المؤلفون: Stephanie Efthymiou, Julien Buratti, Farah Bibi, Omar Dabbagh, Perrine Charles, Julia Hoefele, Kristi J. Jones, Enrico Mingardo, Jeshurun C Kalanithy, Matias Wagner, Hessa S. Alsaif, Konrad Platzer, Henry Houlden, Jaya Punetha, Sandra T. Cooper, Jennifer E. Posey, Tikam Chand Dakal, Leigh B. Waddell, Holger Thiele, Elise Valkanas, Davut Pehlivan, Zeynep Coban Akdemir, Beth Hudson, Shahzad Haider, Haktan Bağış Erdem, Jawid M Fatih, Fowzan S. Alkuraya, Solveig Heide, Andreas Ziegler, Michelle Demos, Heiko Reutter, Paul R Mark, Dana Marafi, Vincenzo Salpietro, Steffen Syrbe, Meriel McEntagart, Delphine Héron, Ilaria Guella, Jennifer Burton, James R. Lupski, Natalia Dominik, Daniel G. MacArthur, Tipu Sultan, Wendy K. Chung, Annalisa Vetro, Ender Karaca, George E. Hoganson, Rhonda E. Schnur, Bhanupriya Dhabhai, Sarah A. O'Shea, Tadahiro Mitani, Volkan Okur, Emily C. Oates, Tobias T. Lindenberg, Renzo Guerrini, Benjamin Odermatt, Gabriel C. Dworschak, Öznur Yilmaz, Jill V. Hunter, Shalini N. Jhangiani, Boris Keren, Korbinian M. Riedhammer, Caroline Nava, Stanley Fahn, Reza Maroofian, Roy N. Alcalay

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Central nervous system, Nerve Tissue Proteins, Receptors, Cell Surface, Article, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Homologous chromosome, medicine, Missense mutation, Animals, Humans, Global developmental delay, Eye Abnormalities, Zebrafish, Genetics (clinical), Genetic Association Studies, Genetics, biology, biology.organism_classification, medicine.disease, Embryonic stem cell, Phenotype, ddc, 030104 developmental biology, medicine.anatomical_structure, Neurodevelopmental Disorders, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e56db81ddbe17b5bcfd5001ed9ed19Test
https://pubmed.ncbi.nlm.nih.gov/34054129Test

المؤلفون: Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub

المساهمون: MYO-SEQ Consortium, HUSLAB, HUS Children and Adolescents, Clinicum, Medicum, Claeys, Kristl

المصدر: Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: 0301 basic medicine, targeted exome analysis, Neuromuscular disease, Medizin, Anoctamins, 030105 genetics & heredity, Bioinformatics, 3124 Neurology and psychiatry, DNA sequencing, Article, 03 medical and health sciences, genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, 3123 Gynaecology and paediatrics, Exome Sequencing, Medicine, Humans, Exome, Gene, Genetics (clinical), Exome sequencing, SGCA, RYR1, Genetic heterogeneity, business.industry, Sciences bio-médicales et agricoles, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Glucosyltransferases, Human medicine, business

وصف الملف: 1 full-text file(s): application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb0b77bdff412d8ddab3c132a95c157Test
https://repository.uantwerpen.be/docstore/d:irua:4405Test

المؤلفون: Hemakumar M. Reddy, Satomi Mitsuhashi, Anthony A. Amato, Hart G.W. Lidov, Monkol Lek, Peter B. Kang, Elicia Estrella, Timothy W. Yu, Elise Valkanas, David M. Margulies, Basil T. Darras, Mustafa A. Salih, Kyung-Ah Cho, Louis M. Kunkel, Daniel G. MacArthur, Catherine A. Brownstein, Michael D. Jones

المصدر: Journal of human genetics

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Male, Duchenne muscular dystrophy, Biology, Article, 03 medical and health sciences, symbols.namesake, SGCG, 0302 clinical medicine, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Exome, Genetic Testing, Muscular dystrophy, Genetics (clinical), Exome sequencing, SGCA, Sanger sequencing, Base Sequence, Glycogen Storage Disease Type II, Sequence Analysis, DNA, medicine.disease, Congenital myopathy, Muscular Dystrophy, Facioscapulohumeral, United States, 3. Good health, Distal Myopathies, Muscular Dystrophy, Duchenne, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, symbols, Female, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e07d9476add8e76d0dac90bc7ea62d4Test
http://europepmc.org/articles/PMC5266644Test

المؤلفون: Mustafa A. Salih, Skylar A. Rizzo, Louis M. Kunkel, Elise Valkanas, Madhurima Saha, Monkol Lek, Peter B. Kang, Hemakumar M. Reddy, Satomi Mitsuhashi, Michael D. Jones, Maowia M. Mukhtar, Muddathir H. Hamad, Elicia Estrella, Ahlam A. Hamed, Daniel G. MacArthur, Kyung Ah Cho, Maha A. Elseed, Christina A. Pacak, Isabelle Draper, Silveli Suzuki-Hatano

المصدر: Physiological genomics. 50(11)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Physiology, Cellular respiration, Cell Respiration, Saudi Arabia, Biology, Animals, Genetically Modified, Myoblasts, Sudan, 03 medical and health sciences, Mice, 0302 clinical medicine, Genetics, medicine, Animals, Drosophila Proteins, Humans, Oxidoreductases Acting on Sulfur Group Donors, Mendelian disorders, Exome sequencing, Cells, Cultured, medicine.disease, Mitochondria, Muscle, Pedigree, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, Drosophila, Female, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a836d708d6d4271493f7ea2b30154627Test
https://pubmed.ncbi.nlm.nih.gov/30345904Test

المؤلفون: David R. Mowat, Taru Tukiainen, Himanshu Joshi, Ben Weisburd, Gina L. O'Grady, Elise Valkanas, Fathimath Faiz, Adam Bournazos, Simon Sadedin, Rebecca Gooding, Frances J. Evesson, Katherine R. Neas, Amanda Charlton, Hugo Sampaio, Michel Tchan, Kristi J. Jones, Monkol Lek, Nicole Graf, Jamie L. Marshall, Mark R. Davis, Charles Chan, Min-Xia Wang, Beryl B. Cummings, Daniel G. MacArthur, Alan Ma, Leigh B. Waddell, Samantha J. Bryen, Susan Arbuckle, Emily C. Oates, Sandra T. Cooper, Nigel F. Clarke, Sarah A. Sandaradura, Diane Kenwright, Michelle A. Farrar

المصدر: Neurology Genetics. 7:e554

مصطلحات موضوعية: musculoskeletal diseases, Genetics, Messenger RNA, Massive parallel sequencing, biology, RNA, medicine.disease, Complementary DNA, RNA splicing, biology.protein, medicine, Neurology (clinical), Muscular dystrophy, Dystrophin, Exome, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::84786fa6905974c6d00e8b619bc4f069Test
https://doi.org/10.1212/nxg.0000000000000554Test

المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck

المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscle

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test

المؤلفون: Elise Valkanas, Hon-Yin Brian Chung, Peter Farndon, Patricia M. Zerfas, Oliver Bartsch, Martin Zenker, Jeroen Bakkers, Alexander Hoischen, Feliciano J. Ramos, Eva Bermejo-Sánchez, Haigen Huang, Gijs van Haaften, Lynne A. Wolfe, Taylor Davis, Eduarda Morgana da Silva, Han G. Brunner, W. K. Jacyk, Bruno Dallapiccola, Laura Mazzanti, Cathy A. Stevens, Mieke M. van Haelst, Hanka Venselaar, Cornelius F. Boerkoel, Francesco Brancati, Cynthia J. Tifft, May Christine V. Malicdan, Nathalie Roche, Bert B.A. de Vries, Victor Evangelista de Faria Ferraz, Chyi-Chia Richard Lee, Brian P. Brooks, Farahnaz Sabbagh-Kermani, Federico Tessadori, Denny Schanze, Barbara N. Pusey, Ariana Kariminejad, Valerie Maduro, Janice Lee, Giovanna Zambruno, Shuo Lin, Cédric Le Caignec, Thomas C. Markello, Maria Tsokos, Shannon Marchegiani, Fabiana Martins, William A. Gahl, Anneke T. Vulto-van Silfhout

المساهمون: Other departments, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), MUMC+: DA Klinische Genetica (5), RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Marchegiani, Shannon, Davis, Taylor, Tessadori, Federico, Van Haaften, Gij, Brancati, Francesco, Hoischen, Alexander, Huang, Haigen, Valkanas, Elise, Pusey, Barbara, Schanze, Denny, Venselaar, Hanka, Vulto-Van Silfhout, Anneke T., Wolfe, Lynne A., Tifft, Cynthia J., Zerfas, Patricia M., Zambruno, Giovanna, Kariminejad, Ariana, Sabbagh-Kermani, Farahnaz, Lee, Janice, Tsokos, Maria G., Lee, Chyi-Chia R., Ferraz, Victor, Da Silva, Eduarda Morgana, Stevens, Cathy A., Roche, Nathalie, Bartsch, Oliver, Farndon, Peter, Bermejo-Sanchez, Eva, Brooks, Brian P., Maduro, Valerie, Dallapiccola, Bruno, Ramos, Feliciano J., Chung, Hon-Yin Brian, Le Caignec, Cédric, Martins, Fabiana, Jacyk, Witold K., Mazzanti, Laura, Brunner, Han G., Bakkers, Jeroen, Lin, Shuo, Malicdan, May Christine V., Boerkoel, Cornelius F., Gahl, William A., De Vries, Bert B.A., Van Haelst, Mieke M., Zenker, Martin, Markello, Thomas C., Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: American Journal of Human Genetics, 97, 1, pp. 99-110
Marchegiani, S, Davis, T, Tessadori, F, van Haaften, G, Brancati, F, Hoischen, A, Huang, H, Valkanas, E, Pusey, B, Schanze, D, Venselaar, H, Vulto-van Silfhout, A T, Wolfe, L A, Tifft, C J, Zerfas, P M, Zambruno, G, Kariminejad, A, Sabbagh-Kermani, F, Lee, J, Tsokos, M G, Lee, C-C R, Ferraz, V, da Silva, E M, Stevens, C A, Roche, N, Bartsch, O, Farndon, P, Bermejo-Sanchez, E, Brooks, B P, Maduro, V, Dallapiccola, B, Ramos, F J, Chung, H-Y B, Le Caignec, C, Martins, F, Jacyk, W K, Mazzanti, L, Brunner, H G, Bakkers, J, Lin, S, Malicdan, M C V, Boerkoel, C F, Gahl, W A, de Vries, B B A, van Haelst, M M, Zenker, M & Markello, T C 2015, ' Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes ', American journal of human genetics, vol. 97, no. 1, pp. 99-110 . https://doi.org/10.1016/j.ajhg.2015.05.017Test
American Journal of Human Genetics, 97, 99-110
American Journal of Human Genetics, 97(1), 99. Cell Press
American journal of human genetics, 97(1), 99-110. Cell Press
American Journal of Human Genetics, 97(1), 99-110. Cell Press
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Models, Molecular, Candidate gene, Hirsutism, Protein Conformation, HeLa Cell, medicine.disease_cause, Transcriptome, Twist transcription factor, Models, Genetics(clinical), Exome, Eye Abnormalities, Non-U.S. Gov't, Genetics (clinical), Zebrafish, Genetics, Mutation, Microscopy, Macrostomia, Setleis syndrome, Hypertelorism, Research Support, Non-U.S. Gov't, Hypertrichosi, Eyelid Disease, GENÉTICA, Phenotype, Eyelid Diseases, Abnormalities, Multiple, Sequence Analysis, Human, Chromatin Immunoprecipitation, Molecular Sequence Data, Mutation, Missense, Hypertrichosis, Amino Acid Sequence, Animals, Base Sequence, HeLa Cells, Humans, Electron, Missense, Repressor Proteins, DNA, Skin Abnormalities, Twist Transcription Factor, Molecular, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Research Support, Article, Frameshift mutation, Genetic, Ablepharon macrostomia syndrome, Skin Abnormalitie, medicine, Journal Article, Abnormalities, Multiple, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Animal, Twist-Related Protein 1, Sequence Analysis, DNA, Repressor Protein, medicine.disease, Eye Abnormalitie, Microscopy, Electron, sense organs, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]

وصف الملف: application/pdf; image/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1749856e024ae1fd6a1491db82f32077Test
https://doi.org/10.1016/j.ajhg.2015.05.017Test