Guzzetta V - Search Results

1

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.

2

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.

Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI. Guzzetta V, et al. Genomics. 1992 Jul;13(3):551-9. doi: 10.1016/0888-7543(92)90124-b. Genomics. 1992. PMID: 1639385

3

Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.

Guzzetta V, Montes de Oca-Luna R, Lupski JR, Patel PI. Guzzetta V, et al. Genomics. 1991 Jan;9(1):31-6. doi: 10.1016/0888-7543(91)90217-3. Genomics. 1991. PMID: 2004767

4

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

5

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.

6

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

7

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

8

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

9

Cutis verticis gyrata--mental deficiency syndrome: a patient with drug-resistant epilepsy and polymicrogyria.

Striano S, Ruosi P, Guzzetta V, Perone L, Manto A, Cirillo S. Striano S, et al. Among authors: guzzetta v. Epilepsia. 1996 Mar;37(3):284-6. doi: 10.1111/j.1528-1157.1996.tb00027.x. Epilepsia. 1996. PMID: 8598189

10

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

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