Grammatico P - Search Results

1

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

Giuliani R, Antonucci I, Torrente I, Grammatico P, Palka G, Stuppia L. Giuliani R, et al. Among authors: grammatico p. Asian J Androl. 2010 Nov;12(6):819-26. doi: 10.1038/aja.2010.58. Epub 2010 Jul 26. Asian J Androl. 2010. PMID: 20657600 Free PMC article.

2

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.

Stuppia L, Antonucci I, Binni F, Brandi A, Grifone N, Colosimo A, De Santo M, Gatta V, Gelli G, Guida V, Majore S, Calabrese G, Palka C, Ravani A, Rinaldi R, Tiboni GM, Ballone E, Venturoli A, Ferlini A, Torrente I, Grammatico P, Calzolari E, Dallapiccola B. Stuppia L, et al. Among authors: grammatico p. Eur J Hum Genet. 2005 Aug;13(8):959-64. doi: 10.1038/sj.ejhg.5201437. Eur J Hum Genet. 2005. PMID: 15870824

3

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.

Scarciolla O, Stuppia L, De Angelis MV, Murru S, Palka C, Giuliani R, Pace M, Di Muzio A, Torrente I, Morella A, Grammatico P, Giacanelli M, Rosatelli MC, Uncini A, Dallapiccola B. Scarciolla O, et al. Among authors: grammatico p. Neurogenetics. 2006 Nov;7(4):269-76. doi: 10.1007/s10048-006-0051-3. Epub 2006 Jul 22. Neurogenetics. 2006. PMID: 16865356

4

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

5

Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.

Bernardini L, Capalbo A, D'Avanzo MG, Torrente I, Grammatico P, Dell'Edera D, Cavalcanti DP, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: grammatico p. Eur J Med Genet. 2007 Mar-Apr;50(2):94-102. doi: 10.1016/j.ejmg.2006.11.001. Epub 2006 Nov 23. Eur J Med Genet. 2007. PMID: 17236832

6

Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.

Baldinotti F, Majore S, Fogli A, Marrocco G, Ghirri P, Vuerich M, Tumini S, Boscherini B, Vetri M, Scommegna S, Rinaldi R, Simi P, Grammatico P. Baldinotti F, et al. Among authors: grammatico p. J Androl. 2008 Jan-Feb;29(1):20-8. doi: 10.2164/jandrol.107.002592. Epub 2007 Jul 3. J Androl. 2008. PMID: 17609295 Free article.

7

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers.

Pascolini G, Fleischer N, Ferraris A, Majore S, Grammatico P. Pascolini G, et al. Among authors: grammatico p. J Hum Genet. 2019 Aug;64(8):721-728. doi: 10.1038/s10038-019-0598-0. Epub 2019 May 13. J Hum Genet. 2019. PMID: 31086247

8

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.

9

Novel and recurrent p14 mutations in Italian familial melanoma.

Binni F, Antigoni I, De Simone P, Majore S, Silipo V, Crisi A, Amantea A, Pacchiarini D, Castori M, De Bernardo C, Catricalà C, Grammatico P. Binni F, et al. Among authors: grammatico p. Clin Genet. 2010 Jun;77(6):581-6. doi: 10.1111/j.1399-0004.2009.01298.x. Epub 2010 Feb 4. Clin Genet. 2010. PMID: 20132244

10

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

Pedace L, Castori M, Binni F, Pingi A, Grammatico B, Scommegna S, Majore S, Grammatico P. Pedace L, et al. Among authors: grammatico p, grammatico b. Eur J Med Genet. 2009 Jul-Aug;52(4):273-6. doi: 10.1016/j.ejmg.2009.02.007. Epub 2009 Feb 28. Eur J Med Genet. 2009. PMID: 19254784

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