Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 18 (of 18 Records) |
| Query Trace: Facioscapulohumeral Muscular Dystrophy[original query] |
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| Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005 Aug 22 (4): 380-2. Zhang Yu-zhou, Sun Shun-chang, Wu Hua-cheng, Fan Qi-shi, Song Yong-jian, Yu Wen, Jeanpierre Marc, Urtizberea J Ando |
| LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain : a journal of neurology 2005 Apr 128 (Pt 4): 732-42. Sáenz A, Leturcq F, Cobo A M, Poza J J, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan J C, Urtizberea J A, Martí-Massó J F, López de Munain |
| [Characteristics of gene structure in facioscapulohumeral muscular dystrophy-related 4q35 subtelomere and genotype-phenotype correlation in Chinese Han population]. Zhonghua yi xue za zhi 2009 Feb 89 (5): 5. Wang ZQ, Wu ZY, Wang N, Lin MT, Murong SX |
| Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. American journal of human genetics 2012 Apr 90 (4): 628-35. Scionti Isabella, Greco Francesca, Ricci Giulia, Govi Monica, Arashiro Patricia, Vercelli Liliana, Berardinelli Angela, Angelini Corrado, Antonini Giovanni, Cao Michelangelo, Di Muzio Antonio, Moggio Maurizio, Morandi Lucia, Ricci Enzo, Rodolico Carmelo, Ruggiero Lucia, Santoro Lucio, Siciliano Gabriele, Tomelleri Giuliano, Trevisan Carlo Pietro, Galluzzi Giuliana, Wright Woodring, Zatz Mayana, Tupler Rossel |
| Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy. Neurology 2013 Oct 81 (16): 1374-7. Lutz Katie L, Holte Lenore, Kliethermes Stephanie A, Stephan Carrie, Mathews Katherine |
| Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain : a journal of neurology 2013 Nov 136 (Pt 11): 3408-17. Ricci Giulia, Scionti Isabella, Sera Francesco, Govi Monica, D'Amico Roberto, Frambolli Ilaria, Mele Fabiano, Filosto Massimiliano, Vercelli Liliana, Ruggiero Lucia, Berardinelli Angela, Angelini Corrado, Antonini Giovanni, Bucci Elisabetta, Cao Michelangelo, Daolio Jessica, Di Muzio Antonio, Di Leo Rita, Galluzzi Giuliana, Iannaccone Elisabetta, Maggi Lorenzo, Maruotti Valerio, Moggio Maurizio, Mongini Tiziana, Morandi Lucia, Nikolic Ana, Pastorello Ebe, Ricci Enzo, Rodolico Carmelo, Santoro Lucio, Servida Maura, Siciliano Gabriele, Tomelleri Giuliano, Tupler Rossel |
| New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients. Chinese medical journal 2015 Jul 128 (13): 1707-13. Lin Feng, Wang Zhi-Qiang, Lin Min-Ting, Murong Shen-Xing, Wang Ni |
| Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1. Clinical genetics 2018 Sep . Mul Karlien, Voermans Nicol C, Lemmers Richard J L F, Jonker Marianne A, van der Vliet Patrick J, Padberg George W, van Engelen Baziel G M, van der Maarel Silvère M, Horlings Corinne G |
| Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation. Neuromuscular disorders : NMD 2018 2 28 (4): 303-314. Alavi Afagh, Esmaeili Sara, Nafissi Shahriar, Kahrizi Kimia, Najmabadi Hosse |
| Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy. Neurology 2018 12 92 (4): e378-e385. Goselink Rianne J M, Mul Karlien, van Kernebeek Caroline R, Lemmers Richard J L F, van der Maarel Silvère M, Schreuder Tim H A, Erasmus Corrie E, Padberg George W, Statland Jeffrey M, Voermans Nicol C, van Engelen Baziel G |
| FSHD1 and FSHD2 form a disease continuum. Neurology 2019 4 92 (19): e2273-e2285. Sacconi Sabrina, Briand-Suleau Audrey, Gros Marilyn, Baudoin Christian, Lemmers Richard J L F, Rondeau Sophie, Lagha Nadira, Nigumann Pilvi, Cambieri Chiara, Puma Angela, Chapon Françoise, Stojkovic Tanya, Vial Christophe, Bouhour Françoise, Cao Michelangelo, Pegoraro Elena, Petiot Philippe, Behin Anthony, Marc Bras, Eymard Bruno, Echaniz-Laguna Andoni, Laforet Pascal, Salviati Leonardo, Jeanpierre Marc, Cristofari Gaël, van der Maarel Silvère |
| The variability of SMCHD1 gene in FSHD patients: evidence of new mutations. Human molecular genetics 2019 10 28 (23): 3912-3920. Strafella Claudia, Caputo Valerio, Galota Rosaria Maria, Campoli Giulia, Bax Cristina, Colantoni Luca, Minozzi Giulietta, Orsini Chiara, Politano Luisa, Tasca Giorgio, Novelli Giuseppe, Ricci Enzo, Giardina Emiliano, Cascella Raffael |
| Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention. International journal of molecular sciences 2020 3 21 (6): . Salort-Campana Emmanuelle, Fatehi Farzad, Beloribi-Djefaflia Sadia, Roche Stéphane, Nguyen Karine, Bernard Rafaelle, Cintas Pascal, Solé Guilhem, Bouhour Françoise, Ollagnon Elisabeth, Sacconi Sabrina, Echaniz-Laguna Andoni, Kuntzer Thierry, Levy Nicolas, Magdinier Frédérique, Attarian Shahr |
| [Analysis of D4Z4 mutation in a child with facioscapulohumeral muscular dystrophy presented initially as mental retardation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Feb 37 (2): 150-152. Tian Yang, Hou Chi, Yang Zhixiao, Cao Binbin, Zhang Wei, Chen Wenxio |
| Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy. Journal of neuromuscular diseases 2021 8 9 (1): 83-93. Gros Marilyn, Nunes Andreia M, Daoudlarian Douglas, Pini Jonathan, Martinuzzi Emanuela, Barbosa Susana, Ramirez Monique, Puma Angela, Villa Luisa, Cavalli Michele, Grecu Nicolae, Garcia Jérémy, Siciliano Gabriele, Solé Guilhem, Juntas-Morales Raul, Jones Peter L, Jones Takako, Glaichenhaus Nicolas, Sacconi Sabri |
| De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy. Clinical genetics 2022 10 103 (2): 242-246. Pini Sara, Napoli Floriana Maria, Tagliafico Enrico, La Marca Antonio, Bertucci Emma, Salsi Valentina, Tupler Rossel |
| Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients. Children (Basel, Switzerland) 2022 1 9 (1): . Konstantonis Dimitrios, Kekou Kyriaki, Papaefthymiou Petros, Vastardis Heleni, Konstantoni Nikoleta, Athanasiou Maria, Svingou Maria, Margariti Anastasia, Panousopoulou Angeli |
| Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping. Neurology. Genetics 2023 11 9 (6): e200107. Naga M Guruju, Vanessa Jump, Richard Lemmers, Silvere Van Der Maarel, Ruby Liu, Babi R Nallamilli, Suresh Shenoy, Alka Chaubey, Pratik Koppikar, Rajiv Rose, Satish Khadilkar, Madhuri Heg |
- Page last reviewed:Feb 1, 2024
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