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Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.
Ann Neurol. 1999 Jun;45(6):751-7. doi: 10.1002/1531-8249(199906)45:6<751::aid-ana9>3.0.co;2-m.
Ann Neurol. 1999.
PMID: 10360767
Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter.
Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L.
Deidda G, et al. Among authors: piazzo n.
Eur J Hum Genet. 1995;3(3):155-67. doi: 10.1159/000472291.
Eur J Hum Genet. 1995.
PMID: 7583041
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Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).
Cacurri S, Deidda G, Piazzo N, Novelletto A, La Cesa I, Servidei S, Galluzzi G, Wijmenga C, Frants RR, Felicetti L.
Cacurri S, et al. Among authors: piazzo n.
Hum Genet. 1994 Oct;94(4):367-74. doi: 10.1007/BF00201595.
Hum Genet. 1994.
PMID: 7927331
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Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).
Deidda G, Cacurri S, Piazzo N, Felicetti L.
Deidda G, et al. Among authors: piazzo n.
J Med Genet. 1996 May;33(5):361-5. doi: 10.1136/jmg.33.5.361.
J Med Genet. 1996.
PMID: 8733043
Free PMC article.
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Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy.
Cacurri S, Piazzo N, Deidda G, Vigneti E, Galluzzi G, Colantoni L, Merico B, Ricci E, Felicetti L.
Cacurri S, et al. Among authors: piazzo n.
Am J Hum Genet. 1998 Jul;63(1):181-90. doi: 10.1086/301906.
Am J Hum Genet. 1998.
PMID: 9634507
Free PMC article.
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Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease.
Galluzzi G, Deidda G, Cacurri S, Colantoni L, Piazzo N, Vigneti E, Ricci E, Servidei S, Merico B, Pachì A, Brambati B, Mangiola F, Tonali P, Felicetti L.
Galluzzi G, et al. Among authors: piazzo n.
Neuromuscul Disord. 1999 May;9(3):190-8. doi: 10.1016/s0960-8966(98)00116-3.
Neuromuscul Disord. 1999.
PMID: 10382915
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