De Luca A - Search Results

1

Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma.

Torrente I, Arturi F, D'Aloiso L, Colosimo A, De Luca A, Ferretti E, Russo D, Chiefari E, Scarpelli D, Bisceglia M, Dallapiccola B, Filetti S. Torrente I, et al. Among authors: de luca a. J Endocrinol Invest. 2004 Feb;27(2):111-6. doi: 10.1007/BF03346254. J Endocrinol Invest. 2004. PMID: 15129804

2

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers.

Torrente I, Mangino M, De Luca A, Mingarelli R, Gennarelli M, Giannotti A, Novelli G, Dallapiccola B. Torrente I, et al. Among authors: de luca a. Prenat Diagn. 1998 May;18(5):504-6. Prenat Diagn. 1998. PMID: 9621386

3

A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.

De Luca A, Torrente I, Mangino M, Bertini E, Dallapiccola B, Novelli G. De Luca A, et al. Hum Hered. 1999 Jan;49(1):59-60. doi: 10.1159/000022843. Hum Hered. 1999. PMID: 9858861

4

A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.

Mangino M, Torrente I, De Luca A, Sanchez O, Dallapiccola B, Novelli G. Mangino M, et al. Among authors: de luca a. J Hum Genet. 1999;44(1):76-7. doi: 10.1007/s100380050113. J Hum Genet. 1999. PMID: 9929985

5

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.

Mangino M, Sanchez O, Torrente I, De Luca A, Capon F, Novelli G, Dallapiccola B. Mangino M, et al. Among authors: de luca a. Am J Hum Genet. 1999 Aug;65(2):441-7. doi: 10.1086/302505. Am J Hum Genet. 1999. PMID: 10417287 Free PMC article.

6

Special factors in biological strings.

Colosimo A, De Luca A. Colosimo A, et al. Among authors: de luca a. J Theor Biol. 2000 May 7;204(1):29-46. doi: 10.1006/jtbi.2000.1077. J Theor Biol. 2000. PMID: 10772847

7

Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates.

De Luca A, Rizzardi M, Torrente I, Alessandroni R, Salvioli GP, Filograsso N, Dallapiccola B, Novelli G. De Luca A, et al. Neurogenetics. 2001 Mar;3(2):79-82. doi: 10.1007/s100480100106. Neurogenetics. 2001. PMID: 11354829

8

Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.

Margiotti K, Sangiuolo F, De Luca A, Froio F, Pearce CL, Ricci-Barbini V, Micali F, Bonafe M, Franceschi C, Dallapiccola B, Novelli G, Reichardt JK. Margiotti K, et al. Among authors: de luca a. Dis Markers. 2000;16(3-4):147-50. doi: 10.1155/2000/683607. Dis Markers. 2000. PMID: 11381197 Free PMC article.

9

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.

De Luca A, Torrente I, Mangino M, Danesi R, Dallapiccola B, Novelli G. De Luca A, et al. Mutat Res. 2001 Jan;432(3-4):79-82. doi: 10.1016/s1383-5726(00)00007-8. Mutat Res. 2001. PMID: 11465545

10

Association study of a promoter polymorphism of UFD1L gene with schizophrenia.

De Luca A, Pasini A, Amati F, Botta A, Spalletta G, Alimenti S, Caccamo F, Conti E, Trakalo J, Macciardi F, Dallapiccola B, Novelli G. De Luca A, et al. Am J Med Genet. 2001 Aug 8;105(6):529-33. doi: 10.1002/ajmg.1489. Am J Med Genet. 2001. PMID: 11496370

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