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Items: 10

1.

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.

Moye AR, Bedoni N, Cunningham JG, Sanzhaeva U, Tucker ES, Mathers P, Peter VG, Quinodoz M, Paris LP, Coutinho-Santos L, Camacho P, Purcell MG, Winkelmann AC, Foster JA, Pugacheva EN, Rivolta C, Ramamurthy V.

PLoS Genet. 2019 Aug 19;15(8):e1008315. doi: 10.1371/journal.pgen.1008315. eCollection 2019 Aug.

2.

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene.

Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B.

Genet Med. 2019 Jul 2. doi: 10.1038/s41436-019-0595-x. [Epub ahead of print]

PMID:
31263216
3.

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.

Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C.

Nat Commun. 2019 Jun 28;10(1):2884. doi: 10.1038/s41467-019-10746-4.

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.

Ophthalmic Genet. 2019 Apr;40(2):177-181. doi: 10.1080/13816810.2019.1605391. Epub 2019 Apr 23.

PMID:
31012789
5.

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.

EBioMedicine. 2018 Mar;29:128-145. doi: 10.1016/j.ebiom.2018.02.017. Epub 2018 Feb 23.

6.

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

Astuti GDN, van den Born LI, Khan MI, Hamel CP, Bocquet B, Manes G, Quinodoz M, Ali M, Toomes C, McKibbin M, El-Asrag ME, Haer-Wigman L, Inglehearn CF, Black GCM, Hoyng CB, Cremers FPM, Roosing S.

Genes (Basel). 2018 Jan 10;9(1). pii: E21. doi: 10.3390/genes9010021.

7.

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.

Am J Hum Genet. 2017 Oct 5;101(4):623-629. doi: 10.1016/j.ajhg.2017.09.001.

8.

Likelihood-Free Inference in High-Dimensional Models.

Kousathanas A, Leuenberger C, Helfer J, Quinodoz M, Foll M, Wegmann D.

Genetics. 2016 Jun;203(2):893-904. doi: 10.1534/genetics.116.187567. Epub 2016 Apr 6.

9.

Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promoters.

Quinodoz M, Gobet C, Naef F, Gustafson KB.

Genome Biol. 2014 Jun 12;15(6):R85. doi: 10.1186/gb-2014-15-6-r85.

10.

Barium sulphate and soft-tissue radiology: allying the old and the new for the investigation of animal cutaneous microcirculation.

Quinodoz P, Quinodoz M, Nussbaum JL, Montandon D, Pittet B.

Br J Plast Surg. 2002 Dec;55(8):664-7.

PMID:
12550120

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