Deidda G - Search Results

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.

van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR. van der Maarel SM, et al. Among authors: deidda g. Am J Hum Genet. 2000 Jan;66(1):26-35. doi: 10.1086/302730. Am J Hum Genet. 2000. PMID: 10631134 Free PMC article.

2

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.

Lemmers RJ, van der Maarel SM, van Deutekom JC, van der Wielen MJ, Deidda G, Dauwerse HG, Hewitt J, Hofker M, Bakker E, Padberg GW, Frants RR. Lemmers RJ, et al. Among authors: deidda g. Hum Mol Genet. 1998 Aug;7(8):1207-14. doi: 10.1093/hmg/7.8.1207. Hum Mol Genet. 1998. PMID: 9668160

3

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

van der Maarel SM, Deidda G, Lemmers RJ, Bakker E, van der Wielen MJ, Sandkuijl L, Hewitt JE, Padberg GW, Frants RR. van der Maarel SM, et al. Among authors: deidda g. J Med Genet. 1999 Nov;36(11):823-8. J Med Genet. 1999. PMID: 10544225 Free PMC article.

4

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.

van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM. van Overveld PG, et al. Among authors: deidda g. Hum Mol Genet. 2000 Nov 22;9(19):2879-84. doi: 10.1093/hmg/9.19.2879. Hum Mol Genet. 2000. PMID: 11092764

5

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 RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM. Rijkers T, et al. Among authors: deidda g. J Med Genet. 2004 Nov;41(11):826-36. doi: 10.1136/jmg.2004.019364. J Med Genet. 2004. PMID: 15520407 Free PMC article.

6

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

Calandra P, Cascino I, Lemmers RJ, Galluzzi G, Teveroni E, Monforte M, Tasca G, Ricci E, Moretti F, van der Maarel SM, Deidda G. Calandra P, et al. Among authors: deidda g. J Med Genet. 2016 May;53(5):348-55. doi: 10.1136/jmedgenet-2015-103436. Epub 2016 Feb 1. J Med Genet. 2016. PMID: 26831754

7

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: deidda g. Hum Genet. 1994 Oct;94(4):367-74. doi: 10.1007/BF00201595. Hum Genet. 1994. PMID: 7927331

8

FRG1P is localised in the nucleolus, Cajal bodies, and speckles.

van Koningsbruggen S, Dirks RW, Mommaas AM, Onderwater JJ, Deidda G, Padberg GW, Frants RR, van der Maarel SM. van Koningsbruggen S, et al. Among authors: deidda g. J Med Genet. 2004 Apr;41(4):e46. doi: 10.1136/jmg2003.012781. J Med Genet. 2004. PMID: 15060122 Free PMC article. No abstract available.

9

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: deidda g. Am J Hum Genet. 1998 Jul;63(1):181-90. doi: 10.1086/301906. Am J Hum Genet. 1998. PMID: 9634507 Free PMC article.

10

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. Eur J Hum Genet. 1995;3(3):155-67. doi: 10.1159/000472291. Eur J Hum Genet. 1995. PMID: 7583041

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