Grammatico P - Search Results

1

Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.

Pedace L, Laino L, Preziosi N, Valentini MS, Scommegna S, Rapone AM, Guarino N, Boscherini B, De Bernardo C, Marrocco G, Majore S, Grammatico P. Pedace L, et al. Among authors: grammatico p. Am J Med Genet A. 2014 Nov;164A(11):2938-46. doi: 10.1002/ajmg.a.36729. Epub 2014 Aug 26. Am J Med Genet A. 2014. PMID: 25160005

2

46,XX,der(2)t(2;10)(2pter-->2q37::10p13-->10pter)[127]/45,X,der(2)t(2;10) (2pter-->2q37::10p13-->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotypes.

Grammatico P, Majore S, Marrocco G, Poscente M, Mordenti C, Grammatico B, Del Porto G. Grammatico P, et al. Among authors: grammatico b. Genet Couns. 1999;10(4):351-8. Genet Couns. 1999. PMID: 10631922

3

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

4

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

5

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.

6

Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia.

Marrocco G, Poscente M, Majore S, De Bernardo C, Rinaldi R, Del Porto G, Storniello G, Grammatico P. Marrocco G, et al. Among authors: grammatico p. J Pediatr Surg. 2003 Aug;38(8):1258-62. doi: 10.1016/s0022-3468(03)00284-7. J Pediatr Surg. 2003. PMID: 12891509

7

HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.

Majore S, Binni F, Pennese A, De Santis A, Crisi A, Grammatico P. Majore S, et al. Among authors: grammatico p. Hum Mutat. 2004 Apr;23(4):400. doi: 10.1002/humu.9232. Hum Mutat. 2004. PMID: 15024747

8

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Cecconi M, et al. Among authors: grammatico p. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365

9

ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.

Majore S, Biolcati G, Barboni L, Cannistraci C, Binni F, Crisi A, Picardo M, Grammatico P. Majore S, et al. Among authors: grammatico p. J Invest Dermatol. 2005 Nov;125(5):933-5. doi: 10.1111/j.0022-202X.2005.23941.x. J Invest Dermatol. 2005. PMID: 16297192 Free article.

10

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

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