Silipigni R - Search Results

1

Clinical features and magnesium levels: Novel insights in 15q11.2 BP1-BP2 copy number variants.

Meossi C, Carrer A, Ciaccio C, Estienne M, Silipigni R, Sciacca FL, Pantaleoni C, D'Arrigo S, Milani D. Meossi C, et al. Among authors: silipigni r. J Intellect Disabil Res. 2023 Jul;67(7):679-689. doi: 10.1111/jir.13038. Epub 2023 May 2. J Intellect Disabil Res. 2023. PMID: 37129092

2

HOXA genes cluster: clinical implications of the smallest deletion.

Pezzani L, Milani D, Manzoni F, Baccarin M, Silipigni R, Guerneri S, Esposito S. Pezzani L, et al. Among authors: silipigni r. Ital J Pediatr. 2015 Apr 10;41:31. doi: 10.1186/s13052-015-0137-3. Ital J Pediatr. 2015. PMID: 25881986 Free PMC article.

3

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test.

Tolva G, Silipigni R, Quarenghi A, Vergani P, Guerneri S, Milani D. Tolva G, et al. Among authors: silipigni r. J Obstet Gynaecol Res. 2019 Mar;45(3):705-708. doi: 10.1111/jog.13873. Epub 2018 Dec 13. J Obstet Gynaecol Res. 2019. PMID: 30549132

4

Unexpected phenotype in a frameshift mutation of PTCH1.

Beltrami B, Prada E, Tolva G, Scuvera G, Silipigni R, Graziani D, Bulfamante G, Gervasini C, Marchisio P, Milani D. Beltrami B, et al. Among authors: silipigni r. Mol Genet Genomic Med. 2020 Jan;8(1):e987. doi: 10.1002/mgg3.987. Epub 2019 Oct 2. Mol Genet Genomic Med. 2020. PMID: 31578813 Free PMC article.

5

Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5.

Aleo S, Milani D, Pansa A, Marchisio P, Guerneri S, Silipigni R. Aleo S, et al. Among authors: silipigni r. Am J Med Genet A. 2020 Dec;182(12):3071-3073. doi: 10.1002/ajmg.a.61881. Epub 2020 Sep 25. Am J Med Genet A. 2020. PMID: 32975021 No abstract available.

6

Complex genomic alterations and intellectual disability: an interpretative challenge.

Silipigni R, Milani D, Tolva G, Monfrini E, Giacobbe A, Marchisio PG, Guerneri S. Silipigni R, et al. J Intellect Disabil Res. 2021 Feb;65(2):113-124. doi: 10.1111/jir.12797. Epub 2020 Nov 2. J Intellect Disabil Res. 2021. PMID: 33140510

7

Incidental finding of APC deletion in a child: double trouble or double chance? - a case report.

Rosina E, Rinaldi B, Silipigni R, Bergamaschi L, Gattuso G, Signoroni S, Guerneri S, Carnevali A, Marchisio PG, Milani D. Rosina E, et al. Among authors: silipigni r. Ital J Pediatr. 2021 Feb 15;47(1):31. doi: 10.1186/s13052-021-00969-x. Ital J Pediatr. 2021. PMID: 33588901 Free PMC article.

8

Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? - a case report.

Rosina E, Rinaldi B, Silipigni R, Bergamaschi L, Gattuso G, Signoroni S, Guerneri S, Carnevali A, Marchisio PG, Milani D. Rosina E, et al. Among authors: silipigni r. Ital J Pediatr. 2021 Sep 14;47(1):185. doi: 10.1186/s13052-021-01135-z. Ital J Pediatr. 2021. PMID: 34521463 Free PMC article. No abstract available.

9

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.

Ronzoni L, Boito S, Meossi C, Cesaretti C, Rinaldi B, Agolini E, Rizzuti T, Pezzoli L, Silipigni R, Novelli A, Iascone M, Persico N, Natacci F. Ronzoni L, et al. Among authors: silipigni r. Prenat Diagn. 2022 Nov;42(12):1493-1502. doi: 10.1002/pd.6204. Epub 2022 Jul 19. Prenat Diagn. 2022. PMID: 35788948 Review.

10

Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features.

Silipigni R, Cattaneo E, Baccarin M, Fumagalli M, Bedeschi MF. Silipigni R, et al. Eur J Med Genet. 2016 Jan;59(1):39-42. doi: 10.1016/j.ejmg.2015.12.005. Epub 2015 Dec 15. Eur J Med Genet. 2016. PMID: 26700408

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