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المؤلفون: Ilan J. N. Koppen, Leonie A. Menke, Wytske M. Westra, Femke Struik, Simone Mesman, Michiel P. van Wijk, Sylvia A. Huisman
المساهمون: SILS Other Research (FNWI), Molecular Neuroscience (SILS, FNWI), General Paediatrics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Gastroenterology and Hepatology, Graduate School, CCA - Cancer biology and immunology, CCA - Imaging and biomarkers, Radiology and Nuclear Medicine, Paediatric Genetics, Paediatric Pulmonology, Pediatrics, Radiology and nuclear medicine
المصدر: American Journal of Medical Genetics. Part A, 191(3), 855-858. Wiley-Liss Inc.
Koppen, I J N, Menke, L A, Westra, W M, Struik, F, Mesman, S, van Wijk, M P & Huisman, S A 2022, ' Fatal gastrointestinal complications in Pitt-Hopkins syndrome ', American Journal of Medical Genetics, Part A . https://doi.org/10.1002/ajmg.a.63079
American journal of medical genetics. Part A. Wiley-Liss Inc.
American Journal of Medical Genetics, Part A. Wiley-Liss Inc.مصطلحات موضوعية: Genetics & Heredity, Science & Technology, pitt-hopkins, constipation, PERFORATION, aerophagia, tcf4, bloating, volvulus, Genetics, AEROPHAGIA, Life Sciences & Biomedicine, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Sylvia A. Huisman, Fanny Mochel, Christel Depienne, Roberto Canitano, Sara S. Cathey, Kimberly Nugent, Konrad Platzer, Katherine L. Helbig, Deepali N. Shinde, Diego Lopergolo, Sandra Yang, Francesca Mari, Astrid S. Plomp, Berten Ceulemans, Sarah Weckhuysen, Agnès Rastetter, Nadja Ehmke, Julien Thevenon, Rami Abou Jamra, Elisa Benetti, Daniela del Gaudio, Elizabeth Roeder, Darrel Waggoner, Raymond J. Louie, Shawn Kacker, Manuel Holtgrewe, Alessandra Renieri, Susanne B. Kamphausen, Denise Horn, Ange Line Bruel, Carine Dalle, Quinten Waisfisz, Frank J. Kaiser, Golder N. Wilson
المساهمون: Human genetics, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Human Genetics, Paediatric Genetics
المصدر: Brain, 143(12), 3564-3573
Brain, 143(12), 3564-3573. Oxford University Press
Mochel, F, Rastetter, A, Ceulemans, B, Platzer, K, Yang, S, Shinde, D N, Helbig, K L, Lopergolo, D, Mari, F, Renieri, A, Benetti, E, Canitano, R, Waisfisz, Q, Plomp, A S, Huisman, S A, Wilson, G N, Cathey, S S, Louie, R J, Del Gaudio, D, Waggoner, D, Kacker, S, Nugent, K M, Roeder, E R, Bruel, A L, Thevenon, J, Ehmke, N, Horn, D, Holtgrewe, M, Kaiser, F J, Kamphausen, S B, Abou Jamra, R, Weckhuysen, S, Dalle, C & Depienne, C 2020, ' Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders ', Brain, vol. 143, no. 12, pp. 3564-3573 . https://doi.org/10.1093/brain/awaa346مصطلحات موضوعية: Male, 0301 basic medicine, Patch-Clamp Techniques, Movement disorders, Small-Conductance Calcium-Activated Potassium Channels, Medizin, Haploinsufficiency, 0302 clinical medicine, Missense mutation, Exome, Child, Frameshift Mutation, Exome sequencing, Genetics, Movement Disorders, Learning Disabilities, Middle Aged, Magnetic Resonance Imaging, White Matter, developmental delay, Child, Preschool, medicine.symptom, SK2 channel, KCNN2, ataxia, tremor, Adolescent, Adult, Cerebellar Ataxia, Electrophysiological Phenomena, Genetic Variation, Humans, Intellectual Disability, Mutation, Missense, Neurodevelopmental Disorders, Young Adult, Ataxia, Biology, Frameshift mutation, 03 medical and health sciences, medicine, Preschool, Cerebellar ataxia, 030104 developmental biology, Mutation, Neurology (clinical), Missense, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b551b10bc02401ad4456584c23c15da4
https://doi.org/10.1093/brain/awaa346 -
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المؤلفون: Juan Pié, Lynne M. Kerr, Antonie D. Kline, Beatriz Puisac, Sylvia A. Huisman, Feliciano J. Ramos, María Teresa Echeverría Arnedo, Isabel Benavente, Pilar Pamplona, Ana Latorre-Pellicer, Maria Haddad, Maria Jesus Pablo, Gloria Bueno-Lozano, Frank J. Kaiser, Laura Trujillano
المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)مصطلحات موضوعية: Premature aging, Small fiber nerve, medicine.medical_specialty, Cornelia de Lange Syndrome, Peripheral neuropathy, Medizin, Cell Cycle Proteins, Sudomotor test, Sweat gland density, Autonomic Nervous System, Autonomic neuropathy, Internal medicine, De Lange Syndrome, medicine, Humans, Pharmacology (medical), Genetics (clinical), CdLS, NIPBL gene, business.industry, Research, General Medicine, medicine.disease, Somatic nervous system, Sudomotor, Autonomic nervous system, medicine.anatomical_structure, Phenotype, Peripheral nervous system, Mutation, Cardiology, Medicine, business, Sensory nerve
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::185b1e91837fb1c13315b8e785970085
https://doi.org/10.21203/rs.3.rs-534763/v1 -
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المؤلفون: Chris Oliver, Anna Cereda, Julia O'Connor, Claudia Rigamonti, Ingrid D. C. van Balkom, Whitney Guthrie, David R. FitzPatrick, Paul A. Mulder, Angell Shi, Sylvia A. Huisman, Stacey L. Ishman, Matthew A. Deardorff, Lynne M. Kerr, Sigrid Piening, Joseph P. McCleery, Valérie Cormier-Daire, Peter M. Gillett, David Axtell, Antonella Costantino, Egbert J.W. Redeker, Carol J. Potter, Alex V. Levin, Angelo Selicorni, Raoul C.M. Hennekam, Natalie Blagowidow, Marco A. Grados, Mary Levis, Feliciano J. Ramos, Frank J. Kaiser, Zeynep Tümer, Joanna Moss, Juan Pié, Gerritjan Koekkoek, Laura Groves, Milena Mariani, Paola Francesca Ajmone, Amy Metrena, Ana L. Quaglio, Anne Marie Bisgaard, Leonie A. Menke, Jolanta Wierzba, Antonie D. Kline, David M. Richman
المصدر: Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tumer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews Genetics, vol. 19, no. 10, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0
Nature Reviews. Genetics
Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tümer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews. Genetics, vol. 19, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, Genetic testing, Cornelia de Lange Syndrome, Genetic syndromes, Cohesin complex, Statement (logic), BRACHMANN-DELANGE-SYNDROME, Signs and symptoms, Biology, 03 medical and health sciences, De Lange Syndrome, Intellectual disability, Genetics, medicine, Humans, Clinical genetics, Psychiatry, Molecular Biology, Genetic Association Studies, Genetics (clinical), GENOTYPE-PHENOTYPE CORRELATIONS, Genetic counselling, Disease genetics, AUTISM SPECTRUM DISORDER, Medical genetics, Consensus Statement, SELF-INJURIOUS-BEHAVIOR, High-Throughput Nucleotide Sequencing, Molecular diagnostics, medicine.disease, CONGENITAL DIAPHRAGMATIC-HERNIA, 030104 developmental biology, DU-CHAT-SYNDROMES, OF-THE-LITERATURE, AUTOSOMAL-DOMINANT INHERITANCE, Mutation, Marked heterogeneity, RUBINSTEIN-TAYBI SYNDROMES, TO-MALE TRANSMISSION
وصف الملف: application/pdf
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المؤلفون: Michael J. Parker, Francisco Martínez, Paul A. Mulder, Lianne C. Krab, Shane McKee, Meena Balasubramanian, Melissa Assaf, Iñigo Marcos-Alcalde, Leonie A. Menke, Sanna Gudmundsson, Marwan Shinawi, Emanuela Scarano, Oliver Murch, Raoul C.M. Hennekam, David R. FitzPatrick, Paulino Gómez-Puertas, Feliciano J. Ramos, Janne Bayer Andersen, Jill A. Rosenfeld Mokry, Tugba Kalayci, Saskia M. Maas, Anne Marie Bisgaard, Sylvia A. Huisman, Juan Pié, Claudine Rieubland, Zeynep Tümer
المساهمون: Ministerio de Ciencia, Innovación y Universidades (España), Paediatric Genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Human Genetics, General Paediatrics, Amsterdam Reproduction & Development (AR&D), Graduate School, APH - Quality of Care
المصدر: Krab, L C, Marcos-Alcalde, I, Assaf, M, Balasubramanian, M, Andersen, J B, Bisgaard, A M, Fitzpatrick, D R, Gudmundsson, S, Huisman, S A, Kalayci, T, Maas, S M, Martinez, F, McKee, S, Menke, L A, Mulder, P A, Murch, O D, Parker, M, Pie, J, Ramos, F J, Rieubland, C, Rosenfeld Mokry, J A, Scarano, E, Shinawi, M, Gómez-Puertas, P, Tümer, Z & Hennekam, R C 2020, ' Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 ', Human Genetics, vol. 139, pp. 575-592 . https://doi.org/10.1007/s00439-020-02138-2
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
Human Genetics
Digital.CSIC. Repositorio Institucional del CSIC
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Human genetics, 139(5), 575-592. Springer Verlag
HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Feمصطلحات موضوعية: Male, Mungan syndrome, Genotype-phenotype correlation, Protein Conformation, 8Q24, Cell Cycle Proteins, NIPBL, 0302 clinical medicine, Holoprosencephaly, De Lange Syndrome, Genotype, Child, Genetics (clinical), Original Investigation, Genetics, 0303 health sciences, Middle Aged, Phenotype, DNA-Binding Proteins, DE-LANGE-SYNDROME, CORNELIA, Child, Preschool, Female, Chromosome Deletion, Medical Genetics, Adult, Cornelia de Lange Syndrome, Adolescent, Cohesin complex, ORGANIZATION, Molecular Dynamics Simulation, SMC1A, Biology, PATIENT, Young Adult, 03 medical and health sciences, Cohesinopathy, medicine, Humans, RAD21, Genetic Association Studies, Medicinsk genetik, 030304 developmental biology, IDENTIFICATION, Cohesin, MUTATIONS, Infant, Newborn, Infant, medicine.disease, GENE, Cornelia de Lange syndrome, GIEDION, Mutation, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Raoul C.M. Hennekam, Sigrid Piening, Ingrid D. C. van Balkom, Paul A. Mulder, Sylvia A. Huisman, Chris Oliver
المصدر: Developmental medicine and child neurology. 59(4):361-366
مصطلحات موضوعية: Cornelia de Lange Syndrome, media_common.quotation_subject, MEDLINE, Context (language use), Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Developmental Neuroscience, De Lange Syndrome, medicine, Humans, 0501 psychology and cognitive sciences, Quality (business), media_common, Mental Disorders, 05 social sciences, Cognition, medicine.disease, Databases, Bibliographic, Pediatrics, Perinatology and Child Health, Assessment methods, Quality of Life, Autism, Neurology (clinical), Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology
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المؤلفون: Blake D. Hansen, Sylvia A. Huisman, Lynne M. Kerr, Ian D. Krantz, Matthew A. Deardorff, Jason A. Mills, Alena Egense, Jeremy Morgan, Meng Wu, Dale Dorsett, Devanshi Mehta, Olivia L. Katz, Katsuhiko Shirahige, Sarah E. Noon, Chiara Bettale, Pamela S. Herrera, Richard E. Haaland, Joseph P. McCleery, Antonie D. Kline, Cheri S. Carrico, Jo Moss, Siddharth Srivastava, Emily Taylor-Snell, Jennifer L. Gerton, Marco A. Grados, Antonio Musio, Anne L. Calof, Julia A. Horsfield
المساهمون: Amsterdam Neuroscience - Complex Trait Genetics, Other departments
المصدر: American journal of medical genetics. Part A, 173(5), 1172-1185. Wiley-Liss Inc.
مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.medical_specialty, Cornelia de Lange Syndrome, Cohesin complex, Genetic counseling, Diagnostic test, medicine.disease, Medical care, Article, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, medicine, Autism, Psychiatry, Genetics (clinical)
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المؤلفون: Sylvia A. Huisman, Raoul C.M. Hennekam, Brenda M. Wiedijk, Agnies M. van Eeghen, A S Paul van Trotsenburg
المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, APH - Quality of Care, Paediatric Endocrinology, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Reproduction & Development (AR&D), APH - Personalized Medicine, APH - Aging & Later Life, General Practice, Pediatrics, Pediatric surgery
المصدر: Journal of pediatric endocrinology & metabolism, 32(8), 903-905. Walter de Gruyter GmbH
Huisman, S A, Wiedijk, B M, van Eeghen, A M, Hennekam, R C & van Trotsenburg, A S P 2019, ' Thyroid function in males with fragile X syndrome ', Journal of Pediatric Endocrinology and Metabolism, vol. 32, no. 8, pp. 903-905 . https://doi.org/10.1515/jpem-2019-0224
Journal of Pediatric Endocrinology & Metabolism, 32(8), 903-905. De Gruyter
Journal of Pediatric Endocrinology and Metabolism, 32(8), 903-905. Walter de Gruyter GmbHمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Thyroid Gland, Thyrotropin, Comorbidity, Thyroid Function Tests, Cohort Studies, Young Adult, Endocrinology, Hypothyroidism, Endocrinology diabetology, medicine, Humans, Aged, Aged, 80 and over, business.industry, Middle Aged, medicine.disease, Fragile X syndrome, Thyroxine, Fragile X Syndrome, Pediatrics, Perinatology and Child Health, Thyroid function, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93fb6e22595a79c10b18d8b5d0029438
https://pure.amc.nl/en/publications/thyroid-function-in-males-with-fragile-x-syndrome(285f271e-b883-4ea8-b15d-03f1c2557907).html -
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المؤلفون: David A. Sweetser, S.R.J.M. Deckers, Marina Macchiaiolo, Jannine D. Cody, Dagmar R J Kempink, Sarah H. Elsea, Carol J Saunders, Ronald L. Thibert, Emilia K. Bijlsma, Marcella Zollino, Channa F. de Winter, Agnieszka Stembalska, Vittoria Lamacchia, Anusha Gandhi, Ingrid Benoist, Sandra Whalen, Ann Nordgren, Giuseppe Marangi, Frea H. Kruisinga, Leonie A. Menke, Joseph T. Alaimo, Alessandra Renieri, Sylvia A. Huisman, Jill Clayton-Smith, Sue Routledge, Robert Smigiel, Ingrid D. C. van Balkom, Christiane Zweier, Hans van Balkom, Paul A. Mulder, Irina Giurgea, Raoul C.M. Hennekam
المساهمون: Orthopedics and Sports Medicine, Fondazione Policlinico Universitario A. Gemelli [Rome] (FPUAG), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Lentis Psychiatric Institute [Groningen, The Netherlands] (LPI), University Medical Center Groningen [Groningen] (UMCG), Massachusetts General Hospital [Boston, MA, USA], Harvard Medical School [Boston] (HMS), Baylor College of Medicine (BCM), Baylor University, Leiden University Medical Center (LUMC), University of Texas Health Science Center at San Antonio [San Antonio, Tx, USA], Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Bambino Gesù Children’s Hospital [Rome, Italy], Wrocław Medical University, Dutch Pitt-Hopkins Syndrome Foundation [Oosterhout, The Netherlands] (DPHSF), University of Manchester [Manchester], Organisation for Individuals with Intellectual Disabilities [Zwolle, The Netherlands] (O2ID), Trajectum [Zwolle, The Netherlands], Radboud University [Nijmegen], Amsterdam UMC - Amsterdam University Medical Center, Eramus MC-Sophia Children’s Hospital, Partenaires INRAE, Università degli Studi di Siena = University of Siena (UNISI), Karolinska University Hospital [Stockholm], Pitt Hopkins UK [Ilford, UK] (PH), Children's Mercy Hospital [Kansas City], Couvet, Sandrine
المصدر: Clinical Genetics, 95, 4, pp. 462-478
Clinical Genetics, 95, 462-478
Clinical Genetics, 95(4), 462-478. WILEY
Clinical Genetics, 95(4), 462-478. Wiley-Blackwell Publishing Ltd
Clinical Genetics
Clinical Genetics, 2019, 95 (4), pp.462-478. ⟨10.1111/cge.13506⟩مصطلحات موضوعية: 0301 basic medicine, Statement (logic), [SDV]Life Sciences [q-bio], autonomic dysfunction, Pitt–Hopkins syndrome, 030105 genetics & heredity, Settore MED/03 - GENETICA MEDICA, Health problems, HELIX TRANSCRIPTION FACTOR, Neurodevelopmental disorder, Transcription Factor 4, Intellectual disability, Diagnosis, Hyperventilation, guidelines, syndromic behavior, Genetics (clinical), Age Factors, Disease Management, PEDIATRIC GASTROENTEROLOGY, CLINICAL SCORE, Combined Modality Therapy, EUROPEAN-SOCIETY, [SDV] Life Sciences [q-bio], Phenotype, CENTRAL SLEEP-APNEA, FACTOR E2-2, Disease Susceptibility, medicine.medical_specialty, diagnostic criteria, molecular diagnostic pathway, Pitt-Hopkins syndrome, TCF4, Genetics, Learning and Plasticity, Diagnosis, Differential, Facies, Genetic Testing, Humans, Intellectual Disability, Mutation, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 03 medical and health sciences, International literature, medicine, Psychiatry, business.industry, TCF4 GENE, DELETION, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Differential, business, MENTAL-RETARDATION
وصف الملف: application/pdf
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المؤلفون: Wim Klootwijk, Marco Medici, Robin P. Peeters, Theo J. Visser, K. Herman de Waal, Erik Boot, W. Edward Visser, Gerda de Kuijper, Henk Goeman, Chantal Zevenbergen, Sylvia A. Huisman, P. Reed Larsen, Yolanda B. de Rijke, Marcel E Meima
المساهمون: Graduate School, Internal Medicine, Clinical Chemistry, Surgery
المصدر: Journal of clinical endocrinology and metabolism, 99(11), E2429-E2436. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 99(11), E2429-E2436. Endocrine Societyمصطلحات موضوعية: medicine.medical_specialty, Thyroid Hormones, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Deiodinase, DIO2, Context (language use), Biology, medicine.disease_cause, Biochemistry, Iodide Peroxidase, Polymorphism, Single Nucleotide, Endocrinology, Internal medicine, Intellectual Disability, Genetic variation, medicine, Humans, Genetics, Mutation, Biochemistry (medical), Thyroid, medicine.anatomical_structure, biology.protein, Neurocognitive, Hormone
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed43bfb29d1775333b031554b9a23567
http://www.scopus.com/inward/record.url?scp=84910019797&partnerID=8YFLogxK
Find this article in full text from Springer Verlag.