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: Friederike Petzold, Katy Billot, Xiaoyi Chen, Charline Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Cécile Jeanpierre, Kalman Tory, Olivia Boyer, Anita Burgun, Aude Servais, Remi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié-Bitach, Valerie Comier-Daire, Jean-Michel Rozet, Yaacov Frishberg, Brigitte Llanas, Michel Broyer, Nabil Mohsin, Marie-Alice Macher, Nicole Philip, Véronique Baudouin, Damian Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, Claude Guyot, Pierre Bataille, Mariet Elting, Georges Deschenes, Andrea Gropman, Geneviève Guest, Marie-France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, Albert Bensman, Anne-Marie Guerrot, Bertrand Knebelmann, Ilmay Bilge, Danièle Bruno, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Eric Bieth, Sophie Gie, Judith Goodship, Gwenaelle Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane Benoît, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, Michele Kessler, Theresa Kwon, Anine Lahoche, Audrey Laurent, Anne-Laure Leclerc, David Milford, Thomas Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadikoglu, Christine Barnerias, Anne Barthelemy, Lina Basel, Nader Bassilios, Hedi Ben Maiz, Fatma Ben Moussa, Faïza Benmati, Romain Berthaud, Aurélia Bertholet, Dominique Blanchier, Jean Jacques Boffa, Karim Bouchireb, Ihab Bouhabel, Zakaria Boukerroucha, Guylhène Bourdat-Michel, Odile Boute, Karine Brochard, Roseline Caumes, Siham Chafai Elalaoui, Bernard Chamontin, Marie Caroline Chastang, Christine Pietrement, Christine Richer, Christophe Legendre, Karin Dahan, Fabienne Dalla-Vale, Damien Thibaudin, Maxime Dauvergne, Salandre Davourie, Martin Debeukelaer, Jean Daniel Delbet, Constantinos Deltas, Denis Graber, Nadège Devillars, Boucar Diouf, Martine Doco Fenzy, Jean-Luc André, Dominique Joly, Alan Fryer, Laetitia Albano, Elisabeth Cassuto, Aline Pincon, Ana Medeira, Annabelle Chaussenot, Anne Mensire-Marinier, Francois Bouissou, Stephane Decramer, Armand Bottani, Aurélie Hummel, Alexandre Karras, Avi Katz, Christine Azema, Bénédicte Janbon, Bernard Roussel, Claude Bonniol, Christiophe Mariat, Gérard Champion, Deborah Chantreuil, Nicolas Chassaing, Christiane Mousson, Christine Baudeau, Delphine Hafdar Cuntz, Cyril Mignot, Laurene Dehoux, Didier Lacombe, Thierry Hannedouche, Elodie Mérieau, Emmanuelle Charlin, Eric Gauthier, Florent Plasse, Stanislas Faguer, Fanny Lebas, Florence Demurger, Francesco Emma, François Cartault, Geneviève Dumont, Nathalie Godefroid, Vincent Guigonis, Sophie Hillaire, Jaap Groothoff, Jan Dudley, Noémie Jourde-Chiche, Khalil El Karoui, Saoussen Krid, Krier Coudert, Larbi Bencheick, Laurent Yver, Marie-Pierre Lavocat, Le Monies De Sagazan, Valerie Leroy, Lise Thibaudin, Liz Ingulli, Lorraine Gwanmesia, Lydie Burglen, Marie-Hélène Saïd-Menthon, Marta Carrera, Mathilde Nizon, Catherine Melander, Michel Foulard, Monique Blayo, Jacques Prinseau, Nadine Jay, Nathalie Brun, Nicolas Camille, François Nobili, Olivier Devuyst, Ouafa Ben Brahim, Paloma Parvex, Laurence Perrin Sabourin, Philippe Blanc, Philippe Vanhille, Pierre Galichon, Sophie Pierrepont, Vincent Planquois, Gwenaelle Poussard, Claire Pouteil Noble, Radia Allal, Raphaelle Bernard, Raynaud Mounet, Rémi Cahen, Renaud Touraine, Claire Rigothier, Amélie Ryckewaert, Mathieu Sacquepee, Salima El Chehadeh, Charlotte Samaille, Shuman Haq, Ari Simckes, Stéphanie Lanoiselée, Stephanie Tellier, Jean-François Subra, Sylvie Cloarec, Julie Tenenbam, Thomas Lamy, Valérie Drouin Garraud, Huguette Valette, Vanina Meyssonnier, Rosa Vargas-Poussou, Yves Snajer, Sandrine Durault, Emmanuelle Plaisier, Etienne Berard, Fadi Fakhouri, Ferielle Louillet, Paul Finielz, Michel Fischbach, Bernard Foliguet, Hélène Francois-Pradier, Florentine Garaix, Marion Gerard, Gianfranco Rizzoni, Brigitte Gilbert, Denis Glotz, Astrid Godron Dubrasquet, Jean-Pierre Grünfeld, Guillaume Bollee, Michelle Hall, Sverker Hansson, Damien Haye, Hélène Taffin, Friedhelm Hildebrandt, Maryvonne Hourmand, Hümya Kayserili, Ivan Tack, Marie Line Jacquemont, Jennifer Fabre-Teste, Cliff Kashtan, Kkoen Van Hoeck, Alexandre Klein, Yannick Knefati, Nine Knoers, Martin Konrad, Alain Lachaux, Isabelle Landru, Gilbert Landthaler, Philippe Lang, Patrick Le Pogamp, Tristan Legris, Catherine Didailler, Thierry Lobbedez, Loïc de Parscau, Lucile Pinson, Hervé Maheut, Marc Duval-Arnould, Marlène Rio, Marie-Claire Gubler, Pierre Merville, Guillaume Mestrallet, Maite Meunier, Karine Moreau, Jérôme Harambat, Graeme Morgan, Georges Mourad, Niksic Stuber, Odile Boespflug-Tanguy, Olivier Dunand, Olivier Niel, Nacera Ouali, Paolo Malvezzi, Pauline Abou Jaoude, Solenne Pelletier, Julie Peltier, M.B. Petersen, Philippe Michel, Philippe Rémy, Jean-Baptiste Philit, Valérie Pichault, Thierry Billette de Villemeur, Bernard Boudailliez, Bruno Leheup, Claire Dossier, Djamal-Dine Djeddi, Yves Berland, Bruno Hurault de Ligny, Susan Rigden, Christophe Robino, Annick Rossi, Sabine Sarnacki, Messaoud Saidani, Albane Brodin Sartorius, Elise Schäfer, Sztriha Laszlo, Marie-Christine Thouret, Angélique Thuillier-Lecouf, Howard Trachtman, Claire Trivin, Michel Tsimaratos, Rita Van Damme-Lombaerts, Marjolaine Willems, Michel Youssef, Ariane Zaloszyc, Alexis Zawodnik, Marie-Julia Ziliotis

المصدر: INSERM–Necker Hospital NPH collaborative group 2023, ' The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies ', Kidney International . https://doi.org/10.1016/j.kint.2023.05.007Test

مصطلحات موضوعية: Nephrology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84b1914e62c005bde9c5799741aec741Test
https://doi.org/10.1016/j.kint.2023.05.007Test

المؤلفون: Ana Maria Fortuna, Isaura Ribeiro, Gert Matthijs, Francisco Ferraz Laranjeira, Jaak Jaeken, Dulce Quelhas, Luísa Azevedo, Ana Medeira, Helena Cabral Fernandes, Ana C. Ferreira, Sílvia Sequeira, A.F. Oliveira, Paula Garcia, Carla Mendonça, Valerie Race, Liesbeth Keldermans, Anabela Bandeira, Elisa Leão Teles, Esmeralda Rodrigues, Erica Souche, Patrícia Janeiro, Ana Maria Minarelli Gaspar, Luísa Diogo, Esmeralda Martins

المصدر: The Journal of Pediatrics. 231:148-156

مصطلحات موضوعية: Male, Time Factors, Adolescent, HDE MTB, congenital disorder(s) of glycosylation, PMM2 genotype, Cohort Studies, Young Adult, 03 medical and health sciences, symbols.namesake, Congenital Disorders of Glycosylation, 0302 clinical medicine, 030225 pediatrics, PGM1, Humans, Medicine, 030212 general & internal medicine, Allele, Child, Exome sequencing, Genetics, Sanger sequencing, Massive parallel sequencing, Portugal, business.industry, Transferrin, Infant, DPAGT1, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Congenital disorder/glycosylation, symbols, Female, CDG, business, Phosphomannomutase

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef67a3c026723b5172eea4bf5b70bb75Test
https://doi.org/10.1016/j.jpeds.2020.12.026Test

المؤلفون: Alexandra Cabral, Jorge M. Saraiva, Isabel Cordeiro, Ana Medeira, Heloísa G. Santos

المصدر: Portuguese Journal of Pediatrics, Vol 30, Iss 1 (2014)

مصطلحات موضوعية: Pseudoacondroplasia, PSACH, displasia óssea, COMP, Pediatrics, RJ1-570, Medicine (General), R5-920

العلاقة: https://pjp.spp.pt//article/view/5436Test; https://doaj.org/toc/2184-3333Test; https://doaj.org/article/65c3a1d9356e48828fa493c8f3a6be0aTest

الإتاحة: https://doi.org/10.25754/pjp.1999.5436Test
https://doaj.org/article/65c3a1d9356e48828fa493c8f3a6be0aTest

المؤلفون: Humberto Vassal, Isabel Cordeiro, Ana Medeira, Heloísa Santos

المصدر: Portuguese Journal of Pediatrics, Vol 30, Iss 4 (2014)

مصطلحات موضوعية: Nanismo, displasia metafisária, imunodeficiência, transmissão autossómica recessiva, Pediatrics, RJ1-570, Medicine (General), R5-920

العلاقة: https://pjp.spp.pt//article/view/5492Test; https://doaj.org/toc/2184-3333Test; https://doaj.org/article/764fced061af49f6bff77acafb299967Test

الإتاحة: https://doi.org/10.25754/pjp.1999.5492Test
https://doaj.org/article/764fced061af49f6bff77acafb299967Test

المؤلفون: Sofie Symoens, Delfien Syx, Margo L. Whiteford, Ana Berta Sousa, Ana Medeira, Anne De Paepe, Fransiska Malfait, Paul Coucke, Brecht Guillemyn, Trinh Hermanns-Lê

المصدر: Journal of Bone and Mineral Research. 30:1445-1456

مصطلحات موضوعية: Genetics, Endocrinology, Diabetes and Metabolism, Fibrillogenesis, Biology, medicine.disease, Compound heterozygosity, Molecular biology, Bone morphogenetic protein 1, Frameshift mutation, Extracellular matrix, Procollagen peptidase, Osteogenesis imperfecta, medicine, Missense mutation, Orthopedics and Sports Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aef17a439308d1b4381c4538ecffb196Test
https://doi.org/10.1002/jbmr.2473Test

المؤلفون: B. van Lier, Luis A. Pérez-Jurado, Alexander Hoischen, Periklis Makrythanasis, I. van der Burgt, Ann Nordgren, Alexandre Reymond, Britt-Marie Anderlid, M. del Campo, Ivon Cuscó, L. Toledo, Jacqueline Schoumans, C. M. Kets, B W M van Bon, Michael A. Simpson, M. Ruiterkamp-Versteeg, Juliette Dupont, Margherita Silengo, E. Frysira, L. Izatt, Lucia Micale, Willie Reardon, Stavroula Psoni, Patricia Dias, Helger G. Yntema, Nicole Revencu, Joris A. Veltman, Bartolomeo Augello, Juliane Hoyer, Isabel Cordeiro, Tony Roscioli, Giuseppe Merla, Ernie M.H.F. Bongers, M. Bhat, Christian Gilissen, Stylianos E. Antonarakis, H. G. Santos, E. Galan, Elisa Biamino, Peer Arts, Blanca Gener, Shehla Mohammed, A. M. Cueto-Gonzalez, Marloes Steehouwer, Richard C. Trembath, Carlo Marcelis, B. B. A. de Vries, Christiane Zweier, Han G. Brunner, B. Rodriguez-Santiago, Raquel Flores, Charu Deshpande, Janneke H M Schuurs-Hoeijmakers, S. A. de Munnik, Ana Medeira, Teresa Vendrell, David A. Koolen, S. M. Granneman

المصدر: Clinical Genetics. 84:539-545

مصطلحات موضوعية: medicine.medical_specialty, media_common.quotation_subject, Nonsense, Bioinformatics, medicine.disease_cause, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Coding region, Missense mutation, Gene, Genetics (clinical), 030304 developmental biology, media_common, 0303 health sciences, Mutation, Sotos syndrome, business.industry, medicine.disease, Phenotype, business, Kabuki syndrome, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::39eaa9d360ba5272c5f971c1f5c02e9aTest
https://doi.org/10.1111/cge.12081Test

المؤلفون: Vivienne McConnell, Alex Magee, Lynne M. Bird, Shelagh Joss, Trevor Cole, Valérie Cormier-Daire, Michael A. Patton, Hannah Titheradge, Anne Murray, Miranda Splitt, Siddharth Banka, Keiichi Ozono, Lionel Van Maldergem, Katrina Tatton-Brown, Nazneen Rahman, Sheila Seal, Clare Taylor, Debbie Shears, Volker Strenger, Esther Kinning, Marleen Simon, Sally Ann Lynch, Frances Flinter, Kyra E. Stuurman, I. Karen Temple, Tom Cushing, Ana Medeira, Sandra Hanks, Ruth Armstrong, Marie Line Jacquemont, Jenny Douglas, Carol L. Clericuzio, Julia Rankin

المساهمون: University of Zurich, Tatton-Brown, Katrina, Human Genetics, Clinical Immunology and Rheumatology, Paediatric Genetics

المصدر: American journal of medical genetics. Part A, 161(12), 2972-2980. Wiley-Liss Inc.

مصطلحات موضوعية: Male, 2716 Genetics (clinical), Adolescent, Developmental Disabilities, 610 Medicine & health, macromolecular substances, Biology, medicine.disease_cause, Craniofacial Abnormalities, Camptodactyly, 1311 Genetics, Intellectual Disability, Intellectual disability, Genetics, medicine, Genetic predisposition, Congenital Hypothyroidism, Missense mutation, Humans, Abnormalities, Multiple, Enhancer of Zeste Homolog 2 Protein, Child, Genetics (clinical), Growth Disorders, Weaver syndrome, Mutation, Sotos Syndrome, Sotos syndrome, EZH2, Polycomb Repressive Complex 2, medicine.disease, Phenotype, 10036 Medical Clinic, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Hand Deformities, Congenital

وصف الملف: Tatton-BrownK,_2013.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b58432c13aa4c2e43d94e4e91488228Test
https://doi.org/10.1002/ajmg.a.36229Test

المؤلفون: Ana Berta Sousa, Joaquim Saraiva, Luisa Bonafé, G. Soares, Ana Medeira, M. Reis-Lima, Andrea Superti-Furga, Jorge Pinto-Basto, T Lourenço, Laureane Mittaz, Ana Maria Fortuna, Mafalda Barbosa

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

مصطلحات موضوعية: Male, Compound heterozygosity, Cohort Studies, Genotype, Child, Genetics (clinical), Genetics, 0303 health sciences, education.field_of_study, biology, Dwarfism/diagnosis, 030305 genetics & heredity, 3. Good health, Phenotype, Sulfate Transporters, Child, Preschool, Female, medicine.symptom, Adult, Adolescent, Achondrogenesis type 1B, Osteochondrodysplasias/diagnosis, Anion Transport Proteins, Population, HDE GEN, Dwarfism, SLC26A2, Osteochondrodysplasias, White People, Multiple epiphyseal dysplasia, Dwarfism/genetics, Young Adult, 03 medical and health sciences, medicine, Humans, Genetic Testing, education, Dwarfism/epidemiology, Alleles, Genetic Association Studies, 030304 developmental biology, Portugal, Osteochondrodysplasias/genetics, medicine.disease, Osteochondrodysplasia, Body Height, Radiography, Mutation, biology.protein, Diastrophic dysplasia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::424652ab0395df901c1d3af903543c8fTest
https://doi.org/10.1111/j.1399-0004.2010.01595.xTest

المؤلفون: Jorge A. Saraiva, M. M. Lima, Gabriela Soares, Almeida, Sónia Sousa, M. S. Rocha, I. Cordeiro, Lina Ramos, HG Santos, Ana Medeira, Anabela Correia, JP Marcelino, AB Campos-Xavier, Ana Berta Sousa

المصدر: Clinical Genetics. 75:150-156

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Thanatophoric Dysplasia, Adolescent, Thanatophoric dysplasia, Hypochondroplasia, Osteochondrodysplasias, Achondroplasia, Muenke syndrome, Cohort Studies, Genetics, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 3, Gene, Genetics (clinical), Aged, Portugal, business.industry, Genetic heterogeneity, Middle Aged, Fibroblast growth factor receptor 3, medicine.disease, Phenotype, Musculoskeletal Abnormalities, Child, Preschool, Mutation, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f11cd3ebb3127aea9b154cf6c1929dTest
https://doi.org/10.1111/j.1399-0004.2008.01123.xTest