Venturini G - Search Results

1

Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.

von Alpen D, Tran HV, Guex N, Venturini G, Munier FL, Schorderet DF, Haider NB, Escher P. von Alpen D, et al. Among authors: venturini g. Hum Mutat. 2015 Jun;36(6):599-610. doi: 10.1002/humu.22775. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25703721 Free PMC article.

2

In vivo analysis of onset and progression of retinal degeneration in the Nr2e3^rd7/rd7 mouse model of enhanced S-cone sensitivity syndrome.

Venturini G, Kokona D, Steiner BL, Bulla EG, Jovanovic J, Zinkernagel MS, Escher P. Venturini G, et al. Sci Rep. 2021 Sep 24;11(1):19032. doi: 10.1038/s41598-021-98271-7. Sci Rep. 2021. PMID: 34561487 Free PMC article.

3

Author Correction: In vivo analysis of onset and progression of retinal degeneration in the Nr2e3^rd7/rd7 mouse model of enhanced S-cone sensitivity syndrome.

Venturini G, Kokona D, Steiner BL, Bulla EG, Jovanovic J, Zinkernagel MS, Escher P. Venturini G, et al. Sci Rep. 2021 Oct 13;11(1):20668. doi: 10.1038/s41598-021-00207-8. Sci Rep. 2021. PMID: 34645827 Free PMC article. No abstract available.

4

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Nishiguchi KM, et al. Among authors: venturini g. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043777 Free PMC article.

5

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

Venturini G, Di Gioia SA, Harper S, Weigel-DiFranco C, Rivolta C, Berson EL. Venturini G, et al. PLoS One. 2014 Mar 20;9(3):e92479. doi: 10.1371/journal.pone.0092479. eCollection 2014. PLoS One. 2014. PMID: 24651477 Free PMC article.

6

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

Venturini G, Rose AM, Shah AZ, Bhattacharya SS, Rivolta C. Venturini G, et al. PLoS Genet. 2012;8(11):e1003040. doi: 10.1371/journal.pgen.1003040. Epub 2012 Nov 8. PLoS Genet. 2012. PMID: 23144630 Free PMC article.

7

Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.

Venturini G, Moulin AP, Deprez M, Uffer S, Bottani A, Zografos L, Rivolta C. Venturini G, et al. Ophthalmology. 2012 Apr;119(4):857-64. doi: 10.1016/j.ophtha.2011.09.057. Epub 2012 Jan 26. Ophthalmology. 2012. PMID: 22281088

8

Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".

Rose AM, Shah AZ, Venturini G, Rivolta C, Rose GE, Bhattacharya SS. Rose AM, et al. Among authors: venturini g. Ann Hum Genet. 2014 Jan;78(1):62-71. doi: 10.1111/ahg.12042. Epub 2013 Oct 14. Ann Hum Genet. 2014. PMID: 24116917 Free PMC article.

9

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.

Venturini G, Koskiniemi-Kuendig H, Harper S, Berson EL, Rivolta C. Venturini G, et al. Genet Med. 2015 Apr;17(4):285-90. doi: 10.1038/gim.2014.132. Epub 2014 Sep 25. Genet Med. 2015. PMID: 25255364 Free article.

10

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Saqib MA, Nikopoulos K, Ullah E, Sher Khan F, Iqbal J, Bibi R, Jarral A, Sajid S, Nishiguchi KM, Venturini G, Ansar M, Rivolta C. Saqib MA, et al. Among authors: venturini g. Sci Rep. 2015 May 6;5:9965. doi: 10.1038/srep09965. Sci Rep. 2015. PMID: 25943428 Free PMC article.

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