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Page 1
Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8,200 karyotypes.
Puy V, Smires BB, Siffroi JP, Barberet J, Bendayan M, Blagosklonov O, Brugnon F, Cabry-Goubet R, Clarotti MA, Catteau-Jonard S, Chalas C, Chansel-Debordeaux L, Delepine B, Hesters L, Lattès S, Lefeuve F, Luton A, Metzler-Guillemain C, Mirallié S, Mons J, Oancea VG, Rives N, Sermondade N, Tournier A, Vincent-Delorme C, Tachdjian G, Pipiras E, Eustache F. Puy V, et al. Among authors: pipiras e. Fertil Steril. 2024 Oct 31:S0015-0282(24)02339-2. doi: 10.1016/j.fertnstert.2024.10.037. Online ahead of print. Fertil Steril. 2024. PMID: 39486504
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.
Aloui C, Neumann L, Bergametti F, Sartori E, Herbreteau M, Maillard A, Coste T, Morel H, Hervé D, Chabriat H, Timsit S, Viakhireva I, Denoyer Y, Allibert R, Demurger F, Gollion C, Vermersch P, Marchelli F, Blugeon C, Lemoine S, Tourtier-Bellosta C, Brouazin A, Leutenegger AL, Pipiras E, Tournier-Lasserve E. Aloui C, et al. Among authors: pipiras e. JAMA Netw Open. 2024 Apr 1;7(4):e247034. doi: 10.1001/jamanetworkopen.2024.7034. JAMA Netw Open. 2024. PMID: 38630472 Free PMC article.
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Quilichini J, Perol S, Cuisset L, Grotto S, Fouveaut C, Barbot JC, Verebi C, Jordan P, Héron D, Molina-Gomes D, Pipiras E, Grynberg M, Catteau-Jonard S, Touraine P, Christin-Maître S, Plu-Bureau G, El Khattabi L, Bienvenu T. Quilichini J, et al. Among authors: pipiras e. Am J Med Genet A. 2024 Apr;194(4):e63479. doi: 10.1002/ajmg.a.63479. Epub 2023 Nov 21. Am J Med Genet A. 2024. PMID: 37987117
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.
Coudert A, Cazin C, Amiri-Yekta A, Fourati Ben Mustapha S, Zouari R, Bessonat J, Zoghmar A, Clergeau A, Metzler-Guillemain C, Triki C, Lejeune H, Sermondade N, Pipiras E, Prisant N, Cedrin I, Koscinski I, Keskes L, Lestrade F, Hesters L, Rives N, Dorphin B, Guichet A, Patrat C, Dulioust E, Feraille A, Robert F, Brouillet S, Morel F, Perrin A, Rougier N, Bieth E, Sorlin A, Siffroi JP, Ben Khelifa M, Boiterelle F, Hennebicq S, Satre V, Arnoult C, Coutton C, Barbotin AL, Thierry-Mieg N, Kherraf ZE, Ray PF. Coudert A, et al. Among authors: pipiras e. J Genet Genomics. 2023 Jul;50(7):536-540. doi: 10.1016/j.jgg.2023.04.007. Epub 2023 Apr 26. J Genet Genomics. 2023. PMID: 37116580 No abstract available.
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication.
Grangeon L, Cassinari K, Rousseau S, Croisile B, Formaglio M, Moreaud O, Boutonnat J, Le Meur N, Miné M, Coste T, Pipiras E, Tournier-Lasserve E, Rovelet-Lecrux A, Campion D, Wallon D, Nicolas G. Grangeon L, et al. Among authors: pipiras e. Neurol Genet. 2021 Sep 8;7(5):e609. doi: 10.1212/NXG.0000000000000609. eCollection 2021 Oct. Neurol Genet. 2021. PMID: 34532568 Free PMC article.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T. Wagner M, et al. Among authors: pipiras e. Genet Med. 2020 Jun;22(6):1061-1068. doi: 10.1038/s41436-020-0768-7. Epub 2020 Feb 26. Genet Med. 2020. PMID: 32099069 Free article.
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
Aloui C, Guey S, Pipiras E, Kossorotoff M, Guéden S, Corpechot M, Bessou P, Pedespan JM, Husson M, Hervé D, Riant F, Kraemer M, Steffann J, Quenez O, Tournier-Lasserve E. Aloui C, et al. Among authors: pipiras e. J Med Genet. 2020 May;57(5):339-346. doi: 10.1136/jmedgenet-2019-106525. Epub 2020 Jan 10. J Med Genet. 2020. PMID: 31924698
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. Tabet AC, et al. Among authors: pipiras e. NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019. NPJ Genom Med. 2019. PMID: 31285849 Free PMC article.
47 results