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G Deidda

Explore the profile of G Deidda including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 24
Citations 469
Followers 0
Related Specialties
Genetics
Hematology
Neurology
Top 10 Co-Authors
L Felicetti
R R Frants
N Piazzo
S Cacurri
S M van der Maarel
A Novelletto
G W Padberg
E Vigneti
M Hafez
G Galluzzi
Published In
J Med Genet
Hum Genet
Haematologica
Arch Ital Urol Androl
Hum Mol Genet
Affiliations
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Recent Articles
1.
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
Giacomucci G, Monforte M, Diaz-Manera J, Mul K, Fernandez Torron R, Maggi L, et al.
Eur J Neurol . 2020 Jul; 27(12):2604-2615. PMID: 32697863
Background And Purpose: The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and clinical/molecular data....
2.
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers R, Van Deutekom J, et al.
J Med Genet . 2004 Nov; 41(11):826-36. PMID: 15520407
Background: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with partial deletion of the subtelomeric D4Z4 repeat array on chromosome 4qter. This chromosomal rearrangement may result in regional chromatin relaxation...
3.
FRG1P is localised in the nucleolus, Cajal bodies, and speckles
van Koningsbruggen S, Dirks R, Mommaas A, Onderwater J, Deidda G, Padberg G, et al.
J Med Genet . 2004 Apr; 41(4):e46. PMID: 15060122
No abstract available.
4.
Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity
van Overveld P, Lemmers R, Deidda G, Sandkuijl L, Padberg G, Frants R, et al.
Hum Mol Genet . 2000 Nov; 9(19):2879-84. PMID: 11092764
Chromosomal rearrangements occur more frequently in subtelomeric domains than in other regions of the genome and are often associated with human pathology. To further elucidate the plasticity of subtelomeric domains,...
5.
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10
van der Maarel S, Deidda G, Lemmers R, van Overveld P, van der Wielen M, Hewitt J, et al.
Am J Hum Genet . 2000 Jan; 66(1):26-35. PMID: 10631134
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by deletion of most copies of the 3.3-kb subtelomeric D4Z4 repeat array on chromosome 4q. The molecular mechanisms behind the deletion and...
6.
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
van der Maarel S, Deidda G, Lemmers R, Bakker E, van der Wielen M, Sandkuijl L, et al.
J Med Genet . 1999 Nov; 36(11):823-8. PMID: 10544225
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the size reduction of a polymorphic repeat array on 4q35. Probe p13E-11 recognises this chromosomal rearrangement and is generally used for diagnosis. However,...
7.
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, et al.
Neuromuscul Disord . 1999 Jun; 9(3):190-8. PMID: 10382915
In the majority of facioscapulohumeral muscular dystrophy (FSHD) families (about 95%) the genetic defect has been identified as a deletion of a variable number of KpnI repeats in the 4q35...
8.
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, et al.
Ann Neurol . 1999 Jun; 45(6):751-7. PMID: 10360767
Genotype analysis by using the p13E-11 probe and other 4q35 polymorphic markers was performed in 122 Italian facioscapulohumeral muscular dystrophy families and 230 normal controls. EcoRI-BlnI double digestion was routinely...
9.
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
Lemmers R, van der Maarel S, van Deutekom J, van der Wielen M, Deidda G, Dauwerse H, et al.
Hum Mol Genet . 1998 Jul; 7(8):1207-14. PMID: 9668160
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD) is causally related to a short Eco RI fragment detected by probe p13E-11. This remnant fragment is the result of a deletion...
10.
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, et al.
Am J Hum Genet . 1998 Jun; 63(1):181-90. PMID: 9634507
Physical mapping and in situ hybridization experiments have shown that a duplicated locus with a structural organization similar to that of the 4q35 locus implicated in facioscapulohumeral muscular dystrophy is...