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

المؤلفون: Vercelli L., Mele F., Ruggiero L., Sera F., Tripodi S., Ricci G., Vallarola A., Villa L., Govi M., Maranda L., Di Muzio A., Scarlato M., Bucci E., Maggi L., Rodolico C., Moggio M., Filosto M., Antonini G., Previtali S., Angelini C., Berardinelli A., Pegoraro E., Siciliano G., Tomelleri G., Santoro L., Mongini T., Tupler R.

المساهمون: Vercelli, L., Mele, F., Ruggiero, L., Sera, F., Tripodi, S., Ricci, G., Vallarola, A., Villa, L., Govi, M., Maranda, L., Di Muzio, A., Scarlato, M., Bucci, E., Maggi, L., Rodolico, C., Moggio, M., Filosto, M., Antonini, G., Previtali, S., Angelini, C., Berardinelli, A., Pegoraro, E., Siciliano, G., Tomelleri, G., Santoro, L., Mongini, T., Tupler, R.

مصطلحات موضوعية: Clinical categorie, D4Z4 reduced allele, Follow-up, FSHD, Follow-Up Studie, Human, Italy, Phenotype, Registrie, Muscular Dystrophy, Facioscapulohumeral

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32813049; info:eu-repo/semantics/altIdentifier/wos/WOS:000561058200002; volume:268; issue:1; firstpage:356; lastpage:366; numberofpages:11; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11577/3395082Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089530568

الإتاحة: https://doi.org/10.1007/s00415-020-10144-7Test
http://hdl.handle.net/11577/3395082Test

المؤلفون: Nikolic A., Jones T. I., Govi M., Mele F., Maranda L., Sera F., Ricci G., Ruggiero L., Vercelli L., Portaro S., Villa L., Fiorillo C., Maggi L., Santoro L., Antonini G., Filosto M., Moggio M., Angelini C., Pegoraro E., Berardinelli A., Maioli M. A., D'Angelo G., Di Muzio A., Siciliano G., Tomelleri G., D'Esposito M., Ragione F. D., Brancaccio A., Piras R., Rodolico C., Mongini T., Magdinier F., Salsi V., Jones P. L., Tupler R.

المساهمون: Nikolic, A., Jones, T. I., Govi, M., Mele, F., Maranda, L., Sera, F., Ricci, G., Ruggiero, L., Vercelli, L., Portaro, S., Villa, L., Fiorillo, C., Maggi, L., Santoro, L., Antonini, G., Filosto, M., Moggio, M., Angelini, C., Pegoraro, E., Berardinelli, A., Maioli, M. A., D'Angelo, G., Di Muzio, A., Siciliano, G., Tomelleri, G., D'Esposito, M., Ragione, F. D., Brancaccio, A., Piras, R., Rodolico, C., Mongini, T., Magdinier, F., Salsi, V., Jones, P. L., Tupler, R.

مصطلحات موضوعية: D4Z4 reduced allele, DNA methylation, FSHD, genotype-phenotype correlation, molecular diagnosi, allele, biological variation, population, family, genetic predisposition to disease, human, muscular dystrophy, facioscapulohumeral, pedigree, ROC curve, epigenesis, genetic, epigenomic, genetic association studie, genotype, phenotype

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32290091; info:eu-repo/semantics/altIdentifier/wos/WOS:000535574200377; volume:21; issue:7; firstpage:2635; lastpage:2652; numberofpages:18; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11573/1529636Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083412946

الإتاحة: https://doi.org/10.3390/ijms21072635Test
http://hdl.handle.net/11573/1529636Test

المؤلفون: Salort-Campana, E., Fatehi, F., Beloribi-Djefaflia, S., Roche, S., Nguyen, K., Bernard, R., Cintas, P., Solé, G., Bouhour, F., Ollagnon, E., Sacconi, S., Echaniz-Laguna, A., Kuntzer, T., Levy, N., Magdinier, F., Attarian, S.

المصدر: International journal of molecular sciences, vol. 21, no. 6, pp. 2221

مصطلحات موضوعية: Adult, Alleles, Attention, Cross-Sectional Studies, DNA Methylation, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Muscular Dystrophy, Facioscapulohumeral/diagnosis, Facioscapulohumeral/genetics, Penetrance, Phenotype, Repetitive Sequences, Nucleic Acid, Severity of Illness Index, FSHD, Facioscapulohumeral muscular dystrophy, association, correlation, methylation

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32210100; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5C6CF11416921; https://serval.unil.ch/notice/serval:BIB_5C6CF1141692Test; urn:issn:1422-0067; https://serval.unil.ch/resource/serval:BIB_5C6CF1141692.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5C6CF11416921Test

الإتاحة: https://doi.org/10.3390/ijms21062221Test
https://serval.unil.ch/notice/serval:BIB_5C6CF1141692Test
https://serval.unil.ch/resource/serval:BIB_5C6CF1141692.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5C6CF11416921Test

المؤلفون: Emmanuelle Salort-Campana, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, Rafaelle Bernard, Pascal Cintas, Guilhem Solé, Françoise Bouhour, Elisabeth Ollagnon, Sabrina Sacconi, Andoni Echaniz-Laguna, Thierry Kuntzer, Nicolas Levy, Frédérique Magdinier, Shahram Attarian

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 6, p 2221 (2020)

مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, fshd, phenotype, genotype, association, correlation, methylation, Biology (General), QH301-705.5, Chemistry, QD1-999

العلاقة: https://www.mdpi.com/1422-0067/21/6/2221Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/e336bd6ac652411bb115097715956adfTest

الإتاحة: https://doi.org/10.3390/ijms21062221Test
https://doaj.org/article/e336bd6ac652411bb115097715956adfTest

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

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. WILEY

مصطلحات 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

المؤلفون: RICCI, GIULIA, Ruggiero, Lucia, Vercelli, Liliana, Sera, Francesco, NIKOLIC, ANA, GOVI, Monica, MELE, FABIANO, DAOLIO, JESSICA, Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Bucci, Elisabetta, Cao, Michelangelo, D’Amico, Maria Chiara, D’Angelo, Grazia, Di Muzio, Antonio, Filosto, Massimiliano, Maggi, Lorenzo, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Pegoraro, Elena, Rodolico, Carmelo, Santoro, Lucio, SICILIANO, GABRIELE, Tomelleri, Giuliano, Villa, Luisa, TUPLER, Rossella

المساهمون: Ricci, Giulia, Ruggiero, Lucia, Vercelli, Liliana, Sera, Francesco, Nikolic, Ana, Govi, Monica, Mele, Fabiano, Daolio, Jessica, Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Bucci, Elisabetta, Cao, Michelangelo, D’Amico, Maria Chiara, D’Angelo, Grazia, Di Muzio, Antonio, Filosto, Massimiliano, Maggi, Lorenzo, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Pegoraro, Elena, Rodolico, Carmelo, Santoro, Lucio, Siciliano, Gabriele, Tomelleri, Giuliano, Villa, Luisa, Tupler, Rossella

مصطلحات موضوعية: Clinical phenotype, Diagnostic criteria, Disease classification, Disease registry, FSHD, Adult, Age of Onset, Aged, Family, Female, Genetic Predisposition to Disease, Human, Italy, Male, Middle Aged, Motor Activity, Muscle Strength, Muscular Dystrophy, Facioscapulohumeral, Neurologic Examination, Observer Variation, Phenotype, Registrie, Neurology, Neurology (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27126453; info:eu-repo/semantics/altIdentifier/wos/WOS:000377450700018; volume:263; issue:6; firstpage:1204; lastpage:1214; numberofpages:11; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11380/1135869Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964546762

الإتاحة: https://doi.org/10.1007/s00415-016-8123-2Test
http://hdl.handle.net/11380/1135869Test

المؤلفون: Takako I. Jones, Andreia M Nunes, M. O. Ramírez, Peter L. Jones

المصدر: Disease Models & Mechanisms, Vol 14, Iss 8 (2021)
Disease Models & Mechanisms
article-version (VoR) Version of Record

مصطلحات موضوعية: musculoskeletal diseases, Genetically modified mouse, Neuromuscular Disease Models, congenital, hereditary, and neonatal diseases and abnormalities, Neuroscience (miscellaneous), Medicine (miscellaneous), Biology, Skeletal Myocytes, Bioinformatics, General Biochemistry, Genetics and Molecular Biology, fshd, Mice, Immunology and Microbiology (miscellaneous), DUX4, microRNA, dux4, Pathology, medicine, Animals, Humans, RB1-214, Facioscapulohumeral muscular dystrophy, Muscle, Skeletal, Homeodomain Proteins, Skeletal muscle, medicine.disease, Phenotype, Muscular Dystrophy, Facioscapulohumeral, nervous system diseases, MicroRNAs, medicine.anatomical_structure, biomarker, Medicine, Biomarker (medicine), mir-206, Biomarkers, Research Article, mirna

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc6f431a5b82fa0033d275635b0deaadTest
https://doi.org/10.1242/dmm.049016Test

المؤلفون: Richard J.L.F. Lemmers, Oebele F. Brouwer, Nicol C. Voermans, Baziel G.M. van Engelen, George W. Padberg, Corrie E. Erasmus, Karlien Mul, Caroline R. van Kernebeek, Rianne J.M. Goselink, Silvère M. van der Maarel

المصدر: European Journal of Paediatric Neurology, 22(5), 782-785. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 22, 5, pp. 782-785
European Journal of Paediatric Neurology, 22, 782-785

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Infantile FSHD, Adolescent, Hearing loss, Natural history, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Physical examination, Facioscapulohumeral dystrophy, DIAGNOSIS, 03 medical and health sciences, 0302 clinical medicine, Wheelchair, Intellectual disability, Medicine, Humans, Age of Onset, Variable disease severity, medicine.diagnostic_test, business.industry, Dystrophy, Early-onset FSHD, General Medicine, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, MUSCULAR-DYSTROPHY, Muscular Dystrophy, Facioscapulohumeral, Clinical trial, 030104 developmental biology, Phenotype, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Neuromuscular disorders, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca33a22fb1b90995a41c02f559f9f78cTest
https://doi.org/10.1016/j.ejpn.2018.04.013Test