Pomponi MG - Search Results

1

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD. Grasso M, et al. Among authors: pomponi mg. Am J Med Genet. 1999 Jul 30;85(3):311-6. doi: 10.1002/(sici)1096-8628(19990730)85:3<311::aid-ajmg24>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10398249

2

Further contribution to the description of phenotypes associated with partial 4q duplication.

Zollino M, Zampino G, Torrioli G, Pomponi MG, Neri G. Zollino M, et al. Among authors: pomponi mg. Am J Med Genet. 1995 May 22;57(1):69-73. doi: 10.1002/ajmg.1320570116. Am J Med Genet. 1995. PMID: 7645603 Review.

3

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L. Gurrieri F, et al. Among authors: pomponi mg. Am J Med Genet. 1995 Jan 30;55(3):315-8. doi: 10.1002/ajmg.1320550314. Am J Med Genet. 1995. PMID: 7726229

4

Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro.

Pomponi MG, Neri G. Pomponi MG, et al. Am J Med Genet. 1994 Jul 15;51(4):447-50. doi: 10.1002/ajmg.1320510428. Am J Med Genet. 1994. PMID: 7943015

5

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.

Kozák L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, Neri G. Kozák L, et al. Among authors: pomponi mg. J Med Genet. 1993 Oct;30(10):866-9. doi: 10.1136/jmg.30.10.866. J Med Genet. 1993. PMID: 8230164 Free PMC article.

6

Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.

Genuardi M, Pomponi MG, Sammito V, Bellussi A, Zollino M, Neri G. Genuardi M, et al. Among authors: pomponi mg. Am J Med Genet. 1993 Nov 1;47(6):823-31. doi: 10.1002/ajmg.1320470606. Am J Med Genet. 1993. PMID: 8279479

7

Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.

Sebastio G, Perone L, Guzzetta V, Sebastio L, Vicari L, Della Casa R, Gurrieri F, Zappata S, Pomponi MG, Mazzei A, Neri G, Andria G, Brahe C. Sebastio G, et al. Among authors: pomponi mg. Am J Med Genet. 1996 May 17;63(2):366-72. doi: 10.1002/(SICI)1096-8628(19960517)63:2<366::AID-AJMG8>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8725787

8

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.

Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri G. Battaglia A, et al. Among authors: pomponi mg. Neurology. 1997 Apr;48(4):1081-6. doi: 10.1212/wnl.48.4.1081. Neurology. 1997. PMID: 9109904

9

In vitro reactivation of the FMR1 gene involved in fragile X syndrome.

Chiurazzi P, Pomponi MG, Willemsen R, Oostra BA, Neri G. Chiurazzi P, et al. Among authors: pomponi mg. Hum Mol Genet. 1998 Jan;7(1):109-13. doi: 10.1093/hmg/7.1.109. Hum Mol Genet. 1998. PMID: 9384610

10

DNA panel for interlaboratory standardization of haplotype studies on the fragile X syndrome and proposal for a new allele nomenclature.

Chiurazzi P, Pomponi MG, Sharrock A, Macpherson J, Lormeau S, Morel ML, Rousseau F. Chiurazzi P, et al. Among authors: pomponi mg. Am J Med Genet. 1999 Apr 2;83(4):347-9. Am J Med Genet. 1999. PMID: 10208178 No abstract available.

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