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Page 1
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Aerden M, et al. Among authors: philippe c, philippe a. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747006 Free PMC article.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White SM, Gallacher L, Kutsche K, Schneeberger P, Girisha KM, Nayak SS, Pais L, Maroofian R, Rad A, Vona B, Karimiani EG, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M. Ziegler A, et al. Among authors: philippe a. Am J Hum Genet. 2021 Jun 3;108(6):1126-1137. doi: 10.1016/j.ajhg.2021.04.020. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010604 Free PMC article.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Fergelot P, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P, Nicolas G. Coursimault J, et al. Among authors: philippe a. Hum Mutat. 2022 Dec;43(12):1882-1897. doi: 10.1002/humu.24438. Epub 2022 Jul 23. Hum Mutat. 2022. PMID: 35842780
The mitochondrial orf117Sha gene desynchronizes pollen development and causes pollen abortion in the Arabidopsis Sha CMS.
Noémie D, Clément B, Philippe A, Delphine C, Dennis B, Taillefer Clémence G, Thomas N, Anthony R, Matthieu S, Joseph T, Daniel V, Christine C, Shin-Ichi A, Markus S, Françoise B. Noémie D, et al. Among authors: philippe a. J Exp Bot. 2024 May 11:erae214. doi: 10.1093/jxb/erae214. Online ahead of print. J Exp Bot. 2024. PMID: 38733289
Intensive receptor blockade and plasma exchange to treat refractory scleroderma renal crisis in patients with agonistic autoantibodies targeting the angiotensin II type 1 and endothelin-1 type A receptors.
Hegner B, Callaghan J, Schindler R, Heidecke H, Riemekasten G, Philippe A, Catar R. Hegner B, et al. Among authors: philippe a. J Scleroderma Relat Disord. 2024 Feb;9(1):NP1-NP6. doi: 10.1177/23971983231168193. Epub 2023 Apr 30. J Scleroderma Relat Disord. 2024. PMID: 38333524
Aging of nanosized titanium dioxide modulates the effects of dietary copper exposure on Daphnia magna - an assessment over two generations.
Roy R, Kempter L, Philippe A, Bollinger E, Grünling L, Sivagnanam M, Meyer F, Feckler A, Seitz F, Schulz R, Bundschuh M. Roy R, et al. Among authors: philippe a. Ecotoxicol Environ Saf. 2024 Mar 1;272:116031. doi: 10.1016/j.ecoenv.2024.116031. Epub 2024 Feb 2. Ecotoxicol Environ Saf. 2024. PMID: 38309236 Free article.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, Zein LE, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Le… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2024 Jan 6;16(1):6. doi: 10.1186/s13073-023-01278-0. Genome Med. 2024. PMID: 38184654 Free PMC article. No abstract available.
UV filters in everyday cosmetic products, a comparative study.
Couteau C, Philippe A, Galharret JM, Metay E, Coiffard L. Couteau C, et al. Among authors: philippe a. Environ Sci Pollut Res Int. 2024 Jan;31(2):2976-2986. doi: 10.1007/s11356-023-31330-w. Epub 2023 Dec 11. Environ Sci Pollut Res Int. 2024. PMID: 38079041
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