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1دورية أكاديمية
المؤلفون: Shaw, Natalie, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère, Lemmers, Richard, van der Stoep, Nienke, Vliet, Patrick, Moore, Steven, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Kimonis, Virginia, Mozaffar, Tahseen
المصدر: Journal of Medical Genetics. 56(10)
مصطلحات موضوعية: ATPase domain, BAMS, D4Z4, DUX4, FSHD, SMCHD1, mutation spectrum, Adenosine Triphosphatases, Choanal Atresia, Chromosomal Proteins, Non-Histone, DNA Methylation, Female, Genetic Variation, Humans, Male, Microphthalmos, Muscular Dystrophy, Facioscapulohumeral, Mutation, Mutation, Missense, Nose, Protein Domains
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/32j9681gTest
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2دورية أكاديمية
المؤلفون: Lemmers, Richard JLF, van der Stoep, Nienke, Vliet, Patrick J van der, Moore, Steven A, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Mozaffar, Tahseen, Kimonis, Virginia, Shaw, Natalie D, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère M
المصدر: Journal of medical genetics. 56(10)
مصطلحات موضوعية: Nose, Humans, Muscular Dystrophy, Facioscapulohumeral, Choanal Atresia, Microphthalmos, Chromosomal Proteins, Non-Histone, DNA Methylation, Mutation, Mutation, Missense, Female, Male, Adenosine Triphosphatases, Genetic Variation, Protein Domains, ATPase domain, BAMS, D4Z4, DUX4, FSHD, SMCHD1, mutation spectrum, Genetics, Muscular Dystrophy, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Facioscapulohumeral Muscular Dystrophy, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0107b4rwTest
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3دورية أكاديمية
المؤلفون: Vincenten, S.C.C., Van der Stoep, N., Paulussen, A.D.C., Mul, K., Badrising, U.A., Kriek, M., Van der Heijden, O.W.H., Van Engelen, B.G.M., Voermans, N.C., De Die-Smulders, C.E.M., Lassche, S.
المصدر: Vincenten , S C C , Van der Stoep , N , Paulussen , A D C , Mul , K , Badrising , U A , Kriek , M , Van der Heijden , O W H , Van Engelen , B G M , Voermans , N C , De Die-Smulders , C E M & Lassche , S 2022 , ' Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease ' , Clinical Genetics , vol. 101 , no. 2 , pp. 149-160 . https://doi.org/10.1111/cge.14031Test
مصطلحات موضوعية: delivery, facioscapulohumeral muscular dystrophy, genetics, pregnancy, preimplantation genetic testing, prenatal diagnosis, NEUROMUSCULAR DISORDERS, SOMATIC MOSAICISM, D4Z4 REPEAT, FSHD, DIAGNOSIS, WOMEN, REARRANGEMENTS, PHENOTYPE, SMCHD1, REGION
الإتاحة: https://doi.org/10.1111/cge.14031Test
https://cris.maastrichtuniversity.nl/en/publications/93b9ae54-e50c-4e6f-b5c8-a9bfd7202d8cTest -
4دورية أكاديمية
المؤلفون: Amanda G. Mason, Roderick C. Slieker, Judit Balog, Richard J. L. F. Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N. Filippova, Enrico Ne, Rabi Tawil, Bas T. Heijmans, Stephen J. Tapscott, Silvère M. van der Maarel
المصدر: Skeletal Muscle, Vol 7, Iss 1, Pp 1-13 (2017)
مصطلحات موضوعية: SMCHD1, FSHD, Chromatin, Methylation, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13395-017-0129-7Test; https://doaj.org/toc/2044-5040Test
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المصدر: Clinical Genetics. 101(2):149-160
مصطلحات موضوعية: FSHD, prenatal diagnosis, SMCHD1, SOMATIC MOSAICISM, facioscapulohumeral muscular dystrophy, REARRANGEMENTS, WOMEN, DIAGNOSIS, PHENOTYPE, REGION, NEUROMUSCULAR DISORDERS, genetics, pregnancy, delivery, D4Z4 REPEAT, preimplantation genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od________83::3a229c50e3fef01ec12093dadad481c4Test
https://doi.org/10.1111/cge.14031Test -
6دورية أكاديمية
المؤلفون: Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM, Shaw DN
المساهمون: Lemmers, Rjlf, van der Stoep, N, Vliet, Pjv, Moore, Sa, San Leon Granado, D, Johnson, K, Topf, A, Straub, V, Evangelista, T, Mozaffar, T, Kimonis, V, Selvatici, R, Ferlini, A, Voermans, N, van Engelen, B, Sacconi, S, Tawil, R, Lamers, M, van der Maarel, Sm, Shaw, Dn
مصطلحات موضوعية: ATPase domain, BAMS, D4Z4, DUX4, FSHD, mutation spectrum, SMCHD1
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31243061; info:eu-repo/semantics/altIdentifier/wos/WOS:000514845400008; volume:56; issue:10; firstpage:693; lastpage:700; numberofpages:8; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11392/2407228Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068329890; https://jmg.bmj.com/content/56/10/693Test
الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106168Test
http://hdl.handle.net/11392/2407228Test
https://jmg.bmj.com/content/56/10/693Test -
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المؤلفون: Sikrová, D.
المساهمون: Maarel, S.M. van der, Balog, J., Geijsen, N., Clemens-Daxinger, L., Engelen, B. van, Bokhoven, J.H.L.M. van, Leiden University
المصدر: None
مصطلحات موضوعية: Base editing, FSHD, D4Z4, DNA methylation, SMCHD1, DUX4, LRIF1, Dux, Polyadenylation signal, Chromatin
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::597293701cb7b00c74a58ffc5e76c567Test
https://hdl.handle.net/1887/3497752Test -
8دورية أكاديمية
المؤلفون: Gordon, Christopher, Xue, Shifeng, Yigit, Gökhan, Filali, Hicham, Chen, Kelan, Rosin, Nadine, Yoshiura, Koh-Ichiro, Oufadem, Myriam, Beck, Tamara J, Mcgowan, Ruth, Magee, Alex C, Altmüller, Janine, Dion, Camille, Thiele, Holger, Gurzau, Alexandra D, Nurnberg, Peter, Meschede, Dieter, Mühlbauer, Wolfgang, Okamoto, Nobuhiko, Varghese, Vinod, Irving, Rachel, Sigaudy, Sabine, Williams, Denise, Ahmed, S Faisal, Bonnard, Carine, Kong, Mung Kei, Ratbi, Ilham, Fejjal, Nawfal, Fikri, Meriem, Elalaoui, Siham Chafai, Reigstad, Hallvard, Bole-Feysot, Christine, Nitschke, Patrick, Ragge, Nicola, Lévy, Nicolas, Tunçbilek, Gökhan, Teo, Audrey S M, Cunningham, Michael L, Sefiani, Abdelaziz, Kayserili, Hulya, Murphy, James M, Chatdokmaiprai, Chalermpong, Hillmer, Axel M, Wattanasirichaigoon, Duangrurdee, Lyonnet, Stanislas, Magdinier, Frédérique, Javed, Asif, Blewitt, Marnie E, Amiel, Jeanne, Wollnik, Bernd, Reversade, Bruno
المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Human Genetics, Nagasaki University, Department of Clinical Genetics, Leicester Royal Infirmary, University Hospitals Leicester-University Hospitals Leicester, Universität zu Köln = University of Cologne, Génétique Médicale et Génomique Fonctionnelle (GMGF), 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)-Centre National de la Recherche Scientifique (CNRS), 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), Plate Forme Paris Descartes de Bioinformatique (BIP-D), Université Paris Descartes - Paris 5 (UPD5), Department of Medical Genetics, Istanbul University, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010)
المصدر: ISSN: 1061-4036.
مصطلحات موضوعية: Bosma arhinia microphthalmia syndrome, SMCHD1, nasal development, FSHD, Epigenetics, Medical genetics, Genetic linkage study, Embryology, MESH: Animals, MESH: Cell Line, MESH: Female, MESH: Genetic Predisposition to Disease, MESH: Humans, MESH: Male, MESH: Mice, Inbred C57BL, MESH: Microphthalmos, MESH: Muscular Dystrophy, Facioscapulohumeral, MESH: Mutation, Missense, MESH: Nose, MESH: Xenopus laevis, MESH: Child, Preschool, MESH: Choanal Atresia, MESH: Chromosomal Proteins, Non-Histone, MESH: Epigenesis, Genetic
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28067911; hal-01617529; https://hal.science/hal-01617529Test; https://hal.science/hal-01617529/documentTest; https://hal.science/hal-01617529/file/ng.3765.pdfTest; PUBMED: 28067911
الإتاحة: https://doi.org/10.1038/ng.3765Test
https://hal.science/hal-01617529Test
https://hal.science/hal-01617529/documentTest
https://hal.science/hal-01617529/file/ng.3765.pdfTest -
9دورية أكاديمية
المؤلفون: Nguyen, Karine, Puppo, Francesca, Roche, Stéphane, Gaillard, Marie-Cécile, Chaix, Charlene, Lagarde, Arnaud, Pierret, Marjorie, Vovan, Catherine, Olschwang, Sylviane, Salort Campana, Emmanuelle, Attarian, Shahram, Bartoli, Marc, Bernard, Rafaelle, Magdinier, Frédérique, Lévy, Nicolas
المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), 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)-Centre National de la Recherche Scientifique (CNRS), 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), Hôpital Européen Fondation Ambroise Paré - Marseille, Département d'Oncologie Hôpital Clairval - Marseille, Hôpital Privé Clairval Marseille, Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone CHU - APHM (TIMONE)
المصدر: ISSN: 1059-7794.
مصطلحات موضوعية: minigene complementation assay (pCAS), D4Z4, FSHD, methylation, SMCHD1, Molecular Combing, Epigenetics, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28744936; hal-01614514; https://hal.science/hal-01614514Test; https://hal.science/hal-01614514/documentTest; https://hal.science/hal-01614514/file/humu23304%20%281%29.pdfTest; PUBMED: 28744936
الإتاحة: https://doi.org/10.1002/humu.23304Test
https://hal.science/hal-01614514Test
https://hal.science/hal-01614514/documentTest
https://hal.science/hal-01614514/file/humu23304%20%281%29.pdfTest -
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المؤلفون: Karlien Mul, Marjolein Kriek, Baziel G.M. van Engelen, Saskia Lassche, Umesh A. Badrising, Nicol C. Voermans, Olivier W.H. van der Heijden, Nienke van der Stoep, Aimee D C Paulussen, Christine E. M. de Die-Smulders, Sanne C. C. Vincenten
المصدر: Clinical Genetics, 101, 149-160
Clinical Genetics, 101, 2, pp. 149-160
Clinical Genetics, 101(2), 149-160. WILEYمصطلحات موضوعية: Male, Multifactorial Inheritance, Reproductive counseling, Disease, Bioinformatics, Severity of Illness Index, Inheritance Patterns, Medicine, Facioscapulohumeral muscular dystrophy, genetics, D4Z4 REPEAT, Genetics (clinical), REARRANGEMENTS, Pregnancy Outcome, WOMEN, Disease Management, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Penetrance, Muscular Dystrophy, Facioscapulohumeral, Phenotype, Female, pregnancy, delivery, preimplantation genetic testing, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, SOMATIC MOSAICISM, Clinical Decision-Making, facioscapulohumeral muscular dystrophy, Genetic Counseling, Prenatal diagnosis, DIAGNOSIS, Preimplantation genetic diagnosis, REGION, Diagnosis, Differential, NEUROMUSCULAR DISORDERS, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetic Association Studies, FSHD, Pregnancy, prenatal diagnosis, SMCHD1, business.industry, medicine.disease, Pregnancy Complications, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30298dec965d8f350bb49e2ddaed70eaTest
http://hdl.handle.net/2066/248860Test
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