Seri M - Search Results

1

Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology.

Santacroce R, Ratti A, Caroli F, Foglieni B, Ferraris A, Cremonesi L, Margaglione M, Seri M, Ravazzolo R, Restagno G, Dallapiccola B, Rappaport E, Pollak ES, Surrey S, Ferrari M, Fortina P. Santacroce R, et al. Among authors: seri m. Clin Chem. 2002 Dec;48(12):2124-30. Clin Chem. 2002. PMID: 12446467

2

Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction.

De Giorgio R, Seri M, Cogliandro R, Cusano R, Fava M, Caroli F, Panetta D, Forabosco P, Barbara G, Ravazzolo R, Ceccherini I, Corinaldesi R, Stanghellini V. De Giorgio R, et al. Among authors: seri m. Clin Genet. 2001 Feb;59(2):131-3. doi: 10.1034/j.1399-0004.2001.590212.x. Clin Genet. 2001. PMID: 11260216 No abstract available.

3

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.

Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M. Caroli F, et al. Among authors: seri m. Clin Genet. 2007 Nov;72(5):427-33. doi: 10.1111/j.1399-0004.2007.00869.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894839

4

A method for point mutation analysis that links SSCP and dye primer fluorescent sequencing.

Chiarelli I, Porfirio B, Mattiuz PL, Seri M, Caroli F, Celli I, Romeo G, Volorio S, Zollo M. Chiarelli I, et al. Among authors: seri m. Mol Cell Probes. 1998 Jun;12(3):125-31. doi: 10.1006/mcpr.1998.0159. Mol Cell Probes. 1998. PMID: 9664573

5

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders.

Fava M, Borghini S, Cinti R, Cusano R, Seri M, Lerone M, De Giorgio R, Stanghellini V, Martucciello G, Ravazzolo R, Ceccherini I. Fava M, et al. Among authors: seri m. Int J Mol Med. 2002 Jul;10(1):101-6. Int J Mol Med. 2002. PMID: 12060859

6

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G. Marini M, et al. Among authors: seri m. Am J Med Genet A. 2003 Mar 1;117A(2):112-5. doi: 10.1002/ajmg.a.10163. Am J Med Genet A. 2003. PMID: 12567406

7

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Marini M, Bongers EM, Cusano R, Di Duca M, Seri M, Knoers NV, Ravazzolo R. Marini M, et al. Among authors: seri m. Int J Mol Med. 2003 Jul;12(1):79-82. Int J Mol Med. 2003. PMID: 12792813

8

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I. D'Osualdo A, et al. Among authors: seri m. Eur J Hum Genet. 2005 Mar;13(3):314-20. doi: 10.1038/sj.ejhg.5201323. Eur J Hum Genet. 2005. PMID: 15536479

9

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.

Marini M, Giacopelli F, Seri M, Ravazzolo R. Marini M, et al. Among authors: seri m. Eur J Hum Genet. 2005 Jun;13(6):789-92. doi: 10.1038/sj.ejhg.5201405. Eur J Hum Genet. 2005. PMID: 15785774

10

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R. Marini M, et al. Among authors: seri m. Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa. Genet Med. 2010. PMID: 20531206 Free article.

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