Caroli F - Search Results

1

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. 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

2

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.

Regis S, Filocamo M, Stroppiano M, Corsolini F, Caroli F, Gatti R. Regis S, et al. Among authors: caroli f. Hum Genet. 1998 Jan;102(1):50-3. doi: 10.1007/s004390050652. Hum Genet. 1998. PMID: 9490297

3

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: caroli f. Mol Cell Probes. 1998 Jun;12(3):125-31. doi: 10.1006/mcpr.1998.0159. Mol Cell Probes. 1998. PMID: 9664573

4

A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.

Bonuccelli G, Regis S, Filocamo M, Corsolini F, Caroli F, Gatti R. Bonuccelli G, et al. Among authors: caroli f. Clin Genet. 1998 Jun;53(6):474-7. doi: 10.1111/j.1399-0004.1998.tb02598.x. Clin Genet. 1998. PMID: 9712538

5

Exclusion of the SCN2B gene as candidate for CMT4B.

Bolino A, Seri M, Caroli F, Eubanks J, Srinivasan J, Mandich P, Schenone A, Quattrone A, Romeo G, Catterall WA, Devoto M. Bolino A, et al. Among authors: caroli f. Eur J Hum Genet. 1998 Nov-Dec;6(6):629-34. doi: 10.1038/sj.ejhg.5200220. Eur J Hum Genet. 1998. PMID: 9887383

6

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.

Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, Bini R, Morra VB, De Michele G, Lerone M, Silengo M, Pela I, Borrone C, Romeo G, Devoto M. Seri M, et al. Among authors: caroli f. Am J Hum Genet. 1999 Feb;64(2):586-93. doi: 10.1086/302241. Am J Hum Genet. 1999. PMID: 9973297 Free PMC article.

7

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.

Stroppiano M, Regis S, DiRocco M, Caroli F, Gandullia P, Gatti R. Stroppiano M, et al. Among authors: caroli f. J Inherit Metab Dis. 1999 Feb;22(1):43-9. doi: 10.1023/a:1005495131118. J Inherit Metab Dis. 1999. PMID: 10070617

8

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.

Seri M, Martucciello G, Paleari L, Bolino A, Priolo M, Salemi G, Forabosco P, Caroli F, Cusano R, Tocco T, Lerone M, Cama A, Torre M, Guys JM, Romeo G, Jasonni V. Seri M, et al. Among authors: caroli f. Hum Genet. 1999 Jan;104(1):108-10. doi: 10.1007/s004390050919. Hum Genet. 1999. PMID: 10071202

9

An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.

Regis S, Filocamo M, Corsolini F, Caroli F, Keulemans JL, van Diggelen OP, Gatti R. Regis S, et al. Among authors: caroli f. Eur J Hum Genet. 1999 Feb-Mar;7(2):125-30. doi: 10.1038/sj.ejhg.5200266. Eur J Hum Genet. 1999. PMID: 10196694

10

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B. Seri M, et al. Among authors: caroli f. Int J Mol Med. 1999 Sep;4(3):285-90. doi: 10.3892/ijmm.4.3.285. Int J Mol Med. 1999. PMID: 10425280

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