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Year Number of Results
1964 1
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2007 2
2008 1
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2013 1
2014 2
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73 results

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Page 1
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: perrier r. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
van Oirsouw ASE, Nedbalova P, Hancarova M, Prchal J, Prchalova D, Vlckova M, Bendova S, Monaghan KG, Dyer LM, Chen Y, Carere DA, Te Bogt EAM, Fisher H, Scheuerle AE, Riley S, Jain M, Mu W, Bodurtha JN, van Eerde AM, Stokman MF, Longo N, Balasubramanian M, Spiller M, Costain G, von der Lippe C, Tveten K, Jortveit M, Holla ØL, Isidor B, Cogné B, Glinton KE, Vuocolo B, Sierra RA, Angle B, Bontempo K, Koop K, Rabin R, Pappas J, Staffenberg DA, Joset P, Miny P, Filges I, Alali A, Vitalone K, Rosenfeld JA, Bi W, Bradbrook S, Perrier R, Ramanathan S, Gold JA, Palomares Bralo M, Ángeles Gómez-Cano M, Olney AH, Nielsen S, Ziegler A, Bonneau D, Prouteau C, Bruel AL, Caille-Benigni C, Lambert L, Yu AC, Robin NH, Goodloe D, Fischer J, Porrmann J, Hennig YD, Abou Jamra R, Herman I, Johnson IR, Hérissant L, Jouret G, van Gassen KLI, van Binsbergen E, van der Zwaag B, Kamermans A, Oegema R, Sedlacek Z, Fenckova M, van Jaarsveld RH. van Oirsouw ASE, et al. Among authors: perrier r. Genet Med. 2025 Nov;27(11):101555. doi: 10.1016/j.gim.2025.101555. Epub 2025 Aug 13. Genet Med. 2025. PMID: 40819229 Free article.
Ca2+ Cycling Alteration in a Porcine Model of Right Ventricular Dysfunction.
Antigny F, Luo R, Perrier R, Masson B, Fadel G, Ruffenach G, Saint-Martin Willer A, Akamkam A, Grynblat J, Jaïs X, Le Pavec J, Dang Van S, Brunet D, Lefebvre F, Gérard G, Domenichini S, Boët A, Guihaire J, Gomez AM, Montani D, Benitah JP, Humbert M, Mercier O, Sabourin J. Antigny F, et al. Among authors: perrier r. Circ Heart Fail. 2025 May;18(5):e012293. doi: 10.1161/CIRCHEARTFAILURE.124.012293. Epub 2025 Apr 18. Circ Heart Fail. 2025. PMID: 40248873 Free PMC article.
RyR2 and Calcium Release in Heart Failure.
Benitah JP, Perrier R, Mercadier JJ, Pereira L, Gómez AM. Benitah JP, et al. Among authors: perrier r. Front Physiol. 2021 Oct 8;12:734210. doi: 10.3389/fphys.2021.734210. eCollection 2021. Front Physiol. 2021. PMID: 34690808 Free PMC article. Review.
Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.
McCuaig JM, Stockley TL, Shaw P, Fung-Kee-Fung M, Altman AD, Bentley J, Bernardini MQ, Cormier B, Hirte H, Kieser K, MacMillan A, Meschino WS, Panabaker K, Perrier R, Provencher D, Schrader KA, Serfas K, Tomiak E, Wong N, Young SS, Gotlieb WH, Hoskins P, Kim RH; BRCA TtoT Community of Practice. McCuaig JM, et al. Among authors: perrier r. J Med Genet. 2018 Sep;55(9):571-577. doi: 10.1136/jmedgenet-2018-105472. Epub 2018 Jul 24. J Med Genet. 2018. PMID: 30042185 Free PMC article. Review.
Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease.
Bauman BM, Dorjbal B, Pittaluga S, Zhang Y, Niemela JE, Stoddard JL, Rosenzweig SD, Anderson R, Guilcher GMT, Auer I, Perrier R, Campbell M, Bhandal SK, Alba C, Sukumar G, Dalgard CL, Schelotto M, Wright NAM, Su HC, Snow AL. Bauman BM, et al. Among authors: perrier r. Clin Immunol. 2023 Oct;255:109732. doi: 10.1016/j.clim.2023.109732. Epub 2023 Aug 9. Clin Immunol. 2023. PMID: 37562721 Free PMC article.
Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation.
Yin L, Zahradnikova A Jr, Rizzetto R, Boncompagni S, Rabesahala de Meritens C, Zhang Y, Joanne P, Marqués-Sulé E, Aguilar-Sánchez Y, Fernández-Tenorio M, Villejoubert O, Li L, Wang YY, Mateo P, Nicolas V, Gerbaud P, Lai FA, Perrier R, Álvarez JL, Niggli E, Valdivia HH, Valdivia CR, Ramos-Franco J, Zorio E, Zissimopoulos S, Protasi F, Benitah JP, Gómez AM. Yin L, et al. Among authors: perrier r. Circ Res. 2021 Jul 23;129(3):e35-e52. doi: 10.1161/CIRCRESAHA.121.319094. Epub 2021 Jun 11. Circ Res. 2021. PMID: 34111951 Free PMC article.
73 results