Sangiorgi E - Search Results

1

Identification of new candidate genes for spina bifida through exome sequencing.

Azzarà A, Rendeli C, Crivello AM, Brugnoletti F, Rumore R, Ausili E, Sangiorgi E, Gurrieri F. Azzarà A, et al. Among authors: sangiorgi e. Childs Nerv Syst. 2021 Aug;37(8):2589-2596. doi: 10.1007/s00381-021-05153-4. Epub 2021 Apr 15. Childs Nerv Syst. 2021. PMID: 33855610

2

Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.

La Carpia F, Rendeli C, Molinario C, Milillo A, Farroni C, Cannelli N, Ausili E, Paolucci V, Neri G, Romagnoli C, Sangiorgi E, Gurrieri F. La Carpia F, et al. Among authors: sangiorgi e. Childs Nerv Syst. 2016 Jul;32(7):1343. doi: 10.1007/s00381-016-3121-3. Childs Nerv Syst. 2016. PMID: 27193010 No abstract available.

3

Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura.

Milillo A, Molinario C, Costanzi S, Vischini G, La Carpia F, La Greca F, Rigante D, Gambaro G, Gurrieri F, Sangiorgi E. Milillo A, et al. Among authors: sangiorgi e. J Nephrol. 2018 Oct;31(5):731-741. doi: 10.1007/s40620-018-0482-6. Epub 2018 Mar 1. J Nephrol. 2018. PMID: 29497996

4

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.

Sangiorgi E, Azzarà A, Molinario C, Pietrobono R, Rigante D, Verrecchia E, Sicignano LL, Genuardi M, Gurrieri F, Manna R. Sangiorgi E, et al. Eur J Hum Genet. 2019 Sep;27(9):1361-1368. doi: 10.1038/s41431-019-0421-6. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053777 Free PMC article. Review.

5

DNA Methylation in the Diagnosis of Monogenic Diseases.

Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: sangiorgi e. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.

6

Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis.

D'Ambrosio V, Azzarà A, Sangiorgi E, Gurrieri F, Hess B, Gambaro G, Ferraro PM. D'Ambrosio V, et al. Among authors: sangiorgi e. Kidney Blood Press Res. 2021;46(4):469-474. doi: 10.1159/000516389. Epub 2021 Jun 9. Kidney Blood Press Res. 2021. PMID: 34107482 Free article.

7

RADX Gene Variant May Predispose to Familial Asperger Syndrome.

Azzarà A, Rumore R, Brugnoletti F, Tabolacci E, Bottillo I, Sangiorgi E, Gurrieri F. Azzarà A, et al. Among authors: sangiorgi e. Genes (Basel). 2023 Jan 23;14(2):301. doi: 10.3390/genes14020301. Genes (Basel). 2023. PMID: 36833228 Free PMC article.

8

Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers.

Sangiorgi E, Azzarà A, Rumore R, Cassano I, Verrecchia E, Giacò L, Tullio MA, Gurrieri F, Manna R. Sangiorgi E, et al. Genes (Basel). 2023 Jun 21;14(7):1310. doi: 10.3390/genes14071310. Genes (Basel). 2023. PMID: 37510214 Free PMC article.

9

Rearrangements of chromosome 15 in epilepsy.

Torrisi L, Sangiorgi E, Russo L, Gurrieri F. Torrisi L, et al. Among authors: sangiorgi e. Am J Med Genet. 2001 Summer;106(2):125-8. doi: 10.1002/ajmg.1570. Am J Med Genet. 2001. PMID: 11579432

10

Limb anomalies: Developmental and evolutionary aspects.

Gurrieri F, Kjaer KW, Sangiorgi E, Neri G. Gurrieri F, et al. Among authors: sangiorgi e. Am J Med Genet. 2002 Dec 30;115(4):231-44. doi: 10.1002/ajmg.10981. Am J Med Genet. 2002. PMID: 12503118 Review.

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