Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

American Journal of Human Genetics

Volumn 90, Issue 4, 2012, Pages 628-635

  Scionti, Isabella ^a   Greco, Francesca ^a   Ricci, Giulia ^b   Govi, Monica ^a   Arashiro, Patricia ^c   Vercelli, Liliana ^d   Berardinelli, Angela ^e   Angelini, Corrado ^f   Antonini, Giovanni ^g   Cao, Michelangelo ^f   Di Muzio, Antonio ^h   Moggio, Maurizio ⁱ   Morandi, Lucia ^j   Ricci, Enzo ^k   Rodolico, Carmelo ^l   Ruggiero, Lucia ^m   Santoro, Lucio ^m   Siciliano, Gabriele ^b   Tomelleri, Giuliano ⁿ   Trevisan, Carlo Pietro ^f   Galluzzi, Giuliana ^o   Wright, Woodring ^p   Zatz, Mayana ^q   Tupler, Rossella ^a,r   more..

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY OF TURIN   (Italy)

^e UNIVERSITY OF PAVIA   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h UNIVERSITY OF CHIETI   (Italy)

ⁱ UNIVERSITY OF MILAN   (Italy)

^j DEPARTMENT OF NEUROSURGERY   (Italy)

^k FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^l UNIVERSITY OF MESSINA   (Italy)

^m UNIVERSITY OF NAPLES FEDERICO II   (Italy)

ⁿ UNIVERSITY OF VERONA   (Italy)

^o IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^p UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^q UNIVERSITY OF SÃO PAULO   (Brazil)

^r UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; CHROMOSOME 4Q; CONTROLLED STUDY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; HAPLOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; POPULATION RESEARCH; PRIORITY JOURNAL; TANDEM REPEAT;

ADULT; AGED; BRAZIL; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; GENETIC TESTING; HAPLOTYPES; HUMANS; ITALY; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; POLYMORPHISM, GENETIC; TANDEM REPEAT SEQUENCES;

EID: 84859478913     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.02.019     Document Type: Article

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