Piane M - Search Results

1

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.

Petraroli M, Percesepe A, Piane M, Ormitti F, Castellone E, Gnocchi M, Messina G, Bernardi L, Patianna VD, Esposito SMR, Street ME. Petraroli M, et al. Among authors: piane m. Front Endocrinol (Lausanne). 2023 May 10;14:1018441. doi: 10.3389/fendo.2023.1018441. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37234811 Free PMC article.

2

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

3

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.

4

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.

5

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A. Gilad S, et al. Among authors: piane m. Am J Hum Genet. 1998 Mar;62(3):551-61. doi: 10.1086/301755. Am J Hum Genet. 1998. PMID: 9497252 Free PMC article.

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

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G. Piane M, et al. Am J Med Genet A. 2009 Nov;149A(11):2452-6. doi: 10.1002/ajmg.a.33035. Am J Med Genet A. 2009. PMID: 19839044

8

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.

Marzano F, Chiara M, Consiglio A, D'Amato G, Gentile M, Mirabelli V, Piane M, Savio C, Fabiani M, D'Elia D, Sbisà E, Scarano G, Lonardo F, Tullo A, Pesole G, Faienza MF. Marzano F, et al. Among authors: piane m. Int J Mol Sci. 2023 Jul 31;24(15):12291. doi: 10.3390/ijms241512291. Int J Mol Sci. 2023. PMID: 37569667 Free PMC article.

9

Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease.

Romano C, Morena E, Petrucci S, Diamant S, Marconi M, Travaglini L, Zanni G, Piane M, Salvetti M, Romano S, Ristori G. Romano C, et al. Among authors: piane m. Front Neurol. 2024 Mar 20;15:1362013. doi: 10.3389/fneur.2024.1362013. eCollection 2024. Front Neurol. 2024. PMID: 38572490 Free PMC article.

10

Cutaneous venous malformations related to KRIT1 mutation: case report and literature review.

Grippaudo FR, Piane M, Amoroso M, Longo B, Penco S, Chessa L, Giubettini M, Santanelli F. Grippaudo FR, et al. Among authors: piane m. J Mol Neurosci. 2013 Oct;51(2):442-5. doi: 10.1007/s12031-013-0053-1. Epub 2013 Jul 5. J Mol Neurosci. 2013. PMID: 23828392

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