Villa R - Search Results

1

Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.

Capecchi E, Villa R, Pini A, Iascone M, Messina L, Ajmone PF, Mosca F, Gangi S, Bedeschi MF. Capecchi E, et al. Among authors: villa r. Ital J Pediatr. 2024 May 7;50(1):94. doi: 10.1186/s13052-024-01643-8. Ital J Pediatr. 2024. PMID: 38715046 Free PMC article.

2

A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.

Bedeschi MF, Crippa BL, Colombo L, Buscemi M, Rossi C, Villa R, Gangi S, Picciolini O, Cinnante C, Fergnani VGC, Ajmone PF, Scola E, Triulzi F, Mosca F. Bedeschi MF, et al. Among authors: villa r. Ital J Pediatr. 2020 Apr 23;46(1):53. doi: 10.1186/s13052-020-0806-8. Ital J Pediatr. 2020. PMID: 32326958 Free PMC article.

3

CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia.

Consales A, Crippa BL, Colombo L, Villa R, Menni F, Giavoli C, Mosca F, Bedeschi MF. Consales A, et al. Among authors: villa r. Ital J Pediatr. 2022 Aug 20;48(1):154. doi: 10.1186/s13052-022-01341-3. Ital J Pediatr. 2022. PMID: 35987847 Free PMC article.

4

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.

Rimoldi M, Rinaldi B, Villa R, Cerasani J, Beltrami B, Iascone M, Silipigni R, Boito S, Gangi S, Colombo L, Porro M, Cesaretti C, Bedeschi MF. Rimoldi M, et al. Among authors: villa r. Am J Med Genet A. 2023 Feb;191(2):605-611. doi: 10.1002/ajmg.a.63054. Epub 2022 Nov 23. Am J Med Genet A. 2023. PMID: 36416235

5

Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

Conti B, Rinaldi B, Rimoldi M, Villa R, Iascone M, Gangi S, Porro M, Ajmone PF, Colli AM, Mosca F, Bedeschi MF. Conti B, et al. Among authors: villa r. Am J Med Genet A. 2023 Jun;191(6):1586-1592. doi: 10.1002/ajmg.a.63164. Epub 2023 Feb 26. Am J Med Genet A. 2023. PMID: 36843271 Free article.

6

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.

Rinaldi B, Villa R, Sironi A, Garavelli L, Finelli P, Bedeschi MF. Rinaldi B, et al. Among authors: villa r. Genes (Basel). 2022 Feb 11;13(2):335. doi: 10.3390/genes13020335. Genes (Basel). 2022. PMID: 35205380 Free PMC article. Review.

7

Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.

Consales A, Ardemani G, Cinnante CM, Catalano MR, Giavoli C, Villa R, Iascone M, Fontana C, Bedeschi MF, Fumagalli M. Consales A, et al. Among authors: villa r. BMC Neurol. 2022 Mar 24;22(1):118. doi: 10.1186/s12883-022-02618-0. BMC Neurol. 2022. PMID: 35331151 Free PMC article. Review.

8

Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

Beltrami B, Cerasani J, Consales A, Villa R, Resta N, Loconte DC, Boito S, Caschera L, Bassi L, Colombo L, Iascone M, Bedeschi MF. Beltrami B, et al. Among authors: villa r. Clin Case Rep. 2022 Aug 22;10(8):e6256. doi: 10.1002/ccr3.6256. eCollection 2022 Aug. Clin Case Rep. 2022. PMID: 36017115 Free PMC article.

9

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.

Rodari G, Villa R, Porro M, Gangi S, Iascone M, Elli F, Giacchetti F, Profka E, Collini V, Dall'Antonia A, Arosio M, Mantovani G, Bedeschi MF, Giavoli C. Rodari G, et al. Among authors: villa r. Eur J Hum Genet. 2023 Feb;31(2):195-201. doi: 10.1038/s41431-022-01220-9. Epub 2022 Nov 9. Eur J Hum Genet. 2023. PMID: 36348013 Free PMC article.

10

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.

Villa R, Fergnani VGC, Silipigni R, Guerneri S, Cinnante C, Guala A, Danesino C, Scola E, Conte G, Fumagalli M, Gangi S, Colombo L, Picciolini O, Ajmone PF, Accogli A, Madia F, Tassano E, Scala M, Capra V, Srour M, Spaccini L, Righini A, Greco D, Castiglia L, Romano C, Bedeschi MF. Villa R, et al. Eur J Paediatr Neurol. 2020 Sep;28:110-119. doi: 10.1016/j.ejpn.2020.07.002. Epub 2020 Jul 28. Eur J Paediatr Neurol. 2020. PMID: 32800423 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

1,360 results

Search Page