Genovese S - Search Results

1

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.

Alesi V, Sessini F, Genovese S, Calvieri G, Sallicandro E, Ciocca L, Mingoia M, Novelli A, Moi P. Alesi V, et al. Among authors: genovese s. Int J Mol Sci. 2021 Feb 20;22(4):2106. doi: 10.3390/ijms22042106. Int J Mol Sci. 2021. PMID: 33672664 Free PMC article.

2

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

Grotta S, D'Elia G, Scavelli R, Genovese S, Surace C, Sirleto P, Cozza R, Romanzo A, De Ioris MA, Valente P, Tomaiuolo AC, Lepri FR, Franchin T, Ciocca L, Russo S, Locatelli F, Angioni A. Grotta S, et al. Among authors: genovese s. BMC Cancer. 2015 Nov 4;15:841. doi: 10.1186/s12885-015-1854-0. BMC Cancer. 2015. PMID: 26530098 Free PMC article.

3

Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

Sofia VM, Da Sacco L, Surace C, Tomaiuolo AC, Genovese S, Grotta S, Gnazzo M, Ciocca L, Petrocchi S, Alghisi F, Montemitro E, Martemucci L, Elce A, Lucidi V, Castaldo G, Angioni A. Sofia VM, et al. Among authors: genovese s. Mol Med. 2016 Sep;22:300-309. doi: 10.2119/molmed.2016.00010. Epub 2016 May 26. Mol Med. 2016. PMID: 27264265 Free PMC article.

4

Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.

Alesi V, Orlando V, Genovese S, Loddo S, Pisaneschi E, Pompili D, Surace C, Restaldi F, Digilio MC, Dallapiccola B, Dentici ML, Novelli A. Alesi V, et al. Among authors: genovese s. Cytogenet Genome Res. 2017;151(4):179-185. doi: 10.1159/000475490. Epub 2017 May 6. Cytogenet Genome Res. 2017. PMID: 28478456

5

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.

Alesi V, Dentici ML, Loddo S, Genovese S, Orlando V, Calacci C, Pompili D, Dallapiccola B, Digilio MC, Novelli A. Alesi V, et al. Among authors: genovese s. Ann Hum Genet. 2019 Mar;83(2):100-109. doi: 10.1111/ahg.12289. Epub 2018 Oct 10. Ann Hum Genet. 2019. PMID: 30302754

6

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Ponzi E, Alesi V, Lepri FR, Genovese S, Loddo S, Mucciolo M, Novelli A, Dionisi-Vici C, Maiorana A. Ponzi E, et al. Among authors: genovese s. Mol Genet Genomic Med. 2019 May;7(5):e634. doi: 10.1002/mgg3.634. Epub 2019 Mar 27. Mol Genet Genomic Med. 2019. PMID: 30916492 Free PMC article.

7

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

Alesi V, Loddo S, Calì F, Orlando V, Genovese S, Ferretti D, Calacci C, Calvieri G, Falasca R, Ulgheri L, Drago F, Dallapiccola B, Baban A, Novelli A. Alesi V, et al. Among authors: genovese s. Am J Med Genet A. 2019 Aug;179(8):1615-1621. doi: 10.1002/ajmg.a.61217. Epub 2019 May 30. Am J Med Genet A. 2019. PMID: 31145527 Review.

8

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

Restaldi F, Alesi V, Aquilani A, Genovese S, Russo S, Coletti V, Pompili D, Falasca R, Dallapiccola B, Capolino R, Luciani M, Novelli A. Restaldi F, et al. Among authors: genovese s. Mol Cytogenet. 2019 Jun 14;12:26. doi: 10.1186/s13039-019-0440-6. eCollection 2019. Mol Cytogenet. 2019. PMID: 31223340 Free PMC article.

9

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

Gnazzo M, Lepri FR, Dentici ML, Capolino R, Pisaneschi E, Agolini E, Rinelli M, Alesi V, Versacci P, Genovese S, Cesario C, Sinibaldi L, Baban A, Bartuli A, Marino B, Cappa M, Dallapiccola B, Novelli A, Digilio MC. Gnazzo M, et al. Among authors: genovese s. Am J Med Genet A. 2020 May;182(5):1073-1083. doi: 10.1002/ajmg.a.61524. Epub 2020 Mar 3. Am J Med Genet A. 2020. PMID: 32124548

10

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.

Loddo S, Alesi V, Radio FC, Genovese S, Di Tommaso S, Calvieri G, Orlando V, Bertini E, Dentici ML, Novelli A, Dallapiccola B. Loddo S, et al. Among authors: genovese s. Am J Med Genet A. 2020 Dec;182(12):3014-3022. doi: 10.1002/ajmg.a.61889. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985083 Review.

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