Grammatico P - Search Results

1

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.

Majore S, Milano F, Binni F, Stuppia L, Cerrone A, Tafuri A, De Bernardo C, Palka G, Grammatico P. Majore S, et al. Among authors: grammatico p. Haematologica. 2006 Aug;91(8 Suppl):ECR33. Haematologica. 2006. PMID: 16923517

2

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

3

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

4

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

5

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

6

Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload.

Majore S, Binni F, Ricerca BM, Brioli G, Grammatico P. Majore S, et al. Among authors: grammatico p. Haematologica. 2002 Feb;87(2):221-2. Haematologica. 2002. PMID: 11836175

7

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.

8

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

9

CDKN2A: the IVS2-105A/G intronic mutation found in an Italian patient affected by eight primary melanomas.

Majore S, Catricalà C, Binni F, De Simone P, Eibenschutz L, Grammatico P. Majore S, et al. Among authors: grammatico p. J Invest Dermatol. 2004 Feb;122(2):450-1. doi: 10.1046/j.0022-202X.2004.22222.x. J Invest Dermatol. 2004. PMID: 15009729 Free article. No abstract available.

10

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

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