallego-Zazo N; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Parra A; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Miranda L; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Cazalla M; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain., Silván C; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain., Heron D; Département de Génétique, APHP Sorbonne Université, 75013 Paris, France.; Centre de Réference Déficiences Intellectuelles de Causes Rares, 75013 Paris, France., Keren B; Département de Génétique, APHP Sorbonne Université, 75013 Paris, France., Popa I; Département de Génétique, APHP Sorbonne Université, 75013 Paris, France., Palomares M; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Rikeros E; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Ramos FJ; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario 'Lozano Blesa', Facultad de Medicina, Universidad de Zaragoza, IIS-Aragón Grupo B32-20R, 50013 Zaragoza, Spain., Almoguera B; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; Department of Genetics and Genomics, Fundación Jiménez Díaz University Hospital, Health Research Institute Fundación Jiménez Díaz (IIS-FJD), 28040 Madrid, Spain., Ayuso C; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; Department of Genetics and Genomics, Fundación Jiménez Díaz University Hospital, Health Research Institute Fundación Jiménez Díaz (IIS-FJD), 28040 Madrid, Spain., Swafiri ST; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; Department of Genetics and Genomics, Fundación Jiménez Díaz University Hospital, Health Research Institute Fundación Jiménez Díaz (IIS-FJD), 28040 Madrid, Spain., Barbero AIS; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; Department of Genetics and Genomics, Fundación Jiménez Díaz University Hospital, Health Research Institute Fundación Jiménez Díaz (IIS-FJD), 28040 Madrid, Spain., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560029, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560029, India., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy., D'Arrigo S; ITHACA, European Reference Network, 1140 Brussels, Belgium.; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Ciaccio C; ITHACA, European Reference Network, 1140 Brussels, Belgium.; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Martin Mesa C; HM Hospitales, 28660 Madrid, Spain., Paumard B; HM Hospitales, 28660 Madrid, Spain., Guillen G; HM Hospitales, 28660 Madrid, Spain., Anton ATS; Department of Medical Genetics, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, 30120 Murcia, Spain., Jimenez MD; Department of Medical Genetics, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, 30120 Murcia, Spain., Seidel V; Genomics Unit, HGU Gregorio Marañón, 28007 Madrid, Spain., Suárez J; Genomics Unit, HGU Gregorio Marañón, 28007 Madrid, Spain., Cormier-Daire V; Department of Genomic Medicine for Rare Diseases, INSERM UMR1163, Imagine Institute, Necker Enfants Malades Hospital, Paris Cité University, 75015 Paris, France., Consortium TS; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Nevado J; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium., Lapunzina P; CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain.; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, 1140 Brussels, Belgium.

المصدر: Genes [Genes (Basel)] 2023 Aug 23; Vol. 14 (9). Date of Electronic Publication: 2023 Aug 23.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Hypertelorism* , Intellectual Disability*/genetics , Language Development Disorders* , Megalencephaly*/genetics , Developmental Disabilities*/genetics, Humans ; DNA Helicases/genetics ; Histones ; Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics

المؤلفون: Schön M; Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany. Electronic address: michael.schoen@uni-ulm.de., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Nevado J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Mattina T; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy., Gunnarsson C; Department of Clinical Genetics and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Centre for Rare Diseases in South East Region of Sweden, Linköping University, Linköping, Sweden., Hadzsiev K; Department of Medical Genetics, Medical School, University of Pécs, Pécs, Hungary., Verpelli C; CNR Neuroscience Institute, Milano, Italy., Bourgeron T; Génétique Humaine et Fonctions Cognitives, Institut Pasteur, UMR3571 CNRS, Université de Paris Cité, IUF, Paris, France., Jesse S; Department of Neurology, Ulm University, Ulm, Germany., van Ravenswaaij-Arts CMA; University of Groningen, University Medical Centre Groningen, Dept Genetics, Groningen, Netherlands., Hennekam RC; Department of Pediatrics, Amsterdam University Medical Center, Amsterdam, Netherlands.

مؤلفون مشاركون: European Phelan-McDermid syndrome consortium; University of Groningen, University Medical Centre Groningen, Dept Genetics, Groningen, Netherlands.

المصدر: European journal of medical genetics [Eur J Med Genet] 2023 Jul; Vol. 66 (7), pp. 104754. Date of Electronic Publication: 2023 Mar 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Intellectual Disability*/complications , Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics , Chromosome Disorders*/pathology, Humans ; DNA Copy Number Variations ; Nerve Tissue Proteins/genetics ; Chromosome Deletion ; Phenotype ; Syndrome ; Chromosomes, Human, Pair 22/genetics

SCR Disease Name: Telomeric 22q13 Monosomy Syndrome

المؤلفون: Parra A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA., Pascual P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Cazalla M; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain., Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Gallego-Zazo N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Santana A; Clinical Genetics Unit, Complejo Hospitalario Universitario Insular-Materno Infantil de Las Palmas de Gran Canaria, 35016 Las Palmas de Gran Canaria, Spain., Arroyo I; Pediatrics Department, San Pedro de Alcántara Hospital, 10003 Cáceres, Spain., Artigas M; Genetics Unit, Hospital de Navarra, 31008 Pamplona, Spain., Pachajoa H; Fundación Valle del Lili, Universidad Icesi, 760032 Cali, Colombia., Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.; Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey., Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.; Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey., Ruaud L; Department of Genetics, APHP-Robert Debré University Hospital, 75019 Paris, France.; INSERM UMR1141, Neurodiderot, University of Paris Cité, 75019 Paris, France., Couque N; Department of Genetics, APHP-Robert Debré University Hospital, 75019 Paris, France.; Laboratoire de Biologie Médicale Multisites Seqoia-FMG2025, 75014 Paris, France., Levy J; Department of Genetics, APHP-Robert Debré University Hospital, 75019 Paris, France.; Laboratoire de Biologie Médicale Multisites Seqoia-FMG2025, 75014 Paris, France., Porras-Hurtado GL; Línea de Investigación de Anomalías Congénitas y Enfermedades Huérfanas-Comfamiliar, Risaralda, Colombia., Santos-Simarro F; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, Idisba, 07120 Palma de Mallorca, Spain., Ballesta-Martinez MJ; Sección de Genética Médica, Hospital Clínico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain.; Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain., Guillén-Navarro E; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain., Muñoz-Hernández H; Department of Biology, Institute of Molecular Biology and Biophysics, ETH Zurich, 8092 Zurich, Switzerland., Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Spanish OverGrowth Registry Initiative; Spanish OverGrowth Registry Initiative, La Paz University Hospital, 28046 Madrid, Spain., Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain.

المصدر: Genes [Genes (Basel)] 2023 May 29; Vol. 14 (6). Date of Electronic Publication: 2023 May 29.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Intellectual Disability*/genetics, Humans ; Muscle Hypotonia/genetics ; Phenotype ; Syndrome

المؤلفون: Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center of Functional Genomics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Bienvenu T; INSERM U1266, Institut de Psychiatrie et de Neurosciences de Paris, Université de Paris, Paris, France., Giurgea I; Département de Génétique Médicale, INSERM Childhood Genetic Diseases, AP-HP. Sorbonne Université, Hôpital Trousseau, Paris, France., Metreau J; APHP, Service de Neurologie Pédiatrique, Hôpital Universitaire Bicetre, Le Kremlin-Bicetre, France., Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Dresden, Germany., Bralo MP; INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, IDIPAZ, Madrid, Spain.; ITHACA European Reference Network, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain., Tenorio-Castaño J; INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, IDIPAZ, Madrid, Spain.; ITHACA European Reference Network, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain., Lapunzina P; INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, IDIPAZ, Madrid, Spain.; ITHACA European Reference Network, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain., Almoguera B; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Department of Genetics and Genomics, Fundación Jiménez Díaz University Hospital, Madrid, Spain., Lopez-Grondona F; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Department of Genetics and Genomics, Fundación Jiménez Díaz University Hospital, Madrid, Spain., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

المصدر: Clinical genetics [Clin Genet] 2022 Dec; Vol. 102 (6), pp. 517-523. Date of Electronic Publication: 2022 Aug 16.

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

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: Intellectual Disability*/genetics , Epilepsy*, Humans ; Transcription Factor 4/genetics ; Facies ; Hyperventilation/diagnosis

SCR Disease Name: Pitt-Hopkins syndrome

المؤلفون: Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., McNiven V; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5T 3L9, Canada., Cytrynbaum C; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada., Jangjoo M; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Adam MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98105, USA., Bjornsson HT; McKusick-Nathans Institute of Genetic Medicine, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland., Harris J; Kennedy Krieger Institute, Baltimore, MD 21205, USA., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 5B2, Canada., Graham GE; Division of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Nezarati MM; Genetics Program, North York General Hospital, Toronto, ON M2K 1E1, Canada., Aul RB; Mackenzie Health, Richmond Hill, ON L4C 4Z3, Canada., Castiglioni C; Departmento de Neurologica Pediatrica, Clinica Las Condes, Santiago 7591046, Chile., Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium., Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium., Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals, NHS Foundation Trust, Headington, Oxford OX3 7HE, UK., Banos-Pinero B; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Mehta S; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK., Sandford R; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK., Dunn C; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK., Mathevet R; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France., van Maldergem L; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France., Piard J; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France., Brischoux-Boucher E; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France., Vitobello A; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; UF diagnostic génomiques et maladies rares et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon-Bourgogne, Dijon 21079, France., Faivre L; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; Centre de référence Anomalies du Développement et syndromes malformatifs et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon-Bourgogne, Dijon 21079, France., Bournez M; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; Centre de référence Anomalies du Développement et syndromes malformatifs et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon-Bourgogne, Dijon 21079, France., Tran-Mau F; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; UF diagnostic génomiques et maladies rares et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon-Bourgogne, Dijon 21079, France., Maystadt I; Département de Génétique Clinique, Institut de Pathologie et de Génétique, Gosselies 6041, Belgium., Fernández-Jaén A; Department of. Pediatrics and Neurology, Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid, Madrid 28224, Spain., Alvarez S; Genonics and Medicine, NIMGenetics, Madrid 28108, Spain., García-Prieto ID; Genonics and Medicine, NIMGenetics, Madrid 28108, Spain., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alsaif HS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Center of Excellence for Biomedicine, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia., Rahbeeni Z; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., El-Akouri K; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha 3050, Qatar; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha 26999, Qatar., Al-Mureikhi M; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha 3050, Qatar; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha 26999, Qatar., Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University, Durham, NC 27710, USA., Shashi V; Department of Pediatrics-Medical Genetics, Duke University, Durham, NC 27710, USA., Sanchez-Lara PA; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Roberts A; Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Chorin O; Center for Human Genetics & Genomics and, Department of Pediatrics, NYU Grossman School of Medicine, New York City, NY 10016, USA., Evrony GD; Center for Human Genetics & Genomics and, Department of Pediatrics, NYU Grossman School of Medicine, New York City, NY 10016, USA., Kraatari-Tiri M; PEDEGO Research Unit, Medical Research Centre and Department of Clinical Genetics, University of Oulu and Oulu University Hospital, Oulu 90220, Finland., Dudding-Byth T; The University of Newcastle, Newcastle 2308, Australia., Richardson A; Faculty of Medicine, Department of Pediatrics, BC Children's Hospital and the University of British Columbia, Vancouver, BC V6H 3N1, Canada., Hunt D; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Hamilton L; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Dyack S; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS B3K 6R8, Canada., Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente Oakland, 3505 Broadway, Oakland, CA 94611, USA., Rodríguez N; Pediatrician Department, Hospital General Universitario de Alicante Dr. Balmis, Pintor Baeza, 11, 03010 Alicante, Spain., Sánchez-Martínez R; Internal Medicine Department, Hospital General Universitario de Alicante Dr. Balmis, Institute for Health and Biomedical Research of Alicante, Pintor Baeza, 11, 03010 Alicante, Spain., Tenorio-Castaño J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28042, Spain; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid 28046 Spain; ITHACA, European Reference Network, Brussels 1000, Belgium., Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28042, Spain; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid 28046 Spain; ITHACA, European Reference Network, Brussels 1000, Belgium., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28042, Spain; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid 28046 Spain; ITHACA, European Reference Network, Brussels 1000, Belgium., Tirado P; Neuropediatrics Service, La Paz University Hospital, Madrid 28046, Spain., Carminho Amaro Rodrigues MT; Department of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland., Quteineh L; Department of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland., Innes AM; Alberta Children's Hospital Research Institute for Child and Maternal Health, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA., Au PYB; Alberta Children's Hospital Research Institute for Child and Maternal Health, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada. Electronic address: billie.au@albertahealthservices.ca., Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca.

المصدر: American journal of human genetics [Am J Hum Genet] 2022 Oct 06; Vol. 109 (10), pp. 1867-1884. Date of Electronic Publication: 2022 Sep 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: DNA Methylation*/genetics , Intellectual Disability*/genetics, Abnormalities, Multiple ; Chromatin ; Epigenesis, Genetic ; Face/abnormalities ; Hematologic Diseases ; Heterogeneous-Nuclear Ribonucleoprotein K/genetics ; Humans ; Phenotype ; Vestibular Diseases

SCR Disease Name: Kabuki syndrome

المؤلفون: Arroyo Carrera I; Pediatrics Department, San Pedro de Alcántara Hospital, Cáceres, Spain., Fernández-Burriel M; Genetic Unit, Mérida Hospital, Mérida, Spain., Lapunzina P; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain., Tenorio JA; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain., García Navas VD; Pediatrics Department, San Pedro de Alcántara Hospital, Cáceres, Spain., Márquez Isidro E; Pediatrics Department, San Pedro de Alcántara Hospital, Cáceres, Spain.

المصدر: Clinical genetics [Clin Genet] 2021 Jun; Vol. 99 (6), pp. 812-817. Date of Electronic Publication: 2021 Feb 15.

نوع المنشور: Case Reports; 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: Autistic Disorder/*genetics , Intellectual Disability/*genetics , Mutation, Missense/*genetics , Receptors, Cytoplasmic and Nuclear/*genetics , Repressor Proteins/*genetics, Child, Preschool ; Humans ; Male ; Phenotype

المؤلفون: García-Santiago FA; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium., Martínez-Payo C; Department of Gynecology and Obstetrics, Hospital Universitario Puerta de Hierro, Madrid, Spain., Mansilla E; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium., Santos-Simarro F; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium., Ruiz de Azua Ballesteros M; Department of Gynecology and Obstetrics, Hospital Universitario Puerta de Hierro, Madrid, Spain., Mori MÁ; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain., Antolín Alvarado E; Universidad Autónoma de Madrid, Madrid, Spain.; Department of Gynecology and Obstetrics, Hospital Universitario La Paz, Madrid, Spain., Nieto Y; Department of Gynecology and Obstetrics, Hospital Universitario Puerta de Hierro, Madrid, Spain., Vallcorba I; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Tenorio J; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium., Nevado J; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium., Lapunzina P; INGEMM, Institute of Medical and Molecular Genetics-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Unidad 753, ISCIII, Madrid, Spain.; The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies (ERN ITHACA), Brussels, Belgium.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 May; Vol. 9 (5), pp. e1649. Date of Electronic Publication: 2021 Mar 18.

نوع المنشور: Case Reports; Journal Article

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

مواضيع طبية MeSH: Genetic Testing* , Ultrasonography, Prenatal*, Abnormalities, Multiple/*diagnostic imaging , Cerebral Ventricles/*diagnostic imaging , Corpus Callosum/*diagnostic imaging , Intellectual Disability/*diagnostic imaging, Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adult ; Cerebral Ventricles/embryology ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; Corpus Callosum/embryology ; Female ; Humans ; Infant, Newborn ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Pregnancy

SCR Disease Name: Chromosome 17q21.31 Deletion Syndrome

المؤلفون: Pacio Miguez M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain., Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Madrid, Spain., García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Madrid, Spain., Velázquez Fragua R; Servicio de Neurología Infantil. Hospital Universitario La Paz, Madrid, Spain., Del Pozo Á; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain., Solís M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain., Jiménez Rodríguez C; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain., Rufo-Rabadán V; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain., Fernandez VE; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain., Rueda I; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain., Gomez Del Pozo MV; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain., Gallego N; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Madrid, Spain., Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPaz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Madrid, Spain.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2222-2225. Date of Electronic Publication: 2020 Aug 18.

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

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

مواضيع طبية MeSH: Intellectual Disability/*genetics , Megalencephaly/*genetics , Microfilament Proteins/*genetics, Child ; Child, Preschool ; Female ; Humans ; Intellectual Disability/pathology ; Male ; Megalencephaly/pathology ; Mutation/genetics