Rivolta C - Search Results

1

Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients.

Bibert S, Guex N, Lourenco J, Brahier T, Papadimitriou-Olivgeris M, Damonti L, Manuel O, Liechti R, Götz L, Tschopp J, Quinodoz M, Vollenweider P, Pagani JL, Oddo M, Hügli O, Lamoth F, Erard V, Voide C, Delorenzi M, Rufer N, Candotti F, Rivolta C, Boillat-Blanco N, Bochud PY; RegCOVID Study Group. Bibert S, et al. Among authors: rivolta c. Front Immunol. 2021 May 31;12:666163. doi: 10.3389/fimmu.2021.666163. eCollection 2021. Front Immunol. 2021. PMID: 34135895 Free PMC article.

2

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

Quinodoz M, Royer-Bertrand B, Cisarova K, Di Gioia SA, Superti-Furga A, Rivolta C. Quinodoz M, et al. Among authors: rivolta c. Am J Hum Genet. 2017 Oct 5;101(4):623-629. doi: 10.1016/j.ajhg.2017.09.001. Am J Hum Genet. 2017. PMID: 28985496 Free PMC article.

3

Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis.

Fregni G, Quinodoz M, Möller E, Vuille J, Galland S, Fusco C, Martin P, Letovanec I, Provero P, Rivolta C, Riggi N, Stamenkovic I. Fregni G, et al. Among authors: rivolta c. EBioMedicine. 2018 Mar;29:128-145. doi: 10.1016/j.ebiom.2018.02.017. Epub 2018 Feb 23. EBioMedicine. 2018. PMID: 29503225 Free PMC article.

4

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.

Peter VG, Nikopoulos K, Quinodoz M, Granse L, Farinelli P, Superti-Furga A, Andréasson S, Rivolta C. Peter VG, et al. Among authors: rivolta c. Ophthalmic Genet. 2019 Apr;40(2):177-181. doi: 10.1080/13816810.2019.1605391. Epub 2019 Apr 23. Ophthalmic Genet. 2019. PMID: 31012789

5

Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa.

Rehman AU, Peter VG, Quinodoz M, Dawood M, Rivolta C. Rehman AU, et al. Among authors: rivolta c. Clin Dysmorphol. 2020 Apr;29(2):86-89. doi: 10.1097/MCD.0000000000000299. Clin Dysmorphol. 2020. PMID: 31634165

6

Herpes simplex encephalitis in adult patients with MASP-2 deficiency.

Bibert S, Piret J, Quinodoz M, Collinet E, Zoete V, Michielin O, Menasria R, Meylan P, Bihl T, Erard V, Fellmann F, Rivolta C, Boivin G, Bochud PY. Bibert S, et al. Among authors: rivolta c. PLoS Pathog. 2019 Dec 23;15(12):e1008168. doi: 10.1371/journal.ppat.1008168. eCollection 2019 Dec. PLoS Pathog. 2019. PMID: 31869396 Free PMC article.

7

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.

Rehman AU, Peter VG, Quinodoz M, Rashid A, Khan SA, Superti-Furga A, Rivolta C. Rehman AU, et al. Among authors: rivolta c. Genes (Basel). 2019 Dec 21;11(1):12. doi: 10.3390/genes11010012. Genes (Basel). 2019. PMID: 31877759 Free PMC article.

8

Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome.

Panagiotou ES, Papathomas T, Nikopoulos K, Koukoula S, Quinodoz M, Rehman AU, Giannopoulos T, Rivolta C, Konstas AG. Panagiotou ES, et al. Among authors: rivolta c. Ophthalmol Ther. 2020 Sep;9(3):677-684. doi: 10.1007/s40123-020-00276-4. Epub 2020 Jun 21. Ophthalmol Ther. 2020. PMID: 32566994 Free PMC article.

9

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.

Salmaninejad A, Bedoni N, Ravesh Z, Quinodoz M, Shoeibi N, Mojarrad M, Pasdar A, Rivolta C. Salmaninejad A, et al. Among authors: rivolta c. Sci Rep. 2020 Nov 10;10(1):19413. doi: 10.1038/s41598-020-75841-9. Sci Rep. 2020. PMID: 33173045 Free PMC article.

10

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.

Peter VG, Quinodoz M, Sadio S, Held S, Rodrigues M, Soares M, Sousa AB, Coutinho Santos L, Damme M, Rivolta C. Peter VG, et al. Among authors: rivolta c. Hum Mutat. 2021 Mar;42(3):261-271. doi: 10.1002/humu.24150. Epub 2020 Dec 25. Hum Mutat. 2021. PMID: 33300174

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