Di Giacomo M - Search Results

1

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

Resta N, Stella A, Susca FC, Di Giacomo M, Forleo G, Miccolis I, Rossini FP, Genuardi M, Piepoli A, Grammatico P, Guanti G. Resta N, et al. Among authors: di giacomo m. Hum Mutat. 2002 Jul;20(1):78-9. doi: 10.1002/humu.9046. Hum Mutat. 2002. PMID: 12112668

2

Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications.

Resta N, Lauriola L, Puca A, Susca FC, Albanese A, Sabatino G, Di Giacomo MC, Gessi M, Guanti G. Resta N, et al. Among authors: di giacomo mc. Acta Neuropathol. 2006 Jul;112(1):106-11. doi: 10.1007/s00401-006-0084-6. Epub 2006 May 30. Acta Neuropathol. 2006. PMID: 16733653

3

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM, Lastella P, Di Giacomo MC, Resta N, Suppressa P, Pasculli G, Sabbà C, Guanti G. Lenato GM, et al. Among authors: di giacomo mc. Hum Mutat. 2006 Feb;27(2):213-4. doi: 10.1002/humu.9400. Hum Mutat. 2006. PMID: 16429404

4

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, Bagnulo R, Simone C, Guanti G. Resta N, et al. J Cell Physiol. 2006 Oct;209(1):67-73. doi: 10.1002/jcp.20708. J Cell Physiol. 2006. PMID: 16775838

5

A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome.

Lattanzi W, Di Giacomo MC, Lenato GM, Chimienti G, Voglino G, Resta N, Pepe G, Guanti G. Lattanzi W, et al. Among authors: di giacomo mc. Hum Genet. 2005 Apr;116(5):395-401. doi: 10.1007/s00439-004-1238-z. Epub 2005 Feb 22. Hum Genet. 2005. PMID: 15726419

6

Micrometastasis in colorectal cancer.

Di Giacomo M, Altomare D, Guanti G. Di Giacomo M, et al. Acta Chir Iugosl. 2002;49(2):63-6. doi: 10.2298/aci0202063d. Acta Chir Iugosl. 2002. PMID: 12587472

7

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.

8

Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age.

Di Giacomo MC, Susca FC, Resta N, Bukvic N, Vimercati A, Guanti G. Di Giacomo MC, et al. Am J Med Genet A. 2007 Mar 1;143A(5):518-20. doi: 10.1002/ajmg.a.31515. Am J Med Genet A. 2007. PMID: 17163529 No abstract available.

9

Duplication of 9 p11.2-p13.1: a benign cytogenetic variant.

Di Giacomo MC, Cesarano C, Bukvic N, Manisali E, Guanti G, Susca F. Di Giacomo MC, et al. Prenat Diagn. 2004 Aug;24(8):619-22. doi: 10.1002/pd.931. Prenat Diagn. 2004. PMID: 15305349

10

De novo balanced chromosome rearrangements in prenatal diagnosis.

Giardino D, Corti C, Ballarati L, Colombo D, Sala E, Villa N, Piombo G, Pierluigi M, Faravelli F, Guerneri S, Coviello D, Lalatta F, Cavallari U, Bellotti D, Barlati S, Croci G, Franchi F, Savin E, Nocera G, Amico FP, Granata P, Casalone R, Nutini L, Lisi E, Torricelli F, Giussani U, Facchinetti B, Guanti G, Di Giacomo M, Susca FP, Pecile V, Romitti L, Cardarelli L, Racalbuto E, Police MA, Chiodo F, Rodeschini O, Falcone P, Donti E, Grimoldi MG, Martinoli E, Stioui S, Caufin D, Lauricella SA, Tanzariello SA, Voglino G, Lenzini E, Besozzi M, Larizza L, Dalprà L. Giardino D, et al. Among authors: di giacomo m. Prenat Diagn. 2009 Mar;29(3):257-65. doi: 10.1002/pd.2215. Prenat Diagn. 2009. PMID: 19248039

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