المؤلفون: Dagmar K. Tiemens, Lotte Kleimeier, Erika Leenders, Ellen Wingbermühle, Renee L. Roelofs, Barbara Sibbles, Floor S.M. Oostwegel, Eva Vroonland, Conny van Leeuwen, Hanneke Niessen, Paul Sonnega, Anniek Duursma, Michel A. A. P. Willemsen, Jos M. T. Draaisma, Carina A.C.M. Pittens

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Noonan Syndrome Spectrum Disorders, Rasopathies, Ras/MAPK pathway, ERK1/2, Patient involvement, Clinical guidelines, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8e92a1191a724fcd889347982f848af1

المؤلفون: Dagmar K. Tiemens, Jacqueline Nugteren, Erika Leenders, Ellen Wingbermühle, Carina A. C. M. Pittens, Jos M. Th. Draaisma

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Noonan syndrome spectrum disorders, RAS/MAPK pathway, Patients, Participation, Level of engagement, Research, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c4a5eb2d7b1e4cf9a0053bbdd148cd6d

المؤلفون: Ellen Wingbermühle, Renée L. Roelofs, Wouter Oomens, Jennifer Kramer, Jos M. T. Draaisma, Erika Leenders, Tjitske Kleefstra, Roy P. C. Kessels, Jos I. M. Egger

المصدر: Journal of Clinical Medicine; Volume 11; Issue 16; Pages: 4735

مصطلحات موضوعية: RASopathies, genetic disorders, cognition, cognitive phenotyping, contextual neuropsychology, psychopathology, social cognition, behavior

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm11164735

الاتاحة: https://doi.org/10.3390/jcm11164735

المؤلفون: Lotte E. R. Kleimeier, Caroline van Schaik, Erika Leenders, Maxim Itkin, Willemijn M. Klein, Jos M. T. Draaisma

المصدر: Journal of Clinical Medicine; Volume 11; Issue 11; Pages: 3128

مصطلحات موضوعية: Noonan Syndrome, lymphatic disease, dynamic contrast-enhanced MR lymphangiography, central conducting lymphatic anomaly

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm11113128

الاتاحة: https://doi.org/10.3390/jcm11113128

المؤلفون: Dagmar K. Tiemens, Leenke van Haaften, Erika Leenders, Annemiek M. J. van Wegberg, Bregtje Gunther Moor, Joyce Geelen, Jos M. T. Draaisma

المصدر: Journal of Clinical Medicine; Volume 11; Issue 3; Pages: 754

مصطلحات موضوعية: Noonan syndrome, Noonan syndrome spectrum disorder, pediatric feeding disorder, gastroesophageal reflux disorder, increased energy demand

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm11030754

الاتاحة: https://doi.org/10.3390/jcm11030754

المؤلفون: Christina Lissewski, Valérie Chune, Francesca Pantaleoni, Alessandro De Luca, Yline Capri, Julia Brinkmann, Francesca Lepri, Paola Daniele, Erika Leenders, Laura Mazzanti, Emanuela Scarano, Francesca Clementina Radio, Kerstin Kutsche, Alma Kuechler, Marion Gérard, Kara Ranguin, Marine Legendre, Yoann Vial, Ineke van der Burgt, Tuula Rinne, Elena Andreucci, Gioia Mastromoro, Maria Cristina Digilio, Hélène Cave, Marco Tartaglia, Martin Zenker

المساهمون: Lissewski, Christina, Chune, Valérie, Pantaleoni, Francesca, De Luca, Alessandro, Capri, Yline, Brinkmann, Julia, Lepri, Francesca, Daniele, Paola, Leenders, Erika, Mazzanti, Laura, Scarano, Emanuela, Clementina Radio, Francesca, Kutsche, Kerstin, Kuechler, Alma, Gérard, Marion, Ranguin, Kara, Legendre, Marine, Vial, Yoann, van der Burgt, Ineke, Rinne, Tuula, Andreucci, Elena, Mastromoro, Gioia, Cristina Digilio, Maria, Cave, Hélène, Tartaglia, Marco, Zenker, Martin

مصطلحات موضوعية: Noonan syndrome, SOS2, lymphatic system

Relation: info:eu-repo/semantics/altIdentifier/pmid/32788663; info:eu-repo/semantics/altIdentifier/wos/WOS:000559365600002; volume:29; issue:1; firstpage:51; lastpage:60; numberofpages:10; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11573/1669254; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089311939

الاتاحة: https://hdl.handle.net/11573/1669254
https://doi.org/10.1038/s41431-020-00708-6

المؤلفون: Aafke Engwerda, Maarten P. van den Berg, Wilhelmina S. Kerstjens-Frederikse, Yvonne J. Vos, Bert B.A. de Vries, Tuula Rinne, Marc T R Roofthooft, Paulien A Terhal, Patrick Deelen, Conny M. A. van Ravenswaaij-Arts, Barbara Frentz, Katharina Löhner, Trijnie Dijkhuizen, Erika Leenders

المساهمون: Cardiovascular Centre (CVC), Clinical Cognitive Neuropsychiatry Research Program (CCNP)

المصدر: European Journal of Human Genetics, 29, 1669-1676. Nature Publishing Group
Eur J Hum Genet

مصطلحات موضوعية: Joint Instability, CONGENITAL HEART-DEFECTS, Pathology, medicine.medical_specialty, TAK1, Heart Valve Diseases, Cardiomyopathy, GROWTH FAILURE, Dwarfism, Disease, Short stature, Article, Mitral valve, Genetics, medicine, Humans, MICRODELETION, DYSPLASIA, Genetics (clinical), Exome sequencing, Adaptor Proteins, Signal Transducing, business.industry, Syndrome, medicine.disease, Phenotype, DELINEATION, medicine.anatomical_structure, Mitral Valve, Noonan syndrome, Chromosomes, Human, Pair 6, medicine.symptom, Cardiomyopathies, Haploinsufficiency, business, Gene Deletion

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fd540b65f880419358b12d518f7ffd4
https://doi.org/10.1038/s41431-021-00948-0

المؤلفون: Elise A. Ferreira, Annemarijne R.J. Veenvliet, Udo F.H. Engelke, Leo A.J. Kluijtmans, Marleen C.D.G. Huigen, Brechtje Hoegen, Lonneke de Boer, Maaike C. de Vries, Bregje W. van Bon, Erika Leenders, Elisabeth A.M. Cornelissen, Charlotte A. Haaxma, Jolanda H. Schieving, M. Estela Rubio-Gozalbo, Irene M.L.W. Körver-Keularts, Lara M. Marten, Susann Diegmann, Jeroen Mourmans, Alexander J.M. Rennings, Clara D.M. van Karnebeek, Richard J. Rodenburg, Karlien L.M. Coene

المساهمون: Pediatrics, Graduate School, Paediatric Pulmonology, Paediatric Metabolic Diseases, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Genetics in Medicine, 25(1), 125-134. Lippincott Williams and Wilkins
Ferreira, E A, Veenvliet, A R J, Engelke, U F H, Kluijtmans, L A J, Huigen, M C D G, Hoegen, B, de Boer, L, de Vries, M C, van Bon, B W, Leenders, E, Cornelissen, E A M, Haaxma, C A, Schieving, J H, Rubio-Gozalbo, M E, Körver-Keularts, I M L W, Marten, L M, Diegmann, S, Mourmans, J, Rennings, A J M, van Karnebeek, C D M, Rodenburg, R J & Coene, K L M 2023, ' Diagnosing, discarding, or de-VUSsing : A practical guide to (un)targeted metabolomics as variant-transcending functional tests ', Genetics in Medicine, vol. 25, no. 1, pp. 125-134 . https://doi.org/10.1016/j.gim.2022.10.002
Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 125-134
Genetics in Medicine, 25(1), 125-134. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 125-134

مصطلحات موضوعية: Exome sequencing, All institutes and research themes of the Radboud University Medical Center, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Metabolomics, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Inborn errors of metabolism, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Functional test, Genome sequencing, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af089065fb3e1c4e83410f8c0f4dca8
https://pubmed.ncbi.nlm.nih.gov/36350326

المؤلفون: Erika Leenders, Lotte Kleimeier, Jos M. T. Draaisma, Willemijn M. Klein, Julia Sleutjes

المصدر: Mol Syndromol
Molecular Syndromology, 13, 1, pp. 1-11
Molecular Syndromology, 13, 1-11

مصطلحات موضوعية: musculoskeletal diseases, Pathology, medicine.medical_specialty, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Review Article, medicine.disease, Lymphatic abnormality, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Genetics, medicine, Noonan syndrome, business, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25b413a255bf748efff5f0859e4d7dbd
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/249493

المؤلفون: Floris E A Udink Ten Cate, Eefke Vos, Erika Leenders, Jos M. T. Draaisma, Sterre R Werkman

المصدر: Cardiology in the Young, 32, 6, pp. 936-943
Cardiology in the Young, 32, 936-943

مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Short stature, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Electrocardiography, Internal medicine, medicine, Humans, cardiovascular diseases, Retrospective Studies, business.industry, Significant difference, Noonan Syndrome, Genetic disorder, Retrospective cohort study, General Medicine, medicine.disease, Pulmonary Valve Stenosis, Stenosis, Pediatrics, Perinatology and Child Health, Cohort, Cardiology, Noonan syndrome, Left axis deviation, medicine.symptom, Cardiology and Cardiovascular Medicine, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6d415e54f6cf00f81de946b437caac7

المؤلفون: Ian R. Berry, Martin R. Larsen, Ann M. Neumeyer, Lilian Bomme Ousager, Leah J. Rowe, Richard E. Person, Chanika Phornphutkul, David A. Koolen, Constance T. R. M. Stumpel, Konrad Platzer, Elizabeth J. Bhoj, Eric Chater-Diehl, Jason Bunn, Erika Leenders, Koen L.I. van Gassen, Joshua Charkow, Rosanna Weksberg, Ny Hoang, Roos Cuperus, Davor Lessel, Rolph Pfundt, Oana Caluseriu, Sarah J. Goodman, Leandra Folk, Fanggeng Zou, Michelle T. Siu, David Chitayat, Dmitrijs Rots, Jeroen R. Vermeulen, Shuxi Liu, Cheryl Cytrynbaum, Elin Tønne, Hein Brackel, Mareike Mertens, Jennifer Campbell, Jonathan B. Strober, Maja Hempel, Tjitske Kleefstra, Małgorzata J.M. Nowaczyk, Amy Crunk, Marta Pacio-Míguez, Fernando Santos-Simarro, Nicola Brunetti-Pierri, Christa de Geus, María Palomares-Bralo, Lisenka E.L.M. Vissers, Sander Pajusalu, Peter Kannu, Sanaa Choufani, Kristin Lindstrom, Margarita Saenz, Berkley Schmidt, Daniëlle G.M. Bosch, Han G. Brunner, Arie van Haeringen, Ellen van Binsbergen, Brianna Pruniski, Claudia A. L. Ruivenkamp, William G. Wilson, Servi J. C. Stevens, Susan Walker, Kristian Tveten, Zain Awamleh, Gerarda Cappuccio, Alexander J. M. Dingemans, Michael Kwint, Ebba Alkhunaizi, Jonas Denecke, Alyssa Ritter, Eric W. Klee, Bert B.A. de Vries, Jeske V.T. van Harssel, Stephen Meyn, A. Chantal Deden, Francisca Millan, Eva Morava, Ingrid M. Wentzensen, Anne Slavotinek, Stephen W. Scherer, Katrin Õunap, Tuula Rinne, Jessica A. Radley, Yili Xie, Thatjana Gardeitchik, Laura Schultz-Rogers, Karit Reinson, Ronald D. Cohn, Hui Yang

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: DA Klinische Genetica (5), Rots, Dmitrij, Chater-Diehl, Eric, Dingemans, Alexander J M, Goodman, Sarah J, Siu, Michelle T, Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B A, Deden, A Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T R M, Stevens, Servi J C, Vermeulen, Jeroen R, van Harssel, Jeske V T, Bosch, Danielle G M, van Gassen, Koen L I, van Binsbergen, Ellen, de Geus, Christa M, Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jona, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M, Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B, Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W, Berry, Ian R, Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M, Radley, Jessica A, Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G, Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roo, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J M, Cohn, Ronald D, Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W, Brunner, Han G, Vissers, Lisenka E L M, Kleefstra, Tjitske, Koolen, David A, Weksberg, Rosanna

المصدر: American journal of human genetics, vol 108, iss 6
American Journal of Human Genetics
American Journal of Human Genetics, 108, 1053-1068
American Journal of Human Genetics, 108, 6, pp. 1053-1068
American Journal of Human Genetics, 108(6), 1053-1068. CELL PRESS
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D, Kannu, P, Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, 108(6), 1053-1068. Cell Press

مصطلحات موضوعية: 0301 basic medicine, Heart Septal Defects, Ventricular, Male, DNA methylation signature, nonsense-mediated decay, speech delay, PROTEIN, 030105 genetics & heredity, PHENOTYPE, epigenomic, Medical and Health Sciences, Epigenesis, Genetic, Craniofacial Abnormalities, Cohort Studies, Neurodevelopmental disorder, 2.1 Biological and endogenous factors, Aetiology, Genetics (clinical), Growth Disorders, Epigenomics, non-FLHS SRCAP-related NDD, Genetics, Adenosine Triphosphatases, Genetics & Heredity, neurodevelopmental disorders, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], SOTOS-LIKE, Biological Sciences, SRCAP, Hypotonia, AT-HOOK, 3. Good health, Phenotype, Mental Health, intellectual disability, Speech delay, DNA methylation, Female, medicine.symptom, Abnormalities, Multiple, EXON 34, Intellectual and Developmental Disabilities (IDD), Locus (genetics), Biology, genotype-phenotype correlation, DIAGNOSIS, Article, 03 medical and health sciences, Genetic, Clinical Research, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Floating-Harbor syndrome, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, Heart Septal Defects, Infant, Newborn, Ventricular, dNaM, Infant, DNA Methylation, medicine.disease, Newborn, neurodevelopmental disorder, GENE, Brain Disorders, 030104 developmental biology, Floating–Harbor syndrome, Case-Control Studies, Mutation, epigenomics, EPISIGNATURES, Epigenesis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627d030c3d4e791377a8f96b90170fc8
https://escholarship.org/uc/item/16q9g96p

المؤلفون: Bertrand Isidor, Ruth Armstrong, Thabo M. Yates, Susan M. White, Ruth Richardson, Solveig Heide, Katherine B. Burke, Tjitske Kleefstra, Marie Vincent, Meena Balasubramanian, Maria Irene Valenzuela Palafoll, Sébastien Küry, Rolph Pfundt, Ruth Newbury-Ecob, Sahar Mansour, Wendy K. Chung, Caroline Nava, Sofia Douzgou, Erika Leenders, Annachiara De Sandre-Giovannoli, Saba Sharif, Andrew E. Fry, Helen Stewart, Nicola K. Ragge, Alexander J. M. Dingemans, Pradeep C. Vasudevan, Alison Foster, Sahar Elouej, Shadi Albaba, François-Guillaume Debray, Boris Keren, Serwet Demirdas, Francis H. Sansbury, Thomas Scheffner, Arie van Haeringen, Alice S. Brooks, Meyke Schouten, Helen Cox, Kate Wilson

المساهمون: Sheffield Children's NHS Foundation Trust, University of Sheffield [Sheffield], Radboud University Medical Center [Nijmegen], Newcastle Upon Tyne Hospitals NHS Foundation Trust, Birmingham Children’s Hospital, Manchester University NHS Foundation Trust (MFT), University of Manchester [Manchester], Addenbrooke's Hospital, Cambridge University NHS Trust, University Hospital of Wales, Oxford Brookes University, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), St. George’s Hospital University, Oxford University Hospitals NHS Foundation Trust, Partenaires INRAE, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Columbia University [New York], Leiden University Medical Center (LUMC), Reutlingen University, Centre Hospitalier Universitaire de Liège (CHU-Liège), Murdoch Children's Research Institute (MCRI), University of Melbourne, Vall d'Hebron University Hospital [Barcelona], University Hospitals Bristol, Clinical Genetics, Institut Català de la Salut, [Balasubramanian M] Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK. Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK. [Dingemans AJM] Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. [Albaba S] Sheffield Diagnostic Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK. [Richardson R] Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Trust, Newcastle, UK. [Yates TM] Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK. [Cox H] West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Birmingham, UK. [Palafoll MIV] Servei de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, University Hospital of Wales (UHW), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Universiteit Leiden

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29(4), 625-636. Nature Publishing Group
Scientia
European Journal of Human Genetics, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29, 4, pp. 625-636
European Journal of Human Genetics, 29, 625-636
European Journal of Human Genetics, 29(4), 625-636. SPRINGERNATURE

مصطلحات موضوعية: Male, Pediatrics, Genetic testing, Developmental Disabilities, Craniofacial Abnormalities, Intellectual disability, Missense mutation, Child, Genetics (clinical), trastornos mentales::trastornos del desarrollo neurológico::discapacidades del desarrollo [PSIQUIATRÍA Y PSICOLOGÍA], 0303 health sciences, Otros calificadores::Otros calificadores::/genética [Otros calificadores], 030305 genetics & heredity, Cognition, Syndrome, Autism spectrum disorders, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, 3. Good health, Fenotip, Sin3 Histone Deacetylase and Corepressor Complex, Phenotype, Autism spectrum disorder, Child, Preschool, Cohort, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, Trastorns del desenvolupament - Aspectes genètics, Infants, medicine.medical_specialty, Adolescent, personas::Grupos de Edad::niño [DENOMINACIONES DE GRUPOS], Article, 03 medical and health sciences, Mental Disorders::Neurodevelopmental Disorders::Developmental Disabilities [PSYCHIATRY AND PSYCHOLOGY], Intellectual Disability, Genetics, medicine, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Attention deficit hyperactivity disorder, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Infant, Persons::Age Groups::Child [NAMED GROUPS], medicine.disease, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES], Autism, business, fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211d719da101010371b73dc1427c5fd2
https://hal.sorbonne-universite.fr/hal-03113281

المؤلفون: Charu Deshpande, Joke B. G. M. Verheij, H Van Bokhoven, Siddharth Banka, J. S. Klein Wassink-Ruiter, Elizabeth J. Bhoj, S. C. Huffels, R. Pfundt, Ernie M.H.F. Bongers, Anne Gregor, A.P.M. de Brouwer, André Reis, Christiane Zweier, Hakon Hakonarson, Nicola K. Ragge, L. Gompertz, Dong Li, Sanmati Cuddapah, Alexander P.A. Stegmann, Sally Ann Lynch, A.T. Vulto-van Silfhout, Willie Reardon, Gyri Aasland Gradek, Daniel L. Polla, Kate Chandler, C. T. R. M. Stumpel, B. B. A. de Vries, R. Wennekes, Elaine H. Zackai, Siren Berland, Erika Leenders, K. Hill-Karfe

المساهمون: Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9)

المصدر: Genetics in Medicine, 23, 4, pp. 645-652
Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H & de, B APM 2020, ' De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01040-6
Genetics in Medicine, 23(4), 645-652. Nature Publishing Group
Genetics in Medicine, 23, 645-652

مصطلحات موضوعية: 0301 basic medicine, FG syndrome, Mutation, Missense, 030105 genetics & heredity, Biology, Short stature, MED12, 03 medical and health sciences, Exon, BLEPHAROPHIMOSIS, Genes, X-Linked, Intellectual Disability, medicine, Missense mutation, Humans, Genetics(clinical), TRANSCRIPTION, Gene, MUTATION, Genetics (clinical), Genetics, OHDO SYNDROME, Mediator Complex, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Syndrome, medicine.disease, Phenotype, Blepharophimosis, GENE, DELINEATION, FG SYNDROME, 030104 developmental biology, Neurodevelopmental Disorders, Mental Retardation, X-Linked, Female, medicine.symptom, MENTAL-RETARDATION

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3096973d0dab91ba75f31747c1525309
https://repository.ubn.ru.nl/handle/2066/234992

المؤلفون: Lenie van den Engel-Hoek, Erika Leenders, Joyce Geelen, Joris Drossaers, Jos M. T. Draaisma

المصدر: European Journal of Pediatrics
European Journal of Pediatrics, 179, 11, pp. 1683-1688
European Journal of Pediatrics, 179, 1683-1688

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Early onset feeding problems, Late onset feeding problems, First year of life, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Gastroesophageal reflux disease, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], 03 medical and health sciences, 0302 clinical medicine, medicine, Prevalence, Humans, In patient, Child, Genetic testing, medicine.diagnostic_test, business.industry, Noonan Syndrome, Dysphagia, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], PTPN11, 030104 developmental biology, Phenotype, Feeding problems, 030220 oncology & carcinogenesis, Clinical diagnosis, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Noonan syndrome, Original Article, medicine.symptom, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7751b275e78c82a01ea2c96dd5da815b
https://pubmed.ncbi.nlm.nih.gov/32394265

المؤلفون: Christian P. Kratz, Jan Loeffen, Erika Leenders, Nicoline Hoogerbrugge, John Burn, Roger J. M. Brüggemann, Harm Westdorp, Marjolijn C.J. Jongmans

المساهمون: Pediatrics

المصدر: European Journal of Human Genetics, 26, 10, pp. 1417-1423
European Journal of Human Genetics, 26(10), 1417-1423. Nature Publishing Group
European Journal of Human Genetics, 26, 1417-1423

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Colorectal cancer, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Review Article, MLH1, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Neoplastic Syndromes, Hereditary, Internal medicine, Neoplasms, Genetics, medicine, PMS2, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Humans, Child, neoplasms, Genetics (clinical), Germ-Line Mutation, Mismatch Repair Endonuclease PMS2, Cancer prevention, Aspirin, business.industry, Brain Neoplasms, Cancer, nutritional and metabolic diseases, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, digestive system diseases, MSH6, DNA-Binding Proteins, 030104 developmental biology, MutS Homolog 2 Protein, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], MSH2, 030220 oncology & carcinogenesis, business, Colorectal Neoplasms, MutL Protein Homolog 1, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcb432440c0c35fcdeaee016161bbd22
https://hdl.handle.net/2066/199965