Miano MG - Search Results

1

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV. Conte MI, et al. Among authors: miano mg. Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12. Hum Mutat. 2014. PMID: 24339369

2

Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.

Miano MG, Valverde D, Solans T, Grammatico B, Migliaccio C, Cirigliano V, DeBernardo C, Ventruto V, Meitinger T, Wright A, Del Porto G, Baiget M, D'Urso M, Ciccodicola A. Miano MG, et al. Hum Mutat. 1998;12(3):212-3. Hum Mutat. 1998. PMID: 10651485

3

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A. Miano MG, et al. Hum Mutat. 2001 Aug;18(2):109-19. doi: 10.1002/humu.1160. Hum Mutat. 2001. PMID: 11462235

4

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV. Fusco F, et al. Among authors: miano mg. Hum Mol Genet. 2004 Aug 15;13(16):1763-73. doi: 10.1093/hmg/ddh192. Epub 2004 Jun 30. Hum Mol Genet. 2004. PMID: 15229184

5

Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction.

Fimiani G, Laperuta C, Falco G, Ventruto V, D'Urso M, Ursini MV, Miano MG. Fimiani G, et al. Among authors: miano mg. Hum Reprod. 2006 Feb;21(2):529-35. doi: 10.1093/humrep/dei356. Epub 2005 Oct 20. Hum Reprod. 2006. PMID: 16239311

6

A91V perforin variation in healthy subjects and FHLH patients.

Busiello R, Fimiani G, Miano MG, Aricò M, Santoro A, Ursini MV, Pignata C. Busiello R, et al. Among authors: miano mg. Int J Immunogenet. 2006 Apr;33(2):123-5. doi: 10.1111/j.1744-313X.2006.00582.x. Int J Immunogenet. 2006. PMID: 16611257

7

Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene.

Fusco F, Mercadante V, Miano MG, Ursini MV. Fusco F, et al. Among authors: miano mg. Gene. 2006 Nov 15;383:99-107. doi: 10.1016/j.gene.2006.07.022. Epub 2006 Aug 2. Gene. 2006. PMID: 16997509

8

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report.

Miano MG, Laperuta C, Chiurazzi P, D'Urso M, Ursini MV. Miano MG, et al. BMC Med Genet. 2007 Apr 11;8:18. doi: 10.1186/1471-2350-8-18. BMC Med Genet. 2007. PMID: 17428316 Free PMC article.

9

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

Laperuta C, Spizzichino L, D'Adamo P, Monfregola J, Maiorino A, D'Eustacchio A, Ventruto V, Neri G, D'Urso M, Chiurazzi P, Ursini MV, Miano MG. Laperuta C, et al. Among authors: miano mg. BMC Med Genet. 2007 May 4;8:25. doi: 10.1186/1471-2350-8-25. BMC Med Genet. 2007. PMID: 17480217 Free PMC article.

10

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV. Fusco F, et al. Among authors: miano mg. Hum Mutat. 2008 May;29(5):595-604. doi: 10.1002/humu.20739. Hum Mutat. 2008. PMID: 18350553

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