Grammatico P - Search Results

1

De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation.

Cappellacci S, Martinelli S, Rinaldi R, Martinelli E, Parisi P, Mancini B, Pescosolido R, Grammatico P. Cappellacci S, et al. Among authors: grammatico p. Am J Med Genet A. 2006 Jun 1;140(11):1203-7. doi: 10.1002/ajmg.a.31219. Am J Med Genet A. 2006. PMID: 16652357

2

20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome.

Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del Porto G. Grammatico P, et al. Clin Genet. 1992 Jun;41(6):285-9. doi: 10.1111/j.1399-0004.1992.tb03398.x. Clin Genet. 1992. PMID: 1623622

3

A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome.

Grammatico P, Bottoni U, De Sanctis S, Sulli N, Tonanzi T, Onorio AC, Del Porto G. Grammatico P, et al. Clin Genet. 1990 Jul;38(1):74-8. doi: 10.1111/j.1399-0004.1990.tb03550.x. Clin Genet. 1990. PMID: 2387088

4

Inv dup(15): contribution to the clinical definition of phenotype.

Grammatico P, Di Rosa C, Roccella M, Falcolini M, Pelliccia A, Roccella F, Del Porto G. Grammatico P, et al. Clin Genet. 1994 Sep;46(3):233-7. doi: 10.1111/j.1399-0004.1994.tb04232.x. Clin Genet. 1994. PMID: 7820937 Review.

5

2q35qter duplication syndrome: phenotypic definition.

Grammatico P, Di Rosa C, Rinaldi R, Roccella M, Cupilari F, Sbezzi T, Del Porto G. Grammatico P, et al. Genet Couns. 1997;8(4):327-34. Genet Couns. 1997. PMID: 9457503

6

HLA-DR and -DQ alleles in Italian patients with melanoma.

Lulli P, Grammatico P, Brioli G, Catricalà C, Morellini M, Roccella M, Mariani B, Pennesi G, Roccella F, Cappellacci S, Trabace S. Lulli P, et al. Among authors: grammatico p. Tissue Antigens. 1998 Mar;51(3):276-80. doi: 10.1111/j.1399-0039.1998.tb03102.x. Tissue Antigens. 1998. PMID: 9550328

7

Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissection.

Grammatico P, Roccella M, De Bernardo C, Roccella F, Grammatico B, Rinaldi R, Del Porto G. Grammatico P, et al. Among authors: grammatico b. Genet Couns. 1998;9(4):259-64. Genet Couns. 1998. PMID: 9894162

8

Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.

Blasi MA, Rinaldi R, Renieri A, Petrucci R, De Bernardo C, Bruttini M, Grammatico P. Blasi MA, et al. Among authors: grammatico p. Am J Ophthalmol. 2000 Jul;130(1):130-1. doi: 10.1016/s0002-9394(00)00466-9. Am J Ophthalmol. 2000. PMID: 11004279

9

CDKN2A novel mutation in a patient from a melanoma-prone family.

Grammatico P, Binni F, Eibenschutz L, De Bernardo C, Grammatico B, Rinaldi R, De Simone P, Catricalà C. Grammatico P, et al. Among authors: grammatico b. Melanoma Res. 2001 Oct;11(5):447-9. doi: 10.1097/00008390-200110000-00002. Melanoma Res. 2001. PMID: 11595880

10

Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype.

Rinaldi R, De Bernardo C, Assumma M, Grammatico B, Buffone E, Poscente M, Grammatico P. Rinaldi R, et al. Among authors: grammatico p, grammatico b. Am J Med Genet A. 2003 Apr 15;118A(2):122-6. doi: 10.1002/ajmg.a.10093. Am J Med Genet A. 2003. PMID: 12655492 Review.

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