Carella M - Search Results

1

Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.

Palumbo O, Palumbo P, Delvecchio M, Palladino T, Stallone R, Crisetti M, Zelante L, Carella M. Palumbo O, et al. Among authors: carella m. Am J Med Genet A. 2015 Feb;167A(2):438-44. doi: 10.1002/ajmg.a.36872. Epub 2014 Nov 26. Am J Med Genet A. 2015. PMID: 25428890 Review.

2

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

3

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.

4

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.

5

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

6

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

7

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

8

Juvenile hemochromatosis locus maps to chromosome 1q.

Roetto A, Totaro A, Cazzola M, Cicilano M, Bosio S, D'Ascola G, Carella M, Zelante L, Kelly AL, Cox TM, Gasparini P, Camaschella C. Roetto A, et al. Among authors: carella m. Am J Hum Genet. 1999 May;64(5):1388-93. doi: 10.1086/302379. Am J Hum Genet. 1999. PMID: 10205270 Free PMC article.

9

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.

10

Pathogenetic role of the deafness-related M34T mutation of Cx26.

Bicego M, Beltramello M, Melchionda S, Carella M, Piazza V, Zelante L, Bukauskas FF, Arslan E, Cama E, Pantano S, Bruzzone R, D'Andrea P, Mammano F. Bicego M, et al. Among authors: carella m. Hum Mol Genet. 2006 Sep 1;15(17):2569-87. doi: 10.1093/hmg/ddl184. Epub 2006 Jul 18. Hum Mol Genet. 2006. PMID: 16849369 Free PMC article.

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