Literature DB >> 16938455

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.

R J L F Lemmers, M J R van der Wielen, E Bakker, R R Frants, S M van der Maarel.   

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Year:  2006        PMID： 16938455     DOI： 10.1016/j.nmd.2006.07.013

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  9 in total

1.  Hybridization analysis of D4Z4 repeat arrays linked to FSHD.

Authors:  Melanie Ehrlich; Kesmic Jackson; Koji Tsumagari; Pilar Camaño; Richard J F L Lemmers
Journal:  Chromosoma       Date:  2006-11-28       Impact factor: 4.316

2.  New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Authors:  Mouna Barat-Houari; Karine Nguyen; Rafaëlle Bernard; Céline Fernandez; Catherine Vovan; Corinne Bareil; Philippe Khau Van Kien; Delphine Thorel; Sylvie Tuffery-Giraud; Francis Vasseur; Shahram Attarian; Jean Pouget; Anne Girardet; Nicolas Lévy; Mireille Claustres
Journal:  Eur J Hum Genet       Date:  2009-11-25       Impact factor: 4.246

3.  Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Authors:  Richard J L F Lemmers; Jelle J Goeman; Patrick J van der Vliet; Merlijn P van Nieuwenhuizen; Judit Balog; Marianne Vos-Versteeg; Pilar Camano; Maria Antonia Ramos Arroyo; Ivonne Jerico; Mark T Rogers; Daniel G Miller; Meena Upadhyaya; Jan J G M Verschuuren; Adolfo Lopez de Munain Arregui; Baziel G M van Engelen; George W Padberg; Sabrina Sacconi; Rabi Tawil; Stephen J Tapscott; Bert Bakker; Silvère M van der Maarel
Journal:  Hum Mol Genet       Date:  2014-09-25       Impact factor: 6.150

4.  Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

Authors:  Judit Balog; Peter E Thijssen; Jessica C de Greef; Bharati Shah; Baziel G M van Engelen; Kyoko Yokomori; Stephen J Tapscott; Rabi Tawil; Silvère M van der Maarel
Journal:  Epigenetics       Date:  2012-06-01       Impact factor: 4.528

5.  SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

Authors:  Richard J L F Lemmers; Nienke van der Stoep; Patrick J van der Vliet; Steven A Moore; David San Leon Granado; Katherine Johnson; Ana Topf; Volker Straub; Teresinha Evangelista; Tahseen Mozaffar; Virginia Kimonis; Natalie D Shaw; Rita Selvatici; Alessandra Ferlini; Nicol Voermans; Baziel van Engelen; Sabrina Sacconi; Rabi Tawil; Meindert Lamers; Silvère M van der Maarel
Journal:  J Med Genet       Date:  2019-06-26       Impact factor: 6.318

6.  Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.

Authors:  Rianne J M Goselink; Tim H A Schreuder; Nens van Alfen; Imelda J M de Groot; Merel Jansen; Richard J L F Lemmers; Patrick J van der Vliet; Nienke van der Stoep; Thomas Theelen; Nicol C Voermans; Silvère M van der Maarel; Baziel G M van Engelen; Corrie E Erasmus
Journal:  Ann Neurol       Date:  2018-10-16       Impact factor: 10.422

7.  Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study.

Authors:  Zhiqiang Wang; Liangliang Qiu; Minting Lin; Long Chen; Fuze Zheng; Lin Lin; Feng Lin; Zhixian Ye; Xiaodan Lin; Junjie He; Lili Wang; Xin Lin; Qifang He; Wanjin Chen; Yi Lin; Ying Fu; Ning Wang
Journal:  Lancet Reg Health West Pac       Date:  2021-11-22

Review 8.  Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.

Authors:  Valerio Caputo; Domenica Megalizzi; Carlo Fabrizio; Andrea Termine; Luca Colantoni; Carlo Caltagirone; Emiliano Giardina; Raffaella Cascella; Claudia Strafella
Journal:  Cells       Date:  2022-08-29       Impact factor: 7.666

9.  Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy.

Authors:  Chang-Seok Ki; Seung-Tae Lee; Kyung-Sook Kim; Jong-Won Kim; Yoon-Ho Hong; Jung-Joon Sung; Kyung Seok Park; Kwang-Woo Lee
Journal:  J Korean Med Sci       Date:  2008-12-23       Impact factor: 2.153
  9 in total

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