Scuvera G - Search Results

1

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

Paganini L, Pesenti C, Milani D, Fontana L, Motta S, Sirchia SM, Scuvera G, Marchisio P, Esposito S, Cinnante CM, Tabano SM, Miozzo MR. Paganini L, et al. Among authors: scuvera g. Am J Med Genet A. 2018 Jun;176(6):1427-1431. doi: 10.1002/ajmg.a.38704. Epub 2018 Apr 16. Am J Med Genet A. 2018. PMID: 29663667

2

Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome.

Masserini B, Bedeschi MF, Bianchi V, Scuvera G, Beck-Peccoz P, Lalatta F, Selicorni A, Orsi E. Masserini B, et al. Among authors: scuvera g. Am J Med Genet A. 2013 Apr;161A(4):817-21. doi: 10.1002/ajmg.a.35655. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495209

3

Response to "Characteristics of 2p15-p16.1 microdeletion syndrome: review and description of two additional patients".

Ronzoni L, Saletti V, Scuvera G, Esposito S, Milani D. Ronzoni L, et al. Among authors: scuvera g. Congenit Anom (Kyoto). 2015 Nov;55(4):191-2. doi: 10.1111/cga.12119. Congenit Anom (Kyoto). 2015. PMID: 26153024 No abstract available.

4

Autoimmunity and Cytokine Imbalance in Inherited Epidermolysis Bullosa.

Esposito S, Guez S, Orenti A, Tadini G, Scuvera G, Corti L, Scala A, Biganzoli E, Berti E, Principi N. Esposito S, et al. Among authors: scuvera g. Int J Mol Sci. 2016 Sep 24;17(10):1625. doi: 10.3390/ijms17101625. Int J Mol Sci. 2016. PMID: 27669234 Free PMC article.

5

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions.

Tucci A, Ciaccio C, Scuvera G, Esposito S, Milani D. Tucci A, et al. Among authors: scuvera g. Mol Cytogenet. 2016 Nov 3;9:80. doi: 10.1186/s13039-016-0289-x. eCollection 2016. Mol Cytogenet. 2016. PMID: 27822311 Free PMC article.

6

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

Ciaccio C, Tucci A, Scuvera G, Estienne M, Esposito S, Milani D. Ciaccio C, et al. Among authors: scuvera g. Eur J Med Genet. 2017 Mar;60(3):159-162. doi: 10.1016/j.ejmg.2016.12.006. Epub 2016 Dec 20. Eur J Med Genet. 2017. PMID: 28007608

7

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.

Tucci A, Pezzani L, Scuvera G, Ronzoni L, Scola E, Esposito S, Milani D. Tucci A, et al. Among authors: scuvera g. Am J Med Genet A. 2017 Mar;173(3):638-646. doi: 10.1002/ajmg.a.38054. Epub 2016 Dec 25. Am J Med Genet A. 2017. PMID: 28019079 Review.

8

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Tucci A, Saletti V, Menni F, Cesaretti C, Scuvera G, Esposito S, Melloni G, Esposito S, Milani D, Cereda C, Cigada M, Tresoldi L, Viola F, Natacci F. Tucci A, et al. Among authors: scuvera g. J Hum Genet. 2017 Nov;62(11):1001-1004. doi: 10.1038/jhg.2017.78. Epub 2017 Jul 27. J Hum Genet. 2017. PMID: 28747691

9

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

Ferrari L, Scuvera G, Tucci A, Bianchessi D, Rusconi F, Menni F, Battaglioli E, Milani D, Riva P. Ferrari L, et al. Among authors: scuvera g. Hum Genet. 2017 Oct;136(10):1329-1339. doi: 10.1007/s00439-017-1832-5. Epub 2017 Aug 3. Hum Genet. 2017. PMID: 28776093

10

Perthes disease: A new finding in Floating-Harbor syndrome.

Milani D, Scuvera G, Gatti M, Tolva G, Bonarrigo F, Esposito S, Gervasini C. Milani D, et al. Among authors: scuvera g. Am J Med Genet A. 2018 Mar;176(3):703-706. doi: 10.1002/ajmg.a.38605. Epub 2018 Jan 31. Am J Med Genet A. 2018. PMID: 29383823

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

39 results

Search Page

Filters