Coviello DA - Search Results

1

Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].

Origone P, Bellini C, Sambarino D, Banelli B, Morcaldi G, La Rosa C, Stanzial F, Castellan C, Coviello DA, Garrè C, Bonioli E. Origone P, et al. Among authors: coviello da. Hum Mutat. 2003 Aug;22(2):179-80. doi: 10.1002/humu.9166. Hum Mutat. 2003. PMID: 12872266

2

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

Grifa A, Piemontese MR, Melchionda S, Origone P, Zelante L, Coviello D, Fratta G, Dallapiccola B, Balestrazzi P, Ajmar F, et al. Grifa A, et al. Clin Genet. 1995 Jun;47(6):281-4. doi: 10.1111/j.1399-0004.1995.tb03965.x. Clin Genet. 1995. PMID: 7554359

3

Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases.

Gasparini P, Grifa A, Origone P, Coviello D, Antonacci R, Rocchi M. Gasparini P, et al. Mol Cell Probes. 1993 Oct;7(5):415-8. doi: 10.1006/mcpr.1993.1061. Mol Cell Probes. 1993. PMID: 8264676

4

The Genoa experience of prenatal diagnosis in NF1.

Origone P, Bonioli E, Panucci E, Costabel S, Ajmar F, Coviello DA. Origone P, et al. Among authors: coviello da. Prenat Diagn. 2000 Sep;20(9):719-24. doi: 10.1002/1097-0223(200009)20:9<719::aid-pd895>3.0.co;2-x. Prenat Diagn. 2000. PMID: 11015700

5

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

Origone P, De Luca A, Bellini C, Buccino A, Mingarelli R, Costabel S, La Rosa C, Garrè C, Coviello DA, Ajmar F, Dallapiccola B, Bonioli E. Origone P, et al. Among authors: coviello da. Hum Mutat. 2002 Jul;20(1):74-5. doi: 10.1002/humu.9039. Hum Mutat. 2002. PMID: 12112660

6

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

Syrén ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Alì A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A. Syrén ML, et al. Among authors: coviello da. Hum Mutat. 2002 Jul;20(1):78. doi: 10.1002/humu.9045. Hum Mutat. 2002. PMID: 12112667

7

Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.

Bonioli E, Tarò M, Rosa CL, Citana A, Bertorelli R, Morcaldi G, Gastaldi R, Coviello DA. Bonioli E, et al. Among authors: coviello da. Growth Horm IGF Res. 2005 Dec;15(6):405-10. doi: 10.1016/j.ghir.2005.08.004. Epub 2005 Oct 5. Growth Horm IGF Res. 2005. PMID: 16213173

8

Prognostic value of chromosomal imbalances, gene mutations, and BAP1 expression in uveal melanoma.

Patrone S, Maric I, Rutigliani M, Lanza F, Puntoni M, Banelli B, Rancati S, Angelini G, Amaro A, Ligorio P, Defferrari C, Castagnetta M, Bandelloni R, Mosci C, DeCensi A, Romani M, Pfeffer U, Viaggi S, Coviello DA. Patrone S, et al. Among authors: coviello da. Genes Chromosomes Cancer. 2018 Aug;57(8):387-400. doi: 10.1002/gcc.22541. Genes Chromosomes Cancer. 2018. PMID: 29689622

9

In uveal melanoma Gα-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Gα-protein GNAQ mutations.

Piaggio F, Croce M, Reggiani F, Monti P, Bernardi C, Ambrosio M, Banelli B, Dogrusöz M, Jockers R, Bordo D, Puzone R, Viaggi S, Coviello D, Lanza FB, Bartolucci M, Petretto A, Mosci C, Gangemi R, van der Velden PA, Jager MJ, Pfeffer U, Amaro A. Piaggio F, et al. Eur J Cancer. 2022 Jul;170:27-41. doi: 10.1016/j.ejca.2022.04.013. Epub 2022 May 14. Eur J Cancer. 2022. PMID: 35580369

10

Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia.

Lelli N, Ghisellini M, Gualdi R, Tiozzo R, Calandra S, Gaddi A, Ciarrocchi A, Arca M, Fazio S, Coviello DA, et al. Lelli N, et al. Among authors: coviello da. Arterioscler Thromb. 1991 Mar-Apr;11(2):234-43. doi: 10.1161/01.atv.11.2.234. Arterioscler Thromb. 1991. PMID: 1998642

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