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المؤلفون: Philippe Paquier

المساهمون: Braam, W, Duinen-maas, Mj Van, Festen, Dam, Gelderen, I Van, Huisman, Sa, Tonino, Mam, Taal- en Letterkunde, Centrum voor Linguistiek

المصدر: Vrije Universiteit Brussel
Medische zorg voor patiënten met een verstandelijke beperking / Braam, W. [edit.]; eta l.

مصطلحات موضوعية: kinderen, Neurogenic speech/language disorders, Human medicine, Taal(ontwikkelings)stoornissen, Spraak(ontwikkelings)stoornissen, Children

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::be8f665f603b13994027e8cd24dbe773
https://researchportal.vub.be/en/publications/9c075601-6fdb-4c6c-8876-9e5f2d16d426

المؤلفون: Huynh TN; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Delagrammatikas CG; Director of Research, Malan Syndrome Foundation, Old Bridge, NJ, USA., Chiriatti L; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146, Rome, Italy., Panfili A; Scientific Directorate, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Ventarola K; Malan Syndrome Foundation, Old Bridge, NJ, USA., Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146, Rome, Italy., Huisman SA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. s.a.huisman@amsterdamumc.nl.; Zodiak, Prinsenstichting, 1444 JE, Purmerend, The Netherlands. s.a.huisman@amsterdamumc.nl., Priolo M; Operative Unit of Medical Genetics and Laboratory of Genetics, AORN A.Cardarelli, Via Cardarelli 9, 80131, Naples, Italy. manuela.priolo@aocardarelli.it.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 29; Vol. 19 (1), pp. 282. Date of Electronic Publication: 2024 Jul 29.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/epidemiology, Humans ; Adult ; Female ; Male ; Young Adult ; Middle Aged ; Cross-Sectional Studies ; Sotos Syndrome ; Surveys and Questionnaires ; Adolescent

المؤلفون: Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada., Bout HJ; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, 1105 Amsterdam, AZ, the Netherlands., Schijns JM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, 1105 Amsterdam, AZ, the Netherlands., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada., Bhai P; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada., Jenkins ZA; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Williams EM; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Huisman SA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, 1105 Amsterdam, AZ, the Netherlands; Zodiak, Prinsenstichting, Purmerend, JE 1444, the Netherlands., Lauffer P; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam 1105 AZ, the Netherlands., de Waard V; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam Cardiovascular Sciences, Amsterdam, AZ 1105, the Netherlands., Witteveen L; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, 1105 Amsterdam, AZ, the Netherlands., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Brady AF; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow HA1 3UJ, UK., Galazzi E; Department of Endocrine & Metabolic Diseases, San Luca Hospital, IRCCS Istituto Auxologico Italiano, 20100 Milan, Italy., van Gils J; Centre Hospitalier Universitaire Bordeaux, 33404 Bordeaux, France., Hurst ACE; Department of Genetics, University of Alabama, Birmingham, AL 35294-0024, USA., Kaiser FJ; Institute of Human Genetics, University of Duisburg-Essen, 45122 Essen, Germany; Center for Rare Diseases, University Hospital Essen, 45122 Essen, Germany., Lacombe D; Centre Hospitalier Universitaire Bordeaux, 33404 Bordeaux, France., Martinez-Monseny AF; Genètica Clínica, Servei de Medicina Genètica i Molecular, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Fergelot P; Centre Hospitalier Universitaire Bordeaux, 33404 Bordeaux, France., Monteiro FP; Alameda dos Maracatins, Indianópolis, São Paulo 1435, Brazil., Parenti I; Institute of Human Genetics, University of Duisburg-Essen, 45122 Essen, Germany., Persani L; Department of Endocrine & Metabolic Diseases, San Luca Hospital, IRCCS Istituto Auxologico Italiano, 20100 Milan, Italy; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20100 Milan, Italy., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma, Spain., Simpson BN; Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, OH 45206, USA., Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam 1105 AZ, the Netherlands., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca., Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, 1105 Amsterdam, AZ, the Netherlands. Electronic address: l.a.menke@amsterdamumc.nl.

مؤلفون مشاركون: MKHK Research Consortium

المصدر: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100287. Date of Electronic Publication: 2024 Mar 29.

نوع المنشور: Journal Article

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

مواضيع طبية MeSH: DNA Methylation*/genetics , CREB-Binding Protein*/genetics , E1A-Associated p300 Protein*/genetics, Humans ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Phenotype ; Young Adult ; Rubinstein-Taybi Syndrome/genetics ; Mutation ; Protein Domains/genetics

المؤلفون: van der Laan L; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Lauffer P; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Silva A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Trajkova S; Department of Medical Sciences, University of Torino, Torino, Italy., Huisman SA; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Zodiak, Prinsenstichting, Purmerend, the Netherlands., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Baysal Ö; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Zweier C; Department of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany; Department of Human Genetics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain., Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Dresden, Germany., Szakszon K; Institute of Paediatrics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary., Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD «Génétique des Anomalies du Développement», FHUTRANSLAD, Dijon, France; CHU Dijon Bourgogne, Centre de Génétique, Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs», FHU-TRANSLDAD, Dijon, France., Piton A; Genetic Diagnosis Laboratories, Strasbourg University Hospital, Strasbourg 67000, France., Mesman S; Swammerdam Institute for Life Sciences, FNWI, University of Amsterdam, Amsterdam, the Netherlands., Hochstenbach R; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Elting MW; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Plomp AS; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Mannens MMAM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Alders M; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., van Haelst MM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy., Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy., Henneman P; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands., Sweetser DA; Division of Medical Genetics and Metabolism and Center for Genomic Medicine, Massachusetts General for Children, Boston, MA, USA., Sadikovic B; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Menke LA; Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam, the Netherlands. Electronic address: l.a.menke@amsterdamumc.nl.

المصدر: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100289. Date of Electronic Publication: 2024 Apr 02.

نوع المنشور: Journal Article

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

مواضيع طبية MeSH: Transcription Factor 4*/genetics , Hyperventilation*/genetics , Hyperventilation*/diagnosis , Intellectual Disability*/genetics , Intellectual Disability*/diagnosis , DNA Methylation*, Humans ; Female ; Male ; Child ; Facies ; Adolescent ; Epigenomics/methods ; Epigenesis, Genetic ; Hyperkinesis/genetics ; Child, Preschool ; Adult ; Young Adult

SCR Disease Name: Pitt-Hopkins syndrome

المؤلفون: Lacombe D; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France didier.lacombe@chu-bordeaux.fr., Bloch-Zupan A; Faculté de Chirurgie Dentaire, Université de Strasbourg, and Centre de référence des maladies rares orales et dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, and Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, Illkirch, France., Bredrup C; Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway., Cooper EB; Department of Anesthesiology, Cincinnati Children's Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway and Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34010 Istanbul, Turkey., Larizza L; Laboratorio di Ricerca in Citogenetica medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Milano, Italy., Lopez Gonzalez V; Department of Pediatrics, Medical Genetics Section, Virgen de la Arrixaca University Hospital, IMIB, CIBERER, Murcia, Spain., Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Milani D; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy., Saettini F; Fondazione Matilde Tettamanti Menotti De Marchi Onlus, Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA., Tooke L; Department of Pediatrics, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa., Van der Zee JA; Department of Pediatric Urology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist and Department of Ophthalmology, University Medical Center Utrecht, Utrecht, Netherlands., Van-Gils J; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France., Waite J; School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK., Adrien JL; Université de Paris, Laboratoire de Psychopathologie et Processus de Santé, Boulogne Billancourt, France., Bartsch O; MVZ - Humangenetik, University Medical Center, Johannes Gutenberg University Mainz, 55131 Mainz, Germany., Bitoun P; Département de Genetique, SIDVA 91, Juvisy-sur-Orge, France., Bouts AHM; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Cueto-González AM; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Dominguez-Garrido E; Molecular Diagnostics Laboratory, Fundacion Rioja Salud, La Rioja, Spain., Duijkers FA; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Fergelot P; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France., Halstead E; Psychology and Human Development Department, University College London, London, UK., Huisman SA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Zodiak, Prinsenstichting, Purmerend, Netherlands., Meossi C; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy., Mullins J; Rubinstein-Taybi Syndrome Support Group, Registered Charity, Rickmansworth, UK., Nikkel SM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Oliver C; School of Psychology, University of Birmingham, Edgbaston, UK., Prada E; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy., Rei A; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy., Riddle I; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA., Rodriguez-Fonseca C; Asociación Española para el Sindrome de Rubinstein-Taybi (AESRT), Madrid, Spain., Rodríguez Pena R; Immunology, Hospital Universitario La Paz, IdiPaz, Madrid, Spain., Russell J; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy., Saba A; French RTS Support Group, Paris, France., Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, Cincinnati School of Medicine, Cincinnati, Ohio, USA., Smith DF; Department of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, and Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Stevens MF; Department of Anesthesiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Szakszon K; Institution of Pediatrics, University of Debrecen Clinical Centre, Debrecen, Hungary., Taupiac E; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France., Totaro N; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy., Valenzuena Palafoll I; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Van Der Kaay DCM; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands., Van Wijk MP; Department of Pediatric Gastroenterology, Emma Children's Hospital, Amsterdam UMC, University Amsterdam, Amsterdam, Netherlands., Vyshka K; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Robert Debré University Hospital, Paris, France., Wiley S; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA., Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

المصدر: Journal of medical genetics [J Med Genet] 2024 May 21; Vol. 61 (6), pp. 503-519. Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Rubinstein-Taybi Syndrome*/genetics , Rubinstein-Taybi Syndrome*/diagnosis , Rubinstein-Taybi Syndrome*/therapy , CREB-Binding Protein*/genetics , E1A-Associated p300 Protein*/genetics, Humans ; Consensus ; Disease Management ; Mutation

المؤلفون: Koppen IJN; Department of Pediatric Gastroenterology and Nutrition, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Westra WM; Department of Gastroenterology and Hepatology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Gastroenterology and Hepatology, Meander Medisch Centrum, Amersfoort, The Netherlands., Struik F; Department of Radiology and Nuclear Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Mesman S; Swammerdam Institute for Life Sciences, FNWI, University of Amsterdam, Amsterdam, The Netherlands., van Wijk MP; Department of Pediatric Gastroenterology and Nutrition, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Huisman SA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Zodiak, Prinsenstichting, Purmerend, The Netherlands.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Mar; Vol. 191 (3), pp. 855-858. Date of Electronic Publication: 2022 Dec 13.

نوع المنشور: Case Reports

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*/diagnosis , Gastrointestinal Diseases*/complications, Humans ; Transcription Factor 4/genetics ; Mutation ; Hyperventilation/complications ; Hyperventilation/diagnosis ; Hyperventilation/genetics ; Facies

SCR Disease Name: Pitt-Hopkins syndrome

المؤلفون: Pablo MJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain., Pamplona P; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, Miguel Servet University Hospital, Zaragoza, Spain., Haddad M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, Miguel Servet University Hospital, Zaragoza, Spain., Benavente I; Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain., Latorre-Pellicer A; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Arnedo M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Trujillano L; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Bueno-Lozano G; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', Growth, Exercise, Nutrition and Development (GENUD) Research Group, Zaragoza, Spain., Kerr LM; Division of Pediatric Neurology, Department of Paediatrics, University of Utah Health, Salt Lake City, UT, USA., Huisman SA; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.; Prinsenstichting, Purmerend, The Netherlands., Kaiser FJ; Institute of Human Genetics, University Hospital Essen University of Duisburg-Essen, Essen, Germany., Ramos F; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Kline AD; Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA., Pie J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. juanpie@unizar.es., Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. puisac@unizar.es.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 30; Vol. 16 (1), pp. 458. Date of Electronic Publication: 2021 Oct 30.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: De Lange Syndrome*/genetics, Autonomic Nervous System ; Cell Cycle Proteins/genetics ; Humans ; Mutation/genetics ; Phenotype

المؤلفون: de Wert LA; Department of Surgery, Amphia Hospital, Breda, Netherlands., Huisman SA; Department of Surgery, Amphia Hospital, Breda, Netherlands., Imani F; Department of Radiology, Amphia Hospital, Breda, Netherlands., de Gooyer DJ; Department of Oncology, Bravis Hospital, Roosendaal/Bergen op Zoom, Netherlands., van Riel JMGH; Department of Oncology, ETZ Elisabeth Hospital, Tilburg, Netherlands., Gobardhan PD; Department of Surgery, Amphia Hospital, Breda, Netherlands., Rijken AM; Department of Surgery, Amphia Hospital, Breda, Netherlands.

المصدر: Case reports in surgery [Case Rep Surg] 2021 Apr 03; Vol. 2021, pp. 6676109. Date of Electronic Publication: 2021 Apr 03 (Print Publication: 2021).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 101580191 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6900 (Print) NLM ISO Abbreviation: Case Rep Surg Subsets: PubMed not MEDLINE