Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Samantha S, Vergano"'
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. (3)
Coffin-Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2f6a24fc2c81548268c842f060bf0ef5
https://pubmed.ncbi.nlm.nih.gov/25169447
https://pubmed.ncbi.nlm.nih.gov/25169447
Autor:
Peluso F; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Caraffi SG; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Contrò G; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Valeri L; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Department of Pediatrics, University of Modena and Reggio Emilia Faculty of Medicine and Surgery, Modena, Emilia-Romagna, Italy., Napoli M; Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Carboni G; Radiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Seth A; Radiology, Rigshospitalet, Kobenhavn, Denmark., Zuntini R; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Coccia E; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Astrea G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Bisgaard AM; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark., Ivanovski I; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Maitz S; Service of Medical Genetics, IOSI, EOC, Lugano, Switzerland., Brischoux-Boucher E; Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia., Carter MT; The University of Newcastle, Callaghan, New South Wales, Australia., Dentici ML; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark., Devriendt K; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Bellini M; Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy., Digilio MC; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Doja A; The University of Newcastle, Callaghan, New South Wales, Australia., Dyment DA; The University of Newcastle, Callaghan, New South Wales, Australia., Farholt S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Ferreira CR; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal., Wolfe LA; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal., Gahl WA; National Human Genome Research Institute, Bethesda, Maryland, USA., Gnazzo M; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Goel H; Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.; The University of Newcastle, Callaghan, New South Wales, Australia., Grønborg SW; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark., Hammer T; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Iughetti L; Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy.; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Lepri FR; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Lemire G; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada., Louro P; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal., McCullagh G; Royal Manchester Children's Hospital and University of Manchester, Royal Manchester Children's Hospital, Manchester, Manchester, UK., Madeo SF; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Milone A; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Milone R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Nielsen JEK; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Sjaelland, Denmark., Novelli A; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Pascarella R; Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Emilia-Romagna, Italy., Ricca I; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Sawyer S; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada., Falkenberg Smeland M; Department of Medical Genetics, University Hospital of North Norway, Tromso, Troms, Norway., Stegmann S; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands., Stumpel CT; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands., Goel A; University of Newcastle, Callaghan, The University of Newcastle, Callaghan, New South Wales, Australia., Taylor JM; Genetic Health Service - Northern Hub, Genetic Health Service - Northern Hub, Aukland, New Zealand., Barbuti D; Radiology and Bioimaging Unit, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Soresina A; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Ex-perimental Sciences, ASST Spedali Civili di Brescia, Brescia, Lombardia, Italy., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Toscana, Italy., Cavalli A; Child Neurology and Psychiatry Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Fusco C; Child Neurology and Psychiatry Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Lombardia, Italy., Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Centre Hospitalier Universitaire de Besancon, Besancon, France., Venkateswaran S; The University of Newcastle, Callaghan, New South Wales, Australia., Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Lombardia, Italy., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Garavelli L; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy livia.garavelli@ausl.re.it., Bayat A; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Syddanmark, Denmark.
Publikováno v:
Journal of medical genetics [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1224-1234. Date of Electronic Publication: 2023 Nov 27.
Consolidation of the clinical and genetic definition of a SOX4- related neurodevelopmental syndrome.
Autor:
Angelozzi M; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Karvande A; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Molin AN; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Ritter AL; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Leonard JMM; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Douglass K; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Myers SM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Grippa M; U.O. Genetica Medica, Universita di Bologna, Bologna, Italy., Tolchin D; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Donoghue S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hurst ACE; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Descartes M; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Smith K; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Velasco D; Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA., Schmanski A; Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA., Crunk A; GeneDx Inc, Gaithersburg, Maryland, USA., Tokita MJ; GeneDx Inc, Gaithersburg, Maryland, USA., de Lange IM; Department of Medical Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, The Netherlands., van Gassen K; Department of Medical Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, The Netherlands., Robinson H; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Guegan K; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Suri M; Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Bournez M; Centres de référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Dijon, Dijon, France., Faivre L; Centre de Génétique, Centre Hospitalier Universitaire de Dijon Hôpital d'Enfants, Dijon, France., Tran-Mau-Them F; Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France.; Functional Unit 6254 Innovation in Genomic Diagnosis of Rare Diseases, CHU Dijon Bourgogne, Dijon, France., Baker J; Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Fabie N; Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Weaver K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Hopkin RJ; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Barge-Schaapveld DQCM; Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp CA; Laboratory for Diagnostic Genome Analyses, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bökenkamp R; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Seco Moro MN; Clinical Analysis Department, Hospital Universitario de Móstoles, Mostoles, Spain., Díaz de Bustamante A; Department of Genetics, Hospital Universitario de Móstoles, Mostoles, Spain., Misra VK; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Discipline of Pediatrics, Central Michigan University, Mount Pleasant, Michigan, USA., Kennelly K; Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan, USA., Rogers C; Department of Molecular and Medical Genetics, Oregon Health & Science University School of Medicine, Portland, Oregon, USA., Friedman J; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Division of Neurology, Rady Children's Hospital, San Diego, California, USA., Wigby KM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Lenberg J; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Graziano C; Department of Pediatrics, University of California San Diego, San Diego, California, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Division of Neurology, Rady Children's Hospital, San Diego, California, USA.; U.O. Genetica Medica, AUSL della Romagna Rimini, Cesena, Italy., Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu., Lefebvre V; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Nov; Vol. 59 (11), pp. 1058-1068. Date of Electronic Publication: 2022 Mar 01.
Autor:
Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Strong A; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Shen KM; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cassiman D; University Hospitals and University of Leuven, Metabolic Center, Leuven, Belgium., Van Dyck M; University Hospitals and University of Leuven, Pediatric Nephrology, Leuven, Belgium., Linhares ND; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Valadares ER; CENTRARE-Centro de Referência em fendas orofaciais, Fundação Benjamin Guimarães-Hospital da Baleia, Belo Horizonte, Brazil., Wang T; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pena SDJ; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Laboratório Gene-Núcleo de Genética Médica, Belo Horizonte, Brazil., Jaeken J; University Hospitals and University of Leuven, Metabolic Center, Leuven, Belgium., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA., Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hing A; Division of Genetics, Seattle Children's Hospital, Seattle, WA, USA., Chow P; Division of Genetics, Seattle Children's Hospital, Seattle, WA, USA., Ganguly A; Department of Genetics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Scholz T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Philipp D; Department of Neonatology and Pediatric Intensive Care Medicine, University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bhoj E; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@email.chop.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 637-644. Date of Electronic Publication: 2020 Nov 27.
Autor:
Crow K; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA., Glad R; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA., Venugopal A; Department of Pediatrics, Children's Hospital of the King's Daughters, Eastern Virginia Medical School, Norfolk, VA., Khan JH; Division of Neonatal Medicine.; Department of Pediatrics, Children's Hospital of the King's Daughters, Eastern Virginia Medical School, Norfolk, VA., Vergano S; Division of Medical Genetics and Metabolism.; Department of Pediatrics, Children's Hospital of the King's Daughters, Eastern Virginia Medical School, Norfolk, VA., Bass WT; Division of Neonatal Medicine.; Department of Pediatrics, Children's Hospital of the King's Daughters, Eastern Virginia Medical School, Norfolk, VA.
Publikováno v:
NeoReviews [Neoreviews] 2020 Jul; Vol. 21 (7), pp. e483-e485.
Autor:
Di Donato N; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany. nataliya.didonato@uniklinikum-dresden.de., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Heinritz W; Praxis für Humangenetik Cottbus, Cottbus, Germany., Bodurtha J; Medical College of Virginia, Department of Human and Molecular Genetics, Richmond, Virginia., Merchant SR; Department of Pediatric Neurology, New York Presbyterian Hospital and Weill Cornell Medical College, New York, New York., Breningstall G; Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, St. Paul, Minnesota., Ladda R; Penn State Hershey Children's Hospital, Hershey, Pennsylvania., Sell S; Penn State Hershey Children's Hospital, Hershey, Pennsylvania., Altmüller J; Cologne Center for Genomics, Cologne, Germany., Bögershausen N; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington., Hackmann K; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany., Schrock E; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany., Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Olds C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Rump A; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Department of Pediatrics, University of Washington, Seattle, Washington.; Department of Neurology, University of Washington, Seattle, Washington.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2016 Oct; Vol. 170 (10), pp. 2644-51. Date of Electronic Publication: 2016 May 30.
Autor:
Helm BM; Department of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters/Eastern Virginia Medical School, 601 Children's Lane, 2nd Floor Pediatrics, Norfolk, VA, 23507, USA, Benjamin.Helm@chkd.org., Langley K, Spangler B, Vergano S
Publikováno v:
Journal of genetic counseling [J Genet Couns] 2014 Aug; Vol. 23 (4), pp. 489-95. Date of Electronic Publication: 2013 Nov 13.