Grammatico P - Search Results

1

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

Laino L, Majore S, Preziosi N, Grammatico B, De Bernardo C, Scommegna S, Rapone AM, Marrocco G, Bottillo I, Grammatico P. Laino L, et al. Among authors: grammatico p, grammatico b. Endocr Connect. 2014 Dec;3(4):180-92. doi: 10.1530/EC-14-0085. Epub 2014 Sep 23. Endocr Connect. 2014. PMID: 25248670 Free PMC article.

2

Granulomatous slack skin: cytogenetic and molecular analyses.

Grammatico P, Balus L, Scarpa S, Varesco L, Di Rosa C, Grammatico B, Del Porto G. Grammatico P, et al. Among authors: grammatico b. Cancer Genet Cytogenet. 1994 Feb;72(2):96-100. doi: 10.1016/0165-4608(94)90122-8. Cancer Genet Cytogenet. 1994. PMID: 8143283

3

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

4

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

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

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.

7

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

8

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

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

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

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