Piane M - Search Results

1

Prenatal CFAP53-related laterality defect: case report and review of the literature.

Mastromoro G, Guadagnolo D, Novelli A, Torres B, Piane M, Magliozzi M, Bernardini L, Ventriglia F, Pizzuti A, Petrucci S. Mastromoro G, et al. Among authors: piane m. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2201653. doi: 10.1080/14767058.2023.2201653. J Matern Fetal Neonatal Med. 2023. PMID: 37041101 Free article. Review.

2

The novel human gene aprataxin is directly involved in DNA single-strand-break repair.

Mosesso P, Piane M, Palitti F, Pepe G, Penna S, Chessa L. Mosesso P, et al. Among authors: piane m. Cell Mol Life Sci. 2005 Feb;62(4):485-91. doi: 10.1007/s00018-004-4441-0. Cell Mol Life Sci. 2005. PMID: 15719174 Free article.

3

Genetics of migraine and pharmacogenomics: some considerations.

Piane M, Lulli P, Farinelli I, Simeoni S, De Filippis S, Patacchioli FR, Martelletti P. Piane M, et al. J Headache Pain. 2007 Dec;8(6):334-9. doi: 10.1007/s10194-007-0427-2. Epub 2007 Dec 5. J Headache Pain. 2007. PMID: 18058067 Free PMC article. Review.

4

Different clinical and immunological presentation of ataxia-telangiectasia within the same family.

Soresina A, Meini A, Lougaris V, Cattaneo G, Pellegrino S, Piane M, Darra F, Plebani A. Soresina A, et al. Among authors: piane m. Neuropediatrics. 2008 Feb;39(1):43-5. doi: 10.1055/s-2008-1076736. Neuropediatrics. 2008. PMID: 18504682

5

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

Silvestri G, Masciullo M, Piane M, Savio C, Modoni A, Santoro M, Chessa L. Silvestri G, et al. Among authors: piane m. J Neurol. 2010 Oct;257(10):1738-40. doi: 10.1007/s00415-010-5583-7. Epub 2010 May 18. J Neurol. 2010. PMID: 20480175 No abstract available.

6

Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A).

Capurso G, Sbrozzi-Vanni A, Piane M, Begini P, Panzuto F, Libi F, Margagnoni G, Capotondi C, Marignani M, Chessa L, Delle Fave G. Capurso G, et al. Among authors: piane m. Pancreas. 2009 Jul;38(5):599-601. doi: 10.1097/MPA.0b013e3181967657. Pancreas. 2009. PMID: 19550280 No abstract available.

7

Role of senataxin in DNA damage and telomeric stability.

De Amicis A, Piane M, Ferrari F, Fanciulli M, Delia D, Chessa L. De Amicis A, et al. Among authors: piane m. DNA Repair (Amst). 2011 Feb 7;10(2):199-209. doi: 10.1016/j.dnarep.2010.10.012. Epub 2010 Nov 26. DNA Repair (Amst). 2011. PMID: 21112256

8

hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.

Pitts SA, Kullar HS, Stankovic T, Stewart GS, Last JI, Bedenham T, Armstrong SJ, Piane M, Chessa L, Taylor AM, Byrd PJ. Pitts SA, et al. Among authors: piane m. Hum Mol Genet. 2001 May 15;10(11):1155-62. doi: 10.1093/hmg/10.11.1155. Hum Mol Genet. 2001. PMID: 11371508

9

Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility.

Elia J, Mazzilli R, Delfino M, Piane M, Bozzao C, Spinosa V, Chessa L, Mazzilli F. Elia J, et al. Among authors: piane m. Arch Ital Urol Androl. 2014 Sep 30;86(3):171-4. doi: 10.4081/aiua.2014.3.171. Arch Ital Urol Androl. 2014. PMID: 25308578 Free article.

10

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

Rubattu S, Bozzao C, Pennacchini E, Pagannone E, Musumeci BM, Piane M, Germani A, Savio C, Francia P, Volpe M, Autore C, Chessa L. Rubattu S, et al. Among authors: piane m. Int J Mol Sci. 2016 Jul 30;17(8):1239. doi: 10.3390/ijms17081239. Int J Mol Sci. 2016. PMID: 27483260 Free PMC article.

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