المؤلفون: Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ea2180d6616342c0a12f6aeb64c93bba

المؤلفون: Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Achondroplasia, Registry, Real-world data, Real-world evidence, Growth, Quality of life, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/ce49780aedce497cb9c4ad067e8be933

المؤلفون: Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: exome sequencing (ES), chromosomal microarray, prenatal, fetal, diagnostic yield, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1099995/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/cfb986b66f2e4ab7a0d4424ced7c5602

المؤلفون: Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach, Pierre-Henry Roux-Levy, Laurent Demougeot, Lilia Ben Slama, Paul Landais, the AnDDI-Rares network, Anne-Sophie Jannot, Christine Binquet, Arnaud Sandrin, Alain Verloes, Laurence Faivre

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

مصطلحات موضوعية: Rare disease, Developmental disorders, Data warehouse, Epidemiology, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/216dd0ccc9184791b1c6f53a91e40c0a

المؤلفون: Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, Tiffany Busa, Maude Grelet, Chantal Missirian, Sabine Sigaudy, Nicole Philip, France Leturcq, Nicolas Lévy, Martin Krahn, Marc Bartoli

المصدر: Genes; Volume 13; Issue 7; Pages: 1277

مصطلحات موضوعية: genetics, pathological mechanisms, DMD, deletion, exon skipping, AON, muscular dystrophy, myopathy, therapy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13071277

الاتاحة: https://doi.org/10.3390/genes13071277

المؤلفون: Claude Messiaen (11233482), Caroline Racine (11233485), Ahlem Khatim (11233488), Louis Soussand (11233491), Sylvie Odent (689615), Didier Lacombe (289463), Sylvie Manouvrier (327682), Patrick Edery (625611), Sabine Sigaudy (3181200), David Geneviève (11233494), Christel Thauvin-Robinet (558271), Laurent Pasquier (5875448), Florence Petit (4260166), Massimiliano Rossi (669874), Marjolaine Willems (8882330), Tania Attié-Bitach (3181167), Pierre-Henry Roux-Levy (11233497), Laurent Demougeot (341284), Lilia Ben Slama (11233500), Paul Landais (3743092), Anne-Sophie Jannot (286187), Christine Binquet (403042), Arnaud Sandrin (8222703), Alain Verloes (330238), Laurence Faivre (397333)

مصطلحات موضوعية: Medicine, Biotechnology, Ecology, Immunology, Cancer, Science Policy, Infectious Diseases, Rare disease, Developmental disorders, Data warehouse, Epidemiology

Relation: https://figshare.com/articles/presentation/Additional_file_2_of_10_years_of_CEMARA_database_in_the_AnDDI-Rares_network_a_unique_resource_facilitating_research_and_epidemiology_in_developmental_disorders_in_France/15110031

الاتاحة: https://doi.org/10.6084/m9.figshare.15110031.v1

المؤلفون: Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano, Khaoula Khachnaoui, Godelieve Morel, Sarah Grotto, Julia Sophie, Céline Poirsier, James Lespinasse, Laurent Alric, Patrick Calvas, Gihane Chalhoub, Valérie Layet, Arnaud Molin, Cindy Colson, Luisa Marsili, Patrick Edery, Nicolas Lévy, Annachiara De Sandre-Giovannoli

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: Progeroid, Panel, Pathogenic,variant, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/5b8ec6fec4c7421196987198b3d889a0

المؤلفون: Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello

المصدر: The American Journal of Human Genetics. 110:681-690

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55945c53254c4d34de031af05e90375a
https://doi.org/10.1016/j.ajhg.2023.03.005

المؤلفون: Claude Messiaen (11233482), Caroline Racine (11233485), Ahlem Khatim (11233488), Louis Soussand (11233491), Sylvie Odent (689615), Didier Lacombe (289463), Sylvie Manouvrier (327682), Patrick Edery (625611), Sabine Sigaudy (3181200), David Geneviève (11233494), Christel Thauvin-Robinet (558271), Laurent Pasquier (5875448), Florence Petit (4260166), Massimiliano Rossi (669874), Marjolaine Willems (8882330), Tania Attié-Bitach (3181167), Pierre-Henry Roux-Levy (11233497), Laurent Demougeot (341284), Lilia Ben Slama (11233500), Paul Landais (3743092), Anne-Sophie Jannot (286187), Christine Binquet (403042), Arnaud Sandrin (8222703), Alain Verloes (330238), Laurence Faivre (397333)

مصطلحات موضوعية: Medicine, Biotechnology, Ecology, Immunology, Cancer, Science Policy, Infectious Diseases, Rare disease, Developmental disorders, Data warehouse, Epidemiology

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_10_years_of_CEMARA_database_in_the_AnDDI-Rares_network_a_unique_resource_facilitating_research_and_epidemiology_in_developmental_disorders_in_France/15110028

الاتاحة: https://doi.org/10.6084/m9.figshare.15110028.v1

المؤلفون: Claude Messiaen (11233482), Caroline Racine (11233485), Ahlem Khatim (11233488), Louis Soussand (11233491), Sylvie Odent (689615), Didier Lacombe (289463), Sylvie Manouvrier (327682), Patrick Edery (625611), Sabine Sigaudy (3181200), David Geneviève (11233494), Christel Thauvin-Robinet (558271), Laurent Pasquier (5875448), Florence Petit (4260166), Massimiliano Rossi (669874), Marjolaine Willems (8882330), Tania Attié-Bitach (3181167), Pierre-Henry Roux-Levy (11233497), Laurent Demougeot (341284), Lilia Ben Slama (11233500), Paul Landais (3743092), Anne-Sophie Jannot (286187), Christine Binquet (403042), Arnaud Sandrin (8222703), Alain Verloes (330238), Laurence Faivre (397333)

مصطلحات موضوعية: Medicine, Biotechnology, Ecology, Immunology, Cancer, Science Policy, Infectious Diseases, Rare disease, Developmental disorders, Data warehouse, Epidemiology

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_10_years_of_CEMARA_database_in_the_AnDDI-Rares_network_a_unique_resource_facilitating_research_and_epidemiology_in_developmental_disorders_in_France/15110037

الاتاحة: https://doi.org/10.6084/m9.figshare.15110037.v1

المؤلفون: Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Maillard, Cécile Barbance, Fanny Morice-Picard, Sabine Sigaudy, Olga Glazunova, Lena Damaj, Valérie Layet, Chloé Quelin, Brigitte Gilbert-Dussardier, Frédérique Audic, Hélène Dollfus, Anne-Marie Guerrot, James Lespinasse, Sophie Julia, Marie-Christine Vantyghem, Magali Drouard, Marilyn Lackmy, Bruno Leheup, Yves Alembik, Alexia Lemaire, Patrick Nitschké, Florence Petit, Anne Dieux Coeslier, Eugénie Mutez, Alain Taieb, Mélanie Fradin, Yline Capri, Hala Nasser, Lyse Ruaud, Benjamin Dauriat, Sylvie Bourthoumieu, David Geneviève, Séverine Audebert-Bellanger, Mathilde Nizon, Radka Stoeva, Geoffroy Hickman, Gaël Nicolas, Juliette Mazereeuw-Hautier, Arnaud Jannic, Salah Ferkal, Béatrice Parfait, Michel Vidaud, members of the NF France Network, Pierre Wolkenstein, Eric Pasmant

المصدر: Cancers; Volume 13; Issue 12; Pages: 2963

مصطلحات موضوعية: neurofibromatosis type 1, NF1, NF1 deletion, genotype–phenotype correlation, neurofibromas, NFs, malignant peripheral nerve sheath tumors, MPNSTs, tumor predisposition, learning disabilities, dysmorphism, skeletal abnormalities, cardiovascular abnormalities

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/cancers13122963

الاتاحة: https://doi.org/10.3390/cancers13122963

المؤلفون: Raphaëlle Eydoux, Emmanuelle Lesieur, Julie Blanc, Nadine Girard, Claude D’ercole, Sabine Sigaudy, Kathia Chaumoitre, Florence Bretelle

المصدر: Fetal Diagnosis and Therapy. 50:37-46

مصطلحات موضوعية: Embryology, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Radiology, Nuclear Medicine and imaging, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::52658ec9a5feb84d756da9c9cb1215eb
https://doi.org/10.1159/000528906

المؤلفون: Cornélie Suard, Audrey Flori, Florent Paoli, Anderson Loundou, Virginie Fouilloux, Sabine Sigaudy, Fabrice Michel, Julie Antomarchi, Pamela Moceri, Véronique Paquis-Flucklinger, Claude D'Ercole, Florence Bretelle

المصدر: PLoS ONE, Vol 15, Iss 10, p e0239476 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/4e41921b89d14e97bc6c8db67968bd0a

المؤلفون: Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine AUDEBERT-BELLANGER, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noelle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne-Sophie Denommé-Pichon, Christel Depienne, Anne Dieux Coeslier, Christèle Dubourg, Patrick Edery, salima EL CHEHADEH, Laurence Faivre, Mélanie FRADIN, Aurore Garde, David Geneviève, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Ines HARZALLAH, Delphine Héron, Bertrand Isidor, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaetan Lesca, James Lespinasse, Jonathan Levy, Stanislas Lyonnet, Godelieve Morel, Nolwenn Jean Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent PASQUIER, Laurine Perrin, Florence Petit, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quelin, Sylvia Quemener, Mélanie Rama, Marlène RIO, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale SAUGIER-VEBER, Thomas Smol, Sabine Sigaudy, Renaud TOURAINE, Frédéric Tran-Mau-Them, Aurélien Trimouille, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2c59bc993669dbcd0685342c07953eee
https://doi.org/10.21203/rs.3.rs-2924104/v1

المؤلفون: Robert Olaso, Adeline Prost, Anne-Sophie Denommé-Pichon, Magali Gorce, Anne Boland, Mélanie Fradin, Magalie Barth, Mathilde Nizon, Antonio Vitobello, Dominique Bonneau, Bertrand Isidor, Christel Thauvin-Robinet, Frédéric Tran Mau-Them, Victor Couturier, Caroline Racine, Céline Besse, Marie Vincent, Bertrand Fin, Yline Capri, Alban Ziegler, Ange-Line Bruel, Yannis Duffourd, Christophe Philippe, P. Callier, Sébastien Moutton, Aurore Garde, Médéric Jeanne, Annick Toutain, Sophie Nambot, Delphine Bacq-Daian, Charlotte Poë, Emilie Tisserant, Aurélien Juven, Julien Van-Gils, Tiffany Busa, Laurent Pasquier, Sabine Sigaudy, Arthur Sorlin, Thibaud Jouan, Philippine Garret, Corinne Chantegret, Julian Delanne, Cyril Flamant, Alinoë Lavillaureix, Clement Prouteau, Paul Rollier, Laurence Faivre, Jean-François Deleuze

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Protocol (science), Hospital network, medicine.medical_specialty, business.industry, Infant, Newborn, Infant, Pilot Projects, Context (language use), Disease, Hospitals, Article, Intensive Care Units, Intensive care, Genetics, medicine, Etiology, Feasibility Studies, Humans, Prospective Studies, Duration (project management), Child, Intensive care medicine, business, Genetics (clinical), Blood sampling

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a96c47fea7bf31535b63687ed6bc425c
https://doi.org/10.1038/s41431-021-00998-4

المؤلفون: Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, exome sequencing (ES), chromosomal microarray, prenatal, fetal, diagnostic yield

Relation: https://figshare.com/articles/dataset/Table1_Prenatal_diagnosis_by_trio_exome_sequencing_in_fetuses_with_ultrasound_anomalies_A_powerful_diagnostic_tool_xlsx/22321843

الاتاحة: https://doi.org/10.3389/fgene.2023.1099995.s001
https://figshare.com/articles/dataset/Table1_Prenatal_diagnosis_by_trio_exome_sequencing_in_fetuses_with_ultrasound_anomalies_A_powerful_diagnostic_tool_xlsx/22321843

المؤلفون: Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Catherine Garel, Malek Louha, Emmanuelle Lacaze, Frédérique Audic-Gérard, Magali Barth, Patrick Berquin, Dominique Bonneau, Frédéric Bourdain, Tiffany Busa, Estelle Colin, Jean-Marie Cuisset, Vincent Des Portes, Nathalie Dorison, Christine Francannet, Bénédicte Héron, Cécile Laroche, Marine Lebrun, Julia Métreau, Sylvie Odent, Laurent Pasquier, Yaumara Perdomo Trujillo, Laurine Perrin, Lucile Pinson, François Rivier, Sabine Sigaudy, Christel Thauvin-Robinet, Ulrike Walther Louvier, Olivier Labayle, Diana Rodriguez, Stéphanie Valence, Lydie Burglen

المساهمون: CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Amiens-Picardie, CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de référence Maladies Rares CLAD-Ouest [Rennes], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108754. ⟨10.1136/jmg-2022-108754⟩

مصطلحات موضوعية: phenotype, genotype, [SDV]Life Sciences [q-bio], cerebellar diseases, Genetics, nervous system malformations, Genetics (clinical), genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdd9d723f406e4699bfc181bb3ad558d
https://hal.science/hal-03837222/document

المؤلفون: Tiffany Busa, Anaïs Brassier, Agathe Roubertie, Bénédicte Héron, M. Tardieu, Stéphane Marret, Roseline Froissart, Martine Doco-Fenzy, Céline Poirsier, Stéphanie Torre, Serge Rivera, Ivana Dabaj, Sabrina Vergnaud, Julien Baruteau, Marta Spodenkiewicz, Jean-Baptiste Arnoux, Bénédicte Sudrié-Arnaud, Brigitte Chabrol, Abdellah Tebani, Solaf M. Elsayed, Catherine Vanhulle, Sarah Snanoudj, Anne-Claire Brehin, Pascale Saugier-Veber, Aline Cano, Hélène Dranguet, Thierry Levade, Alice Goldenberg, Samia Pichard, Alice Kuster, Catherine Caillaud, Majed Al Khouri, Yves Alembik, Stéphanie Roggerone, Isabelle Desguerre, Nursel Elcioglu, François Labarthe, Sophie Coutant, Philippe Jouvencel, Bernard Drenou, Sandrine Roche, Laur Domitille, Alain Fouilhoux, Sabine Sigaudy, Christine Coubes, Soumeya Bekri, Leila Lazaro

المساهمون: Tebani, Abdellah, Sudrie-Arnaud, Benedicte, Dabaj, Ivana, Torre, Stephanie, Domitille, Laur, Snanoudj, Sarah, Heron, Benedicte, Levade, Thierry, Caillaud, Catherine, Vergnaud, Sabrina, Saugier-Veber, Pascale, Coutant, Sophie, Dranguet, Helene, Froissart, Roseline, Al Khouri, Majed, Alembik, Yves, Baruteau, Julien, Arnoux, Jean-Baptiste, Brassier, Anais, Brehin, Anne-Claire, Busa, Tiffany, Cano, Aline, Chabrol, Brigitte, Coubes, Christine, Desguerre, Isabelle, Doco-Fenzy, Martine, Drenou, Bernard, Elcioglu, Nursel H., Elsayed, Solaf, Fouilhoux, Alain, Poirsier, Celine, Goldenberg, Alice, Jouvencel, Philippe, Kuster, Alice, Labarthe, Francois, Lazaro, Leila, Pichard, Samia, Rivera, Serge, Roche, Sandrine, Roggerone, Stephanie, Roubertie, Agathe, Sigaudy, Sabine, Spodenkiewicz, Marta, Tardieu, Marine, Vanhulle, Catherine, Marret, Stephane, Bekri, Soumeya

المصدر: Journal of Medical Genetics. 59:377-384

مصطلحات موضوعية: EXPRESSION, 0301 basic medicine, Proband, FIBROBLASTS, brain diseases, ELASTIN-BINDING PROTEIN, GM1 GANGLIOSIDOSIS, Mucopolysaccharidosis, Genomics, G(M1) Ganglioside, Bioinformatics, 03 medical and health sciences, Exon, 0302 clinical medicine, metabolic, Pregnancy, Hydrops fetalis, genomics, Genetics, medicine, Humans, Gene, Genetics (clinical), Gangliosidosis, GM1, business.industry, Mucopolysaccharidosis IV, brain damage, ADULTS, GM1-GANGLIOSIDOSIS, beta-Galactosidase, medicine.disease, Phenotype, POLYMORPHISM, chronic, MORQUIO B DISEASE, 030104 developmental biology, IMPAIRED ELASTOGENESIS, GLB1, Mutation, central nervous system diseases, Female, business, GENE-MUTATIONS, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a62616e04708166070973bed70796eea
https://doi.org/10.1136/jmedgenet-2020-107510

المؤلفون: Madeleine, Harion, Leila, Qebibo, Audrey, Riquet, Christelle, Rougeot, Alexandra, Afenjar, Catherine, Garel, Malek, Louha, Emmanuelle, Lacaze, Frédérique, Audic-Gérard, Magali, Barth, Patrick, Berquin, Dominique, Bonneau, Frédéric, Bourdain, Tiffany, Busa, Estelle, Colin, Jean-Marie, Cuisset, Vincent, Des Portes, Nathalie, Dorison, Christine, Francannet, Bénédicte, Héron, Cécile, Laroche, Marine, Lebrun, Julia, Métreau, Sylvie, Odent, Laurent, Pasquier, Yaumara Perdomo, Trujillo, Laurine, Perrin, Lucile, Pinson, François, Rivier, Sabine, Sigaudy, Christel, Thauvin-Robinet, Ulrike Walther, Louvier, Olivier, Labayle, Diana, Rodriguez, Stéphanie, Valence, Lydie, Burglen

المصدر: Journal of medical genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7c1b850603130caa7309c09f8580aeff
https://pubmed.ncbi.nlm.nih.gov/36319078

المؤلفون: Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier

المصدر: PLoS Genetics, Vol 12, Iss 3, p e1005894 (2016)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4788435?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/80b9228e4b7a4d9cafbccaa2a58ded5c