Scuvera G - Search Results

1

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: scuvera g. 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.

2

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.

3

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.

4

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

5

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.

6

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

7

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

8

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

9

Correction: 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. 2018 Mar;63(3):391. doi: 10.1038/s10038-017-0369-8. Epub 2018 Feb 7. J Hum Genet. 2018. PMID: 29479078

10

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

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