D'Apice MR - Search Results

1

Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.

Marchionni E, D'Apice MR, Lupo V, Lattanzi G, Mattioli E, Lisignoli G, Gabusi E, Pepe G, Helmer Citterich M, Campione E, Nardone AM, Spitalieri P, Pucci N, Cocciadiferro D, Picchi E, Garaci F, Novelli A, Novelli G. Marchionni E, et al. Among authors: d apice mr. Bone Rep. 2023 Nov 27;19:101728. doi: 10.1016/j.bonr.2023.101728. eCollection 2023 Dec. Bone Rep. 2023. PMID: 38076483 Free PMC article.

2

Orthopedia, a novel homeobox-containing gene expressed in the developing CNS of both mouse and Drosophila.

Simeone A, D'Apice MR, Nigro V, Casanova J, Graziani F, Acampora D, Avantaggiato V. Simeone A, et al. Neuron. 1994 Jul;13(1):83-101. doi: 10.1016/0896-6273(94)90461-8. Neuron. 1994. PMID: 7913821

3

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.

4

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

5

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.

6

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

D'Apice MR, Gambardella S, Bengala M, Russo S, Nardone AM, Lucidi V, Sangiuolo F, Novelli G. D'Apice MR, et al. BMC Med Genet. 2004 Apr 14;5:8. doi: 10.1186/1471-2350-5-8. BMC Med Genet. 2004. PMID: 15084222 Free PMC article.

7

Analysis of TNF-alpha promoter polymorphisms in the susceptibility to beryllium hypersensitivity.

Dotti C, D'Apice MR, Rogliani P, Novelli G, Saltini C, Amicosante M. Dotti C, et al. Sarcoidosis Vasc Diffuse Lung Dis. 2004 Mar;21(1):29-34. doi: 10.1007/s11083-004-9308-3. Sarcoidosis Vasc Diffuse Lung Dis. 2004. PMID: 15127972

8

Toward the pharmacogenomics of cystic fibrosis--an update.

Sangiuolo F, D'Apice MR, Gambardella S, Di Daniele N, Novelli G. Sangiuolo F, et al. Pharmacogenomics. 2004 Oct;5(7):861-78. doi: 10.1517/14622416.5.7.861. Pharmacogenomics. 2004. PMID: 15469408 Review.

9

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

10

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.

Filesi I, Gullotta F, Lattanzi G, D'Apice MR, Capanni C, Nardone AM, Columbaro M, Scarano G, Mattioli E, Sabatelli P, Maraldi NM, Biocca S, Novelli G. Filesi I, et al. Physiol Genomics. 2005 Oct 17;23(2):150-8. doi: 10.1152/physiolgenomics.00060.2005. Epub 2005 Jul 26. Physiol Genomics. 2005. PMID: 16046620 Free article.

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