المؤلفون: Raquel Gouveia-Silva, João Rodrigues-Alves, Juliette Dupont, Oana Moldovan, Patrícia Dias, Márcia Rodrigues, Ana Medeira, Ana B. Sousa

المصدر: Portuguese Journal of Pediatrics, Vol 55, Iss 1 (2024)

مصطلحات موضوعية: DYRK1A. Intellectual disability. Portuguese cohort., Pediatrics, RJ1-570, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://pjp.spp.pt/frame_eng.php?id=36Test; https://doaj.org/toc/2184-4453Test

الوصول الحر: https://doaj.org/article/cbf295cbe7784410bd90a9db31e339b5Test

المؤلفون: Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Mowat-Wilson syndrome, ZEB2, Growth charts, Weight, Length, Height, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-020-01418-4Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/80124a98602c4794863224c650289c08Test

المؤلفون: Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar

المصدر: JIMD Reports, Vol 53, Iss 1, Pp 2-9 (2020)

مصطلحات موضوعية: congenital disorders of deglycosylation, dyskinesia, global developmental delay, NGLY1, whole exome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/29dc8333e01c4efd916f41810852bfb1Test

المؤلفون: Fátima Lopes, Fátima Torres, Gabriela Soares, Mafalda Barbosa, João Silva, Frederico Duque, Miguel Rocha, Joaquim Sá, Guiomar Oliveira, Maria João Sá, Teresa Temudo, Susana Sousa, Carla Marques, Sofia Lopes, Catarina Gomes, Gisela Barros, Arminda Jorge, Felisbela Rocha, Cecília Martins, Sandra Mesquita, Susana Loureiro, Elisa Maria Cardoso, Maria José Cálix, Andreia Dias, Cristina Martins, Céu R. Mota, Diana Antunes, Juliette Dupont, Sara Figueiredo, Sónia Figueiroa, Susana Gama-de-Sousa, Sara Cruz, Adriana Sampaio, Paul Eijk, Marjan M. Weiss, Bauke Ylstra, Paula Rendeiro, Purificação Tavares, Margarida Reis-Lima, Jorge Pinto-Basto, Ana Maria Fortuna, Patrícia Maciel

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: CNVs, Neurodevelopment, Genotype-phenotype correlation, CUL4B overexpression, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-019-1135-0Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/bb7b4f8ceb644b0184506045e0ebf972Test

المؤلفون: Catarina Silvestre, Juliette Dupont, Rosário Silveira Santos, Brígida Robalo, Carla Pereira, Maria Lurdes Sampaio

المصدر: Case Reports in Pediatrics, Vol 2019 (2019)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-6803Test; https://doaj.org/toc/2090-6811Test

الوصول الحر: https://doaj.org/article/e52befb2d9324dc8a9c75b6d6cc7d49aTest

المؤلفون: Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristiina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Garcia, Juliette Dupont, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Moller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Reina, Purificacion Marin, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Rossi, Paolo Giorgi, Garavelli, Livia

المساهمون: HUSLAB, Clinicum, Department of Medical and Clinical Genetics, Helsinki University Hospital Area

مصطلحات موضوعية: Mowat-Wilson syndrome, ZEB2, Growth charts, Weight, Length, Height, Head circumference, Body mass index, BMI, FEATURES, CHILDREN, INDIVIDUALS, DELINEATION, STATISTICS, MUTATIONS, DISEASE, AGE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: The authors thank the Galliera Genetic Bank, member of the Telethon Genetic Biobank Network (project GTB12001), funded by Telethon Italy, and the Associazione Italiana Mowat Wilson ONLUS for assistance in managing patients' samples. We also thank all cooperating family members for contributing the medical data necessary for this study. In addition, we are grateful to Luca Valcavi for helping with the design and adaptation of the figures.; Ivanovski , I , Djuric , O , Broccoli , S , Caraffi , S G , Accorsi , P , Adam , M P , Avela , K , Badura-Stronka , M , Bayat , A , Clayton-Smith , J , Cocco , I , Cordelli , D M , Cuturilo , G , Di Pisa , V , Garcia , J D , Gastaldi , R , Giordano , L , Guala , A , Hoei-Hansen , C , Inaba , M , Iodice , A , Nielsen , J E K , Kuburovic , V , Lazalde-Medina , B , Malbora , B , Mizuno , S , Moldovan , O , Moller , R S , Muschke , P , Otelli , V , Pantaleoni , C , Piscopo , C , Poch-Olive , M L , Prpic , I , Reina , P M , Raviglione , F , Ricci , E , Scarano , E , Simonte , G , Smigiel , R , Tanteles , G , Tarani , L , Trimouille , A , Valera , E T , Vergano , S S , Writzl , K , Callewaert , B , Savasta , S , Street , M E , Iughetti , L , Bernasconi , S , Rossi , P G & Garavelli , L 2020 , ' Mowat-Wilson syndrome : growth charts ' , Orphanet journal of rare diseases , vol. 15 , no. 1 , 151 . https://doi.org/10.1186/s13023-020-01418-4Test; beec37b4-2380-47bd-92d2-1d1143f364a2; http://hdl.handle.net/10138/317794Test; 000542252700002

الإتاحة: http://hdl.handle.net/10138/317794Test

المؤلفون: Raquel Gouveia Silva, Juliette Dupont, Eduardo Silva, Ana Berta Sousa

مصطلحات موضوعية: Ophthalmology, Phenotype, Optic Nerve Hypoplasia, HDE OFT, Pediatrics, Perinatology and Child Health, F-Box Proteins* / genetics, Intellectual Disability* / genetics, Humans, Muscle Hypotonia, Protein-Arginine N-Methyltransferases / genetics, Eye Abnormalities

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3cb43fb0349f78f42ff533933847af7Test
https://hdl.handle.net/10400.17/4479Test

المؤلفون: Ana Berta Sousa, Juliette Dupont, Catarina Machado, Patrícia Lipari Pinto, Patrícia Janeiro, Ana Gaspar, Sofia Quintas

المصدر: JIMD Reports, Vol 53, Iss 1, Pp 2-9 (2020)
JIMD Reports

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ataxia, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Case Report, global developmental delay, Case Reports, congenital disorders of deglycosylation, Biochemistry, Genetics and Molecular Biology (miscellaneous), Alacrima, lcsh:Diseases of the endocrine glands. Clinical endocrinology, whole exome sequencing, Internal Medicine, medicine, NGLY1, Global developmental delay, Cervical dystonia, Exome sequencing, lcsh:RC648-665, business.industry, medicine.disease, Hypotonia, dyskinesia, lcsh:Genetics, Dyskinesia, medicine.symptom, business, Congenital disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60862f756fd7f594061dbc2038b631bTest
https://doaj.org/article/29dc8333e01c4efd916f41810852bfb1Test

المؤلفون: Aida M. Bertoli-Avella, José Pedro Vieira, Ana Berta Sousa, Juliette Dupont, Ana Lisa Taylor Tavares, Carla Conceição, Suliman Khan

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Aplasia/Hypoplasia, Developmental Disabilities, Hearing Loss, Sensorineural, Keratoconjunctivitis, Dwarfism, Nerve Tissue Proteins, HDE NEU PED, Congenital cranial dysinnervation disorder, Vestibulo-cochlear nerve aplasia, 030105 genetics & heredity, 03 medical and health sciences, Intellectual Disability, NEUROG1, Oromotor dysfunction, Basic Helix-Loop-Helix Transcription Factors, Genetics, medicine, Humans, Missense mutation, Trigeminal Nerve, Corneal reflex, Child, Cochlear Nerve, Genetics (clinical), Loss function, business.industry, Cranial nerves, Sensorineural deafness, medicine.disease, Hypoplasia, Hypotonia, 030104 developmental biology, Neurodevelopmental Disorders, HDE NRAD, Atresia, Muscle Hypotonia, Sensorineural hearing loss, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1917920b05803f89457674d8a524a2e9Test

المؤلفون: Sandra Whalen, Juliette Dupont, Sandrine Vuillaumier-Barrot, Chloe Hanna, Gorjana Robevska, Phillipa J. Lamont, Lurdes Sampaio, John Christodoulou, Rocio Rius, Elena J. Tucker, André Travessa, Jocelyn van den Bergen, Andrew H. Sinclair, Arnaud Isapof, Katrina M. Bell, Andrea Simpson, Jérôme Dulon, Sylvie Jaillard, Tanya Stojkovic, Susana Quijano-Roy, David R. Thorburn, Katie L. Ayers, Philippe Touraine

المساهمون: Murdoch Children's Research Institute (MCRI), University of Melbourne, CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-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 ), Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Filière Neuromusculaire (FILNEMUS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), National Health and Medical Research Council (NHMRC)National Health and Medical Research Council of Australia [1113531], NHMRCNational Health and Medical Research Council of Australia [1074258, 1054432, 1062854, 1155244], CONACYTConsejo Nacional de Ciencia y Tecnologia (CONACyT), Victorian Government's Operational Infrastructure Support Program, 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 )

المصدر: Human Genetics
Human Genetics, 2020, 139 (10), pp.1325-1343. ⟨10.1007/s00439-020-02176-w⟩
Human Genetics, Springer Verlag, 2020, 139 (10), pp.1325-1343. ⟨10.1007/s00439-020-02176-w⟩

مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Mitochondrial translation, Hearing Loss, Sensorineural, [SDV]Life Sciences [q-bio], Gene Expression, Biology, DNA, Mitochondrial, Amino Acyl-tRNA Synthetases, Mitochondrial Proteins, 03 medical and health sciences, Peroxisomal disorder, Genetics, medicine, Peroxisomes, Farnesyltranstransferase, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, 030305 genetics & heredity, Ovary, High-Throughput Nucleotide Sequencing, Geranyltranstransferase, Endopeptidase Clp, TFAM, medicine.disease, Dimethylallyltranstransferase, Human genetics, Premature ovarian failure, Gonadal Dysgenesis, 46,XX, Pedigree, DNA-Binding Proteins, Protein prenylation, ATPases Associated with Diverse Cellular Activities, Female, PEX6, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24b1eaa8ecc2ffcfe237546d81b48c2Test
https://univ-rennes.hal.science/hal-02796991Test