Gianfrancesco F - Search Results

1

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Innocenzi G, Vitale E, Liquori CL, Marchuk DA, Squitieri F. Gianfrancesco F, et al. Am J Med Genet B Neuropsychiatr Genet. 2007 Jul 5;144B(5):691-5. doi: 10.1002/ajmg.b.30381. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17440989

2

A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation.

D'Esposito M, Ciccodicola A, Gianfrancesco F, Esposito T, Flagiello L, Mazzarella R, Schlessinger D, D'Urso M. D'Esposito M, et al. Among authors: gianfrancesco f. Nat Genet. 1996 Jun;13(2):227-9. doi: 10.1038/ng0696-227. Nat Genet. 1996. PMID: 8640232

3

Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome.

Gianfrancesco F, Esposito T, Ruini L, Houlgatte R, Nagaraja R, D'Esposito M, Rocchi M, Auffray C, Schlessinger D, D'Urso M, Forabosco A. Gianfrancesco F, et al. Gene. 1997 Mar 18;187(2):179-84. doi: 10.1016/s0378-1119(96)00743-3. Gene. 1997. PMID: 9099878

4

A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere.

Gianfrancesco F, Esposito T, Montanini L, Ciccodicola A, Mumm S, Mazzarella R, Rao E, Giglio S, Rappold G, Forabosco A. Gianfrancesco F, et al. Hum Mol Genet. 1998 Mar;7(3):407-14. doi: 10.1093/hmg/7.3.407. Hum Mol Genet. 1998. PMID: 9466997

5

Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene.

Gianfrancesco F, Esposito T, Ciccodicola A, D'Esposito M, Mazzarella R, D'Urso M, Forabosco A. Gianfrancesco F, et al. Cytogenet Cell Genet. 1999;84(3-4):164-6. doi: 10.1159/000015247. Cytogenet Cell Genet. 1999. PMID: 10393420 No abstract available.

6

Characterization of the murine orthologue of a novel human subtelomeric multigene family.

Gianfrancesco F, Falco G, Esposito T, Rocchi M, D'Urso M. Gianfrancesco F, et al. Cytogenet Cell Genet. 2001;94(1-2):98-100. doi: 10.1159/000048796. Cytogenet Cell Genet. 2001. PMID: 11701968 No abstract available.

7

Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution.

Gianfrancesco F, Sanges R, Esposito T, Tempesta S, Rao E, Rappold G, Archidiacono N, Graves JA, Forabosco A, D'Urso M. Gianfrancesco F, et al. Genome Res. 2001 Dec;11(12):2095-100. doi: 10.1101/gr.197001. Genome Res. 2001. PMID: 11731500 Free PMC article.

8

Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate.

Gianfrancesco F, Esposito T, Ombra MN, Forabosco P, Maninchedda G, Fattorini M, Casula S, Vaccargiu S, Casu G, Cardia F, Deiana I, Melis P, Falchi M, Pirastu M. Gianfrancesco F, et al. Am J Hum Genet. 2003 Jun;72(6):1479-91. doi: 10.1086/375628. Epub 2003 May 9. Am J Hum Genet. 2003. PMID: 12740763 Free PMC article.

9

Emergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineage.

Gianfrancesco F, Esposito T, Casu G, Maninchedda G, Roberto R, Pirastu M. Gianfrancesco F, et al. Gene. 2004 Sep 15;339:131-8. doi: 10.1016/j.gene.2004.06.030. Gene. 2004. PMID: 15363853

10

[Multifactorial disorder: molecular and evolutionary insights of uric acid nephrolithiasis].

Gianfrancesco F, Esposito T. Gianfrancesco F, et al. Minerva Med. 2005 Dec;96(6):409-16. Minerva Med. 2005. PMID: 16518303 Review. Italian.

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