Literature DB >> 9608567

44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands.

P W Lunt1.   

Abstract

Entities:  

Mesh：

Year:  1998        PMID： 9608567     DOI： 10.1016/s0960-8966(98)00012-1

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


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  15 in total

1.  De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

Authors:  S M van der Maarel; G Deidda; R J Lemmers; P G van Overveld; M van der Wielen; J E Hewitt; L Sandkuijl; B Bakker; G J van Ommen; G W Padberg; R R Frants
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).

Authors:  S M van der Maarel; G Deidda; R J Lemmers; E Bakker; M J van der Wielen; L Sandkuijl; J E Hewitt; G W Padberg; R R Frants
Journal:  J Med Genet       Date:  1999-11       Impact factor: 6.318

3.  Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.

Authors:  Richard J L F Lemmers; Petra G M Van Overveld; Lodewijk A Sandkuijl; Harry Vrieling; George W Padberg; Rune R Frants; Silvère M van der Maarel
Journal:  Am J Hum Genet       Date:  2004-05-20       Impact factor: 11.025

4.  Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

Authors:  Zhi-Qiang Wang; Ning Wang; Silvere van der Maarel; Shen-Xing Murong; Zhi-Ying Wu
Journal:  Eur J Hum Genet       Date:  2010-08-25       Impact factor: 4.246

Review 5.  Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

Authors:  Mark Richards; Frédérique Coppée; Nick Thomas; Alexandra Belayew; Meena Upadhyaya
Journal:  Hum Genet       Date:  2011-10-09       Impact factor: 4.132

Review 6.  Current status and future prospect of FSHD region gene 1.

Authors:  Arman Kunwar Hansda; Ankit Tiwari; Manjusha Dixit
Journal:  J Biosci       Date:  2017-06       Impact factor: 1.826

Review 7.  Current Therapeutic Approaches in FSHD.

Authors:  Leo H Wang; Rabi Tawil
Journal:  J Neuromuscul Dis       Date:  2021

Review 8.  Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.

Authors:  Sanne C C Vincenten; Nienke Van Der Stoep; Aimée D C Paulussen; Karlien Mul; Umesh A Badrising; Marjolein Kriek; Olivier W H Van Der Heijden; Baziel G M Van Engelen; Nicol C Voermans; Christine E M De Die-Smulders; Saskia Lassche
Journal:  Clin Genet       Date:  2021-08-01       Impact factor: 4.296

9.  FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach.

Authors:  Nikolay Vladimirovich Zernov; Anna Alekseevna Guskova; Mikhail Yurevich Skoblov
Journal:  Diagnostics (Basel)       Date:  2021-05-28

10.  Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

Authors:  Giulia Ricci; Isabella Scionti; Francesco Sera; Monica Govi; Roberto D'Amico; Ilaria Frambolli; Fabiano Mele; Massimiliano Filosto; Liliana Vercelli; Lucia Ruggiero; Angela Berardinelli; Corrado Angelini; Giovanni Antonini; Elisabetta Bucci; Michelangelo Cao; Jessica Daolio; Antonio Di Muzio; Rita Di Leo; Giuliana Galluzzi; Elisabetta Iannaccone; Lorenzo Maggi; Valerio Maruotti; Maurizio Moggio; Tiziana Mongini; Lucia Morandi; Ana Nikolic; Ebe Pastorello; Enzo Ricci; Carmelo Rodolico; Lucio Santoro; Maura Servida; Gabriele Siciliano; Giuliano Tomelleri; Rossella Tupler
Journal:  Brain       Date:  2013-09-11       Impact factor: 13.501
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