Pomponi MG[au] - Search Results

Year	Number of Results
1993	2
1994	1
1995	2
1996	2
1997	2
1998	1
1999	5
2001	1
2002	1
2003	3
2004	5
2005	1
2006	2
2007	2
2008	3
2009	2
2010	4
2011	1
2012	4
2013	1
2016	1
2017	3
2018	3
2019	4
2020	3
2021	2
2022	0

1

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

Vaisfeld A, Pomponi MG, Pietrobono R, Tabolacci E, Neri G. Vaisfeld A, et al. Among authors: pomponi mg. Am J Med Genet A. 2017 Jan;173(1):285-288. doi: 10.1002/ajmg.a.38003. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739211 Review.

2

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.

Lattante S, Pomponi MG, Conte A, Marangi G, Bisogni G, Patanella AK, Meleo E, Lunetta C, Riva N, Mosca L, Carrera P, Bee M, Zollino M, Sabatelli M. Lattante S, et al. Among authors: pomponi mg. Neurobiol Aging. 2018 Apr;64:157.e1-157.e5. doi: 10.1016/j.neurobiolaging.2017.11.011. Epub 2017 Nov 28. Neurobiol Aging. 2018. PMID: 29274668

3

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis.

Tabolacci E, Pomponi MG, Remondini L, Pietrobono R, Orteschi D, Nobile V, Pucci C, Musto E, Pane M, Mercuri EM, Neri G, Genuardi M, Chiurazzi P, Zollino M. Tabolacci E, et al. Among authors: pomponi mg. Genes (Basel). 2021 Nov 27;12(12):1909. doi: 10.3390/genes12121909. Genes (Basel). 2021. PMID: 34946857 Free PMC article.

4

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.

Riso V, Rossi S, Nicoletti TF, Tessa A, Travaglini L, Zanni G, Aiello C, Perna A, Barghigiani M, Pomponi MG, Santorelli FM, Silvestri G. Riso V, et al. Among authors: pomponi mg. Brain Sci. 2021 Feb 16;11(2):246. doi: 10.3390/brainsci11020246. Brain Sci. 2021. PMID: 33669240 Free PMC article.

5

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2.

Rossi S, Romano A, Modoni A, Perna F, Rizzo V, Santoro M, Monforte M, Pieroni M, Luigetti M, Pomponi MG, Silvestri G. Rossi S, et al. Among authors: pomponi mg. Eur Neurol. 2018;79(3-4):166-170. doi: 10.1159/000487508. Epub 2018 Mar 13. Eur Neurol. 2018. PMID: 29533949

6

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families.

Tabolacci E, Pietrobono R, Maneri G, Remondini L, Nobile V, Della Monica M, Pomponi MG, Genuardi M, Neri G, Chiurazzi P. Tabolacci E, et al. Among authors: pomponi mg. Genes (Basel). 2020 Feb 26;11(3):248. doi: 10.3390/genes11030248. Genes (Basel). 2020. PMID: 32111011 Free PMC article.

7

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.

Tabolacci E, Pomponi MG, Remondini L, Pietrobono R, Nobile V, Pennacchio G, Gurrieri F, Neri G, Genuardi M, Chiurazzi P. Tabolacci E, et al. Among authors: pomponi mg. Eur J Hum Genet. 2020 May;28(5):567-575. doi: 10.1038/s41431-019-0554-7. Epub 2019 Dec 5. Eur J Hum Genet. 2020. PMID: 31804632 Free PMC article.

8

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.

9

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

Vaisfeld A, Calicchia M, Pomponi MG, Lucci-Cordisco E, Reggiani-Bonetti L, Genuardi M. Vaisfeld A, et al. Among authors: pomponi mg. Fam Cancer. 2019 Oct;18(4):421-427. doi: 10.1007/s10689-019-00139-3. Fam Cancer. 2019. PMID: 31292797

10

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.

Santoro M, Perna A, La Rosa P, Petrillo S, Piemonte F, Rossi S, Riso V, Nicoletti TF, Modoni A, Pomponi MG, Chiurazzi P, Silvestri G. Santoro M, et al. Among authors: pomponi mg. Neurogenetics. 2020 Oct;21(4):279-287. doi: 10.1007/s10048-020-00620-7. Epub 2020 Jul 7. Neurogenetics. 2020. PMID: 32638185

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