المؤلفون: Ilse Wieland, Ina Schanze, Ina Marianti Felgendreher, Winfried Barthlen, Silke Vogelgesang, Klaus Mohnike, Martin Zenker

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: ABCC8, Achaete-scute complex homolog 2, CHI, KCNJ11, UPD 11p, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.1015244/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/3106a4584cf8427086b5db0f0d4d817aTest

المؤلفون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

المساهمون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, , Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

مصطلحات موضوعية: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29300384; info:eu-repo/semantics/altIdentifier/wos/WOS:000445531800009; volume:20; issue:9; firstpage:965; lastpage:975; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11585/645446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050603332; https://www.nature.com/articles/gim2017221Test

الإتاحة: https://doi.org/10.1038/gim.2017.221Test
http://hdl.handle.net/11585/645446Test
https://www.nature.com/articles/gim2017221Test

المؤلفون: Hendrik Vossschulte, Konrad Mohnike, Klaus Mohnike, Katharina Warncke, Ayse Akcay, Martin Zenker, Ilse Wieland, Ina Schanze, Julia Hoefele, Christine Förster, Winfried Barthlen, Kim Stahlberg, Susann Empting

المصدر: Journal of the Endocrine Society. 6

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4397da1c53e72c3e8be830ff4420c35fTest
https://doi.org/10.1210/jendso/bvac056Test

المؤلفون: Luz Consuelo Zepeda-Romero, Martin Zenker, Denny Schanze, Ina Schanze, Christian Peña-Padilla, Claudia Angélica Quezada-Salazar, Paulina Araceli Pacheco-Torres, María Luisa Rivera-Montellano, Rafael Luis Aguirre-Guillén, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Jorge Román Corona-Rivera

المصدر: European journal of medical genetics. 65(12)

مصطلحات موضوعية: Male, Scalp, Biological Variation, Population, Ectodermal Dysplasia, Genetics, Limb Deformities, Congenital, Microcephaly, Humans, Guanine Nucleotide Exchange Factors, Female, General Medicine, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e05a6887bdfc82d87e5df1eb2baee9Test
https://pubmed.ncbi.nlm.nih.gov/36330903Test

المؤلفون: Christian Hagel, Reinhard E Friedrich, Martin Zenker, Ina Schanze, Ilse Wieland, Felix K Kohlrusch

المصدر: Anticancer Research. 40:3423-3427

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Skin Neoplasms, Somatic cell, Biopsy, Gene mutation, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Plexiform neurofibroma, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Neurofibromatosis, neoplasms, Genetic Association Studies, Neurofibroma, Plexiform, Leg, integumentary system, Mosaicism, business.industry, General Medicine, Middle Aged, medicine.disease, Penetrance, Phenotype, nervous system diseases, Oncology, 030220 oncology & carcinogenesis, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47a0502782ca1219dfcf530b4d508692Test
https://doi.org/10.21873/anticanres.14327Test

المؤلفون: Marco Tartaglia, Dragana Josifova, Christina Lissewski, Martin Zenker, Luca Pannone, Viviana Claudia Canale, Massimiliano Anselmi, Simone Martinelli, Denny Schanze, Julia Brinkmann, Francesca Clementina Radio, Adonis S. Ioannides, Mina Ryten, Nils Rahner, Ina Schanze, Francesca Pantaleoni, Elisabetta Flex, Paolo Calligari, Lorenzo Stella, Gianfranco Bocchinfuso

المصدر: Human Mutation. 41:1171-1182

مصطلحات موضوعية: 0303 health sciences, 030305 genetics & heredity, HEK 293 cells, Mutant, Biology, Phenotype, Germline, Cell biology, PTPN11, Glutamine, 03 medical and health sciences, Gene duplication, Genetics, Missense mutation, skin and connective tissue diseases, Genetics (clinical), 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a889b96fe092a74cd47705b4134e916aTest
https://doi.org/10.1002/humu.24007Test

المؤلفون: Simone, Martinelli, Luca, Pannone, Christina, Lissewski, Julia, Brinkmann, Elisabetta, Flex, Denny, Schanze, Paolo, Calligari, Massimiliano, Anselmi, Francesca, Pantaleoni, Viviana Claudia, Canale, Francesca Clementina, Radio, Adonis, Ioannides, Nils, Rahner, Ina, Schanze, Dragana, Josifova, Gianfranco, Bocchinfuso, Mina, Ryten, Lorenzo, Stella, Marco, Tartaglia, Martin, Zenker

المصدر: Human mutationREFERENCES. 41(6)

مصطلحات موضوعية: Male, Adolescent, Glutamine, Noonan Syndrome, Infant, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Middle Aged, HEK293 Cells, Protein Domains, Child, Preschool, Humans, Female, Child, Peptides, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6cd397342f584d8998e2602b6ab9e7daTest
https://pubmed.ncbi.nlm.nih.gov/32112654Test

المؤلفون: Sonal Mahida, Elliott H. Sherr, Elodie Lacaze, William B. Dobyns, Kosuke Izumi, Hilde Peeters, Marielle Alders, Catherine Nowak, Dawn L. Earl, Richard M. Gronostajski, Ryan J. Dean, Megan T. Cho, Anouck Schneider, Siren Berland, Patricia Blanchet, Laurence Faivre, Martin Zenker, Ina Schanze, Caitlin J. Bridges, Daniela T. Pilz, Sangamitra Boppudi, Ilse Wieland, Jens Bunt, Avni Santani, Jessica Douglas, Elaine H. Zackai, Muriel Holder-Espinasse, Linda J. Richards, Jean Baptiste Rivière, Tania Attié-Bitach, Timothy J. Edwards, Vincent Gatinois, Jacques Puechberty, Jonathan W. C. Lim, Ghayda Mirzaa, Sian Morgan, Phillis Lakeman, Steven Boogert, Samuel Huth, Marion Gérard, Denny Schanze, Florence Petit, Xiaonan Zhao, Eyal Reinstein, David Geneviève, Bronwyn Kerr, Dian Donnai, Constance Smith-Hicks, Brieana Fregeau

المساهمون: Amsterdam Reproduction & Development (AR&D), ACS - Pulmonary hypertension & thrombosis, Human Genetics, Otto-von-Guericke-Universität Magdeburg = Otto-von-Guericke University [Magdeburg] (OVGU), Queensland Brain Institute, University of Queensland [Brisbane], University of Amsterdam [Amsterdam] (UvA), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Embryology and genetics of human malformation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Haukeland University Hospital, University of Bergen (UiB), GeneDx [Gaithersburg, MD, USA], University of Washington [Seattle], Seattle Children’s Hospital, University of Manchester [Manchester], Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, FHU TRANSLAD (CHU de Dijon), University of California [San Francisco] (UC San Francisco), University of California (UC), Unité fonctionnelle de génétique clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Lille, Children’s Hospital of Philadelphia (CHOP ), Département de génétique (groupe hospitalier le Havre), Groupe Hospitalier du Havre, Kennedy Krieger Institute [Baltimore], University Hospital of Wales (UHW), University Hospitals Leuven [Leuven], University of Glasgow, Sackler Faculty of Medicine, Tel Aviv University (TAU), Perelman School of Medicine, University of Pennsylvania, This work was supported by grants from the National Healthand Medical Research Council Australia (GNT1100443 to L.J.R.), the French Ministry of Health (PHRC national 2008/2008-A00515-50), Regional Council of Burgundy/Dijon University hospital (PARI 2012), The Genesis Foundation for Children, the US National Institutes of Health under NINDS grants(1R01NS092772 and 234567890 to W.B.D., 1R01NS058721 toW.B.D. and E.H.S., and K08NS092898 to G.M.M.), and Jordan’s Guardian Angels (G.M.M.). J.W.C.L. was supported by an International Postgraduate Research Scholarship and UQ Centennial Scholarship. R.M.G. was supported by NYSTEM grants (C026714,C026429, and C030133). R.J.D. was supported by Brain Injured Children’s Aftercare Recovery Endeavours (BICARE) Fellowship.L.J.R. was supported by an NHMRC Principal Research Fellowship(GNT1005751). M.Z. was supported by a grant from the GermanMinistry of Education and Research (BMBF) (GeNeRARe01GM1519A). We acknowledge the Linkage Infrastructure, Equipment and Facilities (LIEF) grant (LE100100074) awarded to the Queensland Brain Institute for the Slide Scanner and the facilities of the National Imaging Facility (NIF) at the Centre for Advanced Imaging, University of Queensland, used in the animal experiments., European Project: 270259,EC:FP7:ICT,FP7-ICT-2009-6,TBICARE(2011), Institute of Human Genetics (University Hospital Magdeburg), University Hospital of the Otto von Guericke University of Magdeburg, Department of Clinical Genetics, Academic Medical Centre, Amsterdam, Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Bergen (UIB), Seattle Children's Research Institute, Department of Neurology (University of California : San Francisco), University of California [San Francisco] (UCSF), University of California-University of California, Department of Medical Genetics, HMNC Brain Health, Seattle Children’s Hospital [Seattle, WA, USA], Centre Régional de Lutte contre le cancer - Centre Georges-François Leclerc (CRLCC - CGFL), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU de Montpellier], Université de Lorraine (UL), Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Pediatrics (Perelman School of Medicine), University of Pennsylvania [Philadelphia], Regional Genetic Service, St Mary's Hospital, Manchester, Department of Clinical Genetics (Academic Medical Center, University of Amsterdam), VU University Medical Center [Amsterdam], Department of Pediatrics [Seattle, WA, USA] (Division of Genetic Medicine), University of Washington [Seattle]-Seattle Children’s Hospital [Seattle, WA, USA], Institute of Medical Genetics (University Hospital of Wales), University Hospital of Wales, Center for Human Genetics, University Hospitals Leuven, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc - U837 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille 2 - Faculté de Médecine -Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), West of Scotland Genetics Service (Queen Elizabeth University Hospital), University Hospital Birmingham Queen Elizabeth, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Medical Genetics Institute, Meir Medical Center, Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Department of Pathology and Laboratory Medicine [Philadelphia, PA, USA], University of Pennsylvania [Philadelphia]-Perelman School of Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, School of Computer Science and Technology, Northwestern Polytechnical University [Xi'an] (NPU), Department of Biochemistry and Developmental Genomics Group, University at Buffalo [SUNY] (SUNY Buffalo), State University of New York (SUNY)-State University of New York (SUNY)-Center of Excellence in Bioinformatics and Life Sciences, Institute of Human Genetics, University Hospital Magdeburg, université de Bourgogne, LNC, Evidence based Diagnostic and Treatment Planning Solution for Traumatic Brain Injuries - TBICARE - - EC:FP7:ICT2011-02-01 - 2014-07-31 - 270259 - VALID, Otto-von-Guericke University [Magdeburg] (OVGU), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University of California, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University Hospital of Wales [Cardiff, UK], Tel Aviv University [Tel Aviv]

المصدر: American journal of human genetics, 103(5), 752-768. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
American journal of human genetics, vol 103, iss 5

مصطلحات موضوعية: Male, 0301 basic medicine, chromosome 9p23, Medical and Health Sciences, Corpus Callosum, Cohort Studies, Mice, 2.1 Biological and endogenous factors, Megalencephaly, Aetiology, Child, Agenesis of the corpus callosum, Genetics (clinical), Pediatric, Genetics & Heredity, Cerebral Cortex, Mice, Knockout, Genetics, Single Nucleotide, nuclear factor I, Biological Sciences, NFIB, NFIX, developmental delay, Mental Health, Codon, Nonsense, NFIA, intellectual disability, Child, Preschool, chromosome 9p22.3, Neurological, Speech delay, Female, medicine.symptom, Haploinsufficiency, Adult, Adolescent, Knockout, Intellectual and Developmental Disabilities (IDD), [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, macrocephaly, Polymorphism, Single Nucleotide, Article, Young Adult, 03 medical and health sciences, Rare Diseases, Behavioral and Social Science, medicine, megalencephaly, Animals, Humans, Polymorphism, Codon, Preschool, Neurosciences, Macrocephaly, medicine.disease, Brain Disorders, haploinsufficiency, NFI Transcription Factors, 030104 developmental biology, Nonsense, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, agenesis of the corpus callosum

وصف الملف: Print; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9695545ac31c931a40288754e47b8ee9Test
https://doi.org/10.1016/j.ajhg.2018.10.006Test

المؤلفون: Paola Francesca Ajmone, Maria Luisa Poch-Olive, Jens Erik Klint Nielsen, Christiane Zweier, Giovanni Sorge, Marzia Pollazzon, Bert Callewaert, Jeroen Breckpot, Olivera Djuric, Chiara Baldo, Rikke S. Møller, Isabella Mammi, Livia Garavelli, Gioacchino Scarano, Baris Malbora, Alessandro Iodice, Lucio Giordano, Marina Grasso, Alessandro Pellicciari, Marcella Zollino, Daniele De Brasi, Aurélien Trimouille, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Ina Schanze, Sébastien Moutton, Anna Kutkowska-Kazmierczak, Agata Fiumara, Andrea Conidi, Emilia Ricci, Duccio Maria Cordelli, Roberta Epifanio, Allan Bayat, Federico Bonvicini, Magdalena Badura-Stronka, Lorenzo Iughetti, Tina Duelund Hjortshøj, Anita Rauch, Vladimir Kuburovic, Giulia Montorsi, Elvis rci Te Valera, Debora Formisano, Stefano Giuseppe Caraffi, Krzysztof Szczaluba, Daniela Santodirocco, Sabine Grønborg, Francesca Faravelli, Maria Antonietta Pisanti, Didier Lacombe, Gijs W. E. Santen, Margherita Silengo, Ivan Ivanovski, Luis G. Tone, Goran Cuturilo, Francesca Mari, Guido Cocchi, Margaret P. Adam, Simonetta Rosato, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Ewa Obersztyn, Maddalena Baldi, Angelo Selicorni, Alessandra Renieri, Annick Toutain, Mary Beth Dinulos, Petra Muschke, Luigina Spaccini, Luigi Tarani, Igor Prpić, Francesca Rivieri, Koenraad Devriendt, Stefania Bigoni, Robert Smigiel, Anna Luchetti, Federico Raviglione, Martin Zenker, Caterina Lo Rizzo, Salvatore Savasta

المساهمون: Cell biology, Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

المصدر: Genetics in Medicine, 20(9), 965-975. Lippincott Williams & Wilkins
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221Test
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221Test
Volume 20
Issue 9

مصطلحات موضوعية: 0301 basic medicine, Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, Microcephaly/diagnosis, Settore MED/03 - GENETICA MEDICA, Bioinformatics, Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2, Hirschsprung Disease/diagnosis, BOX 1B GENE, Abnormalities, Multiple/genetics, Genotype, Intellectual disability, Medicine and Health Sciences, Missense mutation, Mowat-Wilson syndrome, Family history, Child, Genetics (clinical), BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Intellectual Disability/diagnosis, Phenotype, ZEB2 gene. Mowat-Wilson syndrome, intellectual disability, 3. Good health, SIBLINGS, Child, Preschool, Microcephaly, Female, Adult, Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2, Adolescent, 03 medical and health sciences, Genetic variation, medicine, Humans, Abnormalities, Multiple, Hirschsprung Disease, RECURRENCE, ZFHX1B MUTATIONS, Genetic Association Studies, Genetic association, Zinc Finger E-box Binding Homeobox 2, SPECTRUM, SMAD-INTERACTING PROTEIN-1, business.industry, CLINICAL-FEATURES, ZEB2 gene. Mowat-Wilson syndrome, Biology and Life Sciences, Facies, Infant, HIRSCHSPRUNG-DISEASE, medicine.disease, Zinc Finger E-box Binding Homeobox 2/genetics, DELINEATION, Genetic Association Studies/methods, 030104 developmental biology, Mutation, business, MENTAL-RETARDATION

وصف الملف: application/pdf; Print-Electronic; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a350d1254cd94b377a69599bd8301Test
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9daTest

المؤلفون: Nima Rezaei, Maja Sukalo, Eva Schäflein, Alexander Kleger, Jesús Argente, Martin Zenker, Tsutomu Takahashi, David B. Everman, Isabel Lorda-Sanchez, Ina Schanze, Charu Deshpande

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Male, DNA Mutational Analysis, medicine.disease_cause, Anus, Imperforate, Exon, Ectodermal Dysplasia, Gene Duplication, Genotype, Gene duplication, Child, Genetics (clinical), Growth Disorders, Genetics, Sanger sequencing, Mutation, Clinical Report, autosomal recessive, Exons, MLPA, Phenotype, Child, Preschool, symbols, Female, multiplex ligation‐dependent probe amplification, Adult, Hearing Loss, Sensorineural, Ubiquitin-Protein Ligases, Biology, Nose, UBR1, Clinical Reports, 03 medical and health sciences, symbols.namesake, Hypothyroidism, Intellectual Disability, medicine, Humans, Multiplex ligation-dependent probe amplification, Allele, Molecular Biology, Gene, Alleles, Base Sequence, Pancreatic Diseases, DNA, Molecular biology, 030104 developmental biology, Johanson‐Blizzard syndrome, Multiplex Polymerase Chain Reaction, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91a82601e4ec80ec78ffb9750461ce62Test
http://europepmc.org/articles/PMC5702574Test