D'Apice MR - Search Results

1

Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.

D'Apice MR, Gambardella S, Russo S, Lucidi V, Nardone AM, Pietropolli A, Novelli G. D'Apice MR, et al. Prenat Diagn. 2004 Dec 15;24(12):981-3. doi: 10.1002/pd.1058. Prenat Diagn. 2004. PMID: 15614862

2

Towards the pharmacogenomics of cystic fibrosis.

Sangiuolo F, D'Apice MR, Bruscia E, Lucidi V, Novelli G. Sangiuolo F, et al. Pharmacogenomics. 2002 Jan;3(1):75-87. doi: 10.1517/14622416.3.1.75. Pharmacogenomics. 2002. PMID: 11966405 Review.

3

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

Flex E, De Luca A, D'Apice MR, Buccino A, Dallapiccola B, Novelli G. Flex E, et al. Neuromuscul Disord. 2002 Jun;12(5):501-5. doi: 10.1016/s0960-8966(01)00328-5. Neuromuscul Disord. 2002. PMID: 12031625

4

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. Novelli G, et al. Am J Hum Genet. 2002 Aug;71(2):426-31. doi: 10.1086/341908. Epub 2002 Jun 19. Am J Hum Genet. 2002. PMID: 12075506 Free PMC article.

5

Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre.

Giardina E, Capon F, D'Apice MR, Amati F, Arturi F, Filetti S, Bonifazi E, Pucci S, Conte C, Novelli G. Giardina E, et al. BMC Med Genet. 2002 Jul 23;3:5. doi: 10.1186/1471-2350-3-5. Epub 2002 Jul 23. BMC Med Genet. 2002. PMID: 12135533 Free PMC article.

6

Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population.

Borgiani P, Vallo L, D'Apice MR, Giardina E, Pucci S, Capon F, Nisticò S, Chimenti S, Pallone F, Novelli G. Borgiani P, et al. Eur J Dermatol. 2002 Nov-Dec;12(6):540-2. Eur J Dermatol. 2002. PMID: 12459523

7

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. Biancalana V, et al. Hum Genet. 2003 Feb;112(2):135-42. doi: 10.1007/s00439-002-0869-1. Epub 2002 Nov 28. Hum Genet. 2003. PMID: 12522554

8

The strange case of the "lumper" lamin A/C gene and human premature ageing.

Novelli G, D'Apice MR. Novelli G, et al. Trends Mol Med. 2003 Sep;9(9):370-5. doi: 10.1016/s1471-4914(03)00162-x. Trends Mol Med. 2003. PMID: 13129702 Review.

9

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.

10

Paternal origin of LMNA mutations in Hutchinson-Gilford progeria.

D'Apice MR, Tenconi R, Mammi I, van den Ende J, Novelli G. D'Apice MR, et al. Clin Genet. 2004 Jan;65(1):52-4. doi: 10.1111/j..2004.00181.x. Clin Genet. 2004. PMID: 15032975 No abstract available.

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