Stangoni G - Search Results

1

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report.

Pacitto A, Prontera P, Stangoni G, Stefanelli M, Ceppi S, Cerri C, Gurdo G, Mencarelli A, Esposito S. Pacitto A, et al. Among authors: stangoni g. Int J Mol Sci. 2019 Jan 27;20(3):527. doi: 10.3390/ijms20030527. Int J Mol Sci. 2019. PMID: 30691194 Free PMC article.

2

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

Mencarelli A, Prontera P, Stangoni G, Mencaroni E, Principi N, Esposito S. Mencarelli A, et al. Among authors: stangoni g. Int J Mol Sci. 2017 Oct 29;18(11):2273. doi: 10.3390/ijms18112273. Int J Mol Sci. 2017. PMID: 29109381 Free PMC article. Review.

3

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.

Mencarelli A, Prontera P, Mencarelli A, Rogaia D, Stangoni G, Cecconi M, Esposito S. Mencarelli A, et al. Among authors: stangoni g. Int J Mol Sci. 2018 Oct 16;19(10):3189. doi: 10.3390/ijms19103189. Int J Mol Sci. 2018. PMID: 30332768 Free PMC article.

4

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Prontera P, Rogaia D, Mencarelli A, Ottaviani V, Sallicandro E, Guercini G, Esposito S, Bersano A, Merla G, Stangoni G. Prontera P, et al. Among authors: stangoni g. Int J Mol Sci. 2017 Sep 17;18(9):1998. doi: 10.3390/ijms18091998. Int J Mol Sci. 2017. PMID: 28926972 Free PMC article. Review.

5

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Lucchetti L, Prontera P, Mencarelli A, Sallicandro E, Mencarelli A, Cofini M, Leonardi A, Stangoni G, Penta L, Esposito S. Lucchetti L, et al. Among authors: stangoni g. Front Endocrinol (Lausanne). 2018 Apr 10;9:163. doi: 10.3389/fendo.2018.00163. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 29692759 Free PMC article.

6

Porencephaly in an Italian neonate with foetal alcohol spectrum disorder: A case report.

Mencarelli A, Prontera P, Stangoni G, Troiani S, Becchetti T, Pacitto A, Esposito S. Mencarelli A, et al. Among authors: stangoni g. Medicine (Baltimore). 2020 Jul 31;99(31):e21384. doi: 10.1097/MD.0000000000021384. Medicine (Baltimore). 2020. PMID: 32756128 Free PMC article.

7

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.

Fattorusso A, Pieri ES, Dell'Isola GB, Prontera P, Mencaroni E, Stangoni G, Esposito S. Fattorusso A, et al. Among authors: stangoni g. Medicine (Baltimore). 2020 Jul 2;99(27):e20995. doi: 10.1097/MD.0000000000020995. Medicine (Baltimore). 2020. PMID: 32629717 Free PMC article.

8

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.

Prontera P, Rogaia D, Sallicandro E, Mencarelli A, Imperatore V, Squeo GM, Merla G, Elisei S, Moretti-Ferreira D, Esposito S, Stangoni G. Prontera P, et al. Among authors: stangoni g. Eur J Hum Genet. 2019 Aug;27(8):1260-1266. doi: 10.1038/s41431-019-0385-6. Epub 2019 Apr 1. Eur J Hum Genet. 2019. PMID: 30936464 Free PMC article.

9

A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.

Farnè M, Tedesco GM, Bedetti C, Mencarelli A, Rogaia D, Colavito D, Di Cara G, Stangoni G, Troiani S, Ferlini A, Prontera P. Farnè M, et al. Among authors: stangoni g. Am J Med Genet A. 2020 Oct;182(10):2377-2383. doi: 10.1002/ajmg.a.61773. Epub 2020 Aug 3. Am J Med Genet A. 2020. PMID: 32744787

10

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Prontera P, Stangoni G, Ardisia C, Rogaia D, Mencarelli A, Donti E. Prontera P, et al. Among authors: stangoni g. Am J Med Genet A. 2011 Apr;155A(4):928-30. doi: 10.1002/ajmg.a.33817. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416586 No abstract available.

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