Carella M - Search Results

1

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L. Bisceglia L, et al. Among authors: carella m. Mol Genet Metab. 2010 Jan;99(1):42-52. doi: 10.1016/j.ymgme.2009.09.001. Mol Genet Metab. 2010. PMID: 19782624

2

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentino MA, Piperno A, Girelli D, Roetto A, Franco B, Gasparini P, Camaschella C. Carella M, et al. Am J Hum Genet. 1997 Apr;60(4):828-32. Am J Hum Genet. 1997. PMID: 9106528 Free PMC article.

3

A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.

Piemontese MR, Memeo E, Carella M, Amati P, Chomel JC, Bonneau D, Pilia G, Cao A, Drabkin H, Gemmill R, Rommens J, Zelante L, Gasparini P, Bisceglia L. Piemontese MR, et al. Among authors: carella m. Eur J Hum Genet. 1997 May-Jun;5(3):171-4. Eur J Hum Genet. 1997. PMID: 9272742

4

Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter).

Carella M, Stewart G, Ajetunmobi JF, Perrotta S, Grootenboer S, Tchernia G, Delaunay J, Totaro A, Zelante L, Gasparini P, Iolascon A. Carella M, et al. Am J Hum Genet. 1998 Sep;63(3):810-6. doi: 10.1086/302024. Am J Hum Genet. 1998. PMID: 9718354 Free PMC article.

5

Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.

Bisceglia L, d'Ambrosio L, Piemontese MR, Carella M, Amati P, Bonneau D, Pilia G, Gasparini P, Zelante L. Bisceglia L, et al. Among authors: carella m. Mol Cell Probes. 1998 Aug;12(4):255-8. doi: 10.1006/mcpr.1998.0171. Mol Cell Probes. 1998. PMID: 9727204 No abstract available.

6

GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene.

Grifa A, Totaro A, Rommens JM, Carella M, Roetto A, Borgato L, Zelante L, Gasparini P. Grifa A, et al. Among authors: carella m. Biochem Biophys Res Commun. 1998 Sep 18;250(2):240-5. doi: 10.1006/bbrc.1998.9296. Biochem Biophys Res Commun. 1998. PMID: 9753614

7

Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.

Melchionda S, Seri M, Carella M, Piemontese MR, Zhang XX, Zelante L, Romeo G, Gasparini P. Melchionda S, et al. Among authors: carella m. Eur J Hum Genet. 1998 Jul-Aug;6(4):345-9. doi: 10.1038/sj.ejhg.5200191. Eur J Hum Genet. 1998. PMID: 9781042

8

Cloning of a new gene (FB19) within HLA class I region.

Totaro A, Grifa A, Carella M, Rommens JM, Valentino MA, Roetto A, Zelante L, Gasparini P. Totaro A, et al. Among authors: carella m. Biochem Biophys Res Commun. 1998 Sep 29;250(3):555-7. doi: 10.1006/bbrc.1998.9354. Biochem Biophys Res Commun. 1998. PMID: 9784381

9

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: carella m. Int J Mol Med. 1999 Sep;4(3):285-90. doi: 10.3892/ijmm.4.3.285. Int J Mol Med. 1999. PMID: 10425280

10

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. Melchionda S, et al. Among authors: carella m. Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468689 Free PMC article.

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