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Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Mulder, P A; van Balkom, I D C; Landlust, A M; Priolo, M; Menke, L A; Acero, I H; Alkuraya, F S; Arias, P; Bernardini, L; Bijlsma, E K; Cole, T; Coubes, C; Dapia, I; Davies, S; Di Donato, N; Elcioglu, N H; Fahrner, J A; Foster, A; González, N G; Huber, I; Iascone, M; Kaiser, A-S; Kamath, A; Kooblall, K; Lapunzina, P; Liebelt, J; Lynch, S A; Maas, S M; Mammì, C; Mathijssen, I B; McKee, S; Mirzaa, G M; Montgomery, T; Neubauer, D; Neumann, T E; Pintomalli, L; Pisanti, M A; Plomp, A S; Price, S; Salter, C; Santos-Simarro, F; Sarda, P; Schanze, D; Segovia, M; Shaw-Smith, C; Smithson, S; Suri, M; Tatton-Brown, K; Tenorio, J; Thakker, R V.
Affiliation
  • Mulder PA; Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.
  • van Balkom IDC; Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.
  • Landlust AM; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, Netherlands.
  • Priolo M; Autism Team Northern-Netherlands, Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.
  • Menke LA; Unità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
  • Acero IH; Department of Paediatrics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
  • Alkuraya FS; Genetics Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.
  • Arias P; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, and Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Bernardini L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
  • Bijlsma EK; Cytogenetics Unit, Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, Italy.
  • Cole T; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.
  • Coubes C; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Dapia I; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.
  • Davies S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
  • Di Donato N; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Elcioglu NH; Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
  • Fahrner JA; Department of Pediatric Genetics, Marmara University Medical School, Istanbul and Eastern Mediterranean University, Mersin, Turkey.
  • Foster A; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • González NG; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
  • Huber I; Unit Hospital Universitario Central de Asturias, Oviedo, Spain.
  • Iascone M; Sørland Hospital, Kristiansand, Norway.
  • Kaiser AS; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Kamath A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Kooblall K; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Lapunzina P; Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  • Liebelt J; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
  • Lynch SA; South Australian Clinical Genetics Services, Women's and Children's Hospital, North Adelaide, Australia.
  • Maas SM; UCD Academic Centre on Rare Diseases, School of Medicine and Medical Sciences, University College Dublin, and Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland.
  • Mammì C; Department of Clinical Genetics, Academic Medical Center, Amsterdam, Netherlands.
  • Mathijssen IB; Unità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
  • McKee S; Department of Clinical Genetics, Academic Medical Center, Amsterdam, Netherlands.
  • Mirzaa GM; Northern Ireland Regional Genetics Service, Belfast Health and Social Care Trust, Belfast, UK.
  • Montgomery T; Center for Integrative Brain Research, Seattle Children's Research Institute, and Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA, USA.
  • Neubauer D; Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Neumann TE; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Pintomalli L; Mitteldeutscher Praxisverbund Humangenetik, Halle, Germany.
  • Pisanti MA; Unità Operativa di Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.
  • Plomp AS; Medical Genetic and Laboratory Unit, "Antonio Cardarelli" Hospital, Naples, Italy.
  • Price S; Department of Clinical Genetics, Academic Medical Center, Amsterdam, Netherlands.
  • Salter C; Department of Clinical Genetics, Northampton General Hospital NHS Trust, Northampton, UK.
  • Santos-Simarro F; Wessex Clinical Genetics Service, Princess Ann Hospital, Southampton, UK.
  • Sarda P; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
  • Schanze D; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France.
  • Segovia M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Shaw-Smith C; CENAGEM, Centro Nacional de Genética, Buenos Aires, Argentina.
  • Smithson S; Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Suri M; University Hospitals Bristol NHS Trust, Bristol, UK.
  • Tatton-Brown K; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Tenorio J; Division of Genetics and Epidemiology, Institute of Cancer Research, London and South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, UK.
  • Thakker RV; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Universidad Autónoma de Madrid, and CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
J Intellect Disabil Res ; 64(12): 956-969, 2020 12.
Article in En | MEDLINE | ID: mdl-33034087
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Speech Disorders / Abnormalities, Multiple / Bone Diseases, Developmental / Craniofacial Abnormalities / Septo-Optic Dysplasia / Mental Disorders / Intellectual Disability Type of study: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: J Intellect Disabil Res Journal subject: TRANSTORNOS MENTAIS Year: 2020 Type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Speech Disorders / Abnormalities, Multiple / Bone Diseases, Developmental / Craniofacial Abnormalities / Septo-Optic Dysplasia / Mental Disorders / Intellectual Disability Type of study: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: J Intellect Disabil Res Journal subject: TRANSTORNOS MENTAIS Year: 2020 Type: Article Affiliation country: Netherlands