Guzzetta V - Search Results

1

Charcot-Marie-Tooth disease: molecular characterization of patients from central and southern Italy.

Guzzetta V, Santoro L, Gasparo-Rippa P, Ragno M, Vita G, Caruso G, Andria G. Guzzetta V, et al. Clin Genet. 1995 Jan;47(1):27-32. doi: 10.1111/j.1399-0004.1995.tb03917.x. Clin Genet. 1995. PMID: 7774040

2

Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.

Sebastio G, Perone L, Guzzetta V, Sebastio L, Vicari L, Della Casa R, Gurrieri F, Zappata S, Pomponi MG, Mazzei A, Neri G, Andria G, Brahe C. Sebastio G, et al. Among authors: guzzetta v. Am J Med Genet. 1996 May 17;63(2):366-72. doi: 10.1002/(SICI)1096-8628(19960517)63:2<366::AID-AJMG8>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8725787

3

Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Guzzetta V, Bonapace G, Dianzani I, Parenti G, Lecora M, Giannattasio S, Concolino D, Strisciuglio P, Sebastio G, Andria G. Guzzetta V, et al. J Inherit Metab Dis. 1997 Sep;20(5):619-24. doi: 10.1023/a:1005315106604. J Inherit Metab Dis. 1997. PMID: 9323556

4

Unbalanced translocation (3;5)(q26.1;p14): a clinical report.

Rossi M, Di Micco P, Perone L, De Brasi D, Guzzetta V, Andreucci MV, Vega GR, Marzano MG, Iaccarino E, Andria G. Rossi M, et al. Among authors: guzzetta v. Am J Med Genet. 2002 Jul 15;110(4):353-8. doi: 10.1002/ajmg.10440. Am J Med Genet. 2002. PMID: 12116209 Review.

5

Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group.

Guzzetta V, De Fabiani E, Galli G, Colombo C, Corso G, Lecora M, Parenti G, Strisciuglio P, Andria G. Guzzetta V, et al. Acta Paediatr. 1996 Aug;85(8):937-42. doi: 10.1111/j.1651-2227.1996.tb14190.x. Acta Paediatr. 1996. PMID: 8863875

6

Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum.

Guzzetta V, Lecora M, Rossi G, Berni Canani M, Andria G. Guzzetta V, et al. Clin Dysmorphol. 1996 Apr;5(2):179-82. doi: 10.1097/00019605-199604000-00012. Clin Dysmorphol. 1996. PMID: 8723570

7

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI. Lupski JR, et al. Among authors: guzzetta v. Cell. 1991 Jul 26;66(2):219-32. doi: 10.1016/0092-8674(91)90613-4. Cell. 1991. PMID: 1677316

8

Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs.

Pignata C, Fiore M, Guzzetta V, Castaldo A, Sebastio G, Porta F, Guarino A. Pignata C, et al. Among authors: guzzetta v. Am J Med Genet. 1996 Oct 16;65(2):167-70. doi: 10.1002/(SICI)1096-8628(19961016)65:2<167::AID-AJMG17>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8911612

9

Control of lactase in human adult-type hypolactasia and in weaning rabbits and rats.

Sebastio G, Villa M, Sartorio R, Guzzetta V, Poggi V, Auricchio S, Boll W, Mantei N, Semenza G. Sebastio G, et al. Among authors: guzzetta v. Am J Hum Genet. 1989 Oct;45(4):489-97. Am J Hum Genet. 1989. PMID: 2485006 Free PMC article.

10

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Greenberg F, et al. Among authors: guzzetta v. Am J Hum Genet. 1991 Dec;49(6):1207-18. Am J Hum Genet. 1991. PMID: 1746552 Free PMC article.

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