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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1997 1
1998 1
2003 1
2004 2
2006 3
2007 4
2008 2
2009 3
2010 2
2011 2
2012 6
2013 1
2014 5
2015 4
2016 2
2017 2
2018 3
2019 2
2020 5
2021 1
2022 0
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42 results
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Page 1
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. Among authors: pipiras e. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593
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.
EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.
Lévy J, Haye D, Marziliano N, Casu G, Guimiot F, Dupont C, Teissier N, Benzacken B, Gressens P, Pipiras E, Verloes A, Tabet AC. Lévy J, et al. Among authors: pipiras e. Clin Genet. 2018 Jun;93(6):1141-1147. doi: 10.1111/cge.13234. Epub 2018 Mar 15. Clin Genet. 2018. PMID: 29508392
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
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.
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Lévy J, Coussement A, Dupont C, Guimiot F, Baumann C, Viot G, Passemard S, Capri Y, Drunat S, Verloes A, Pipiras E, Benzacken B, Dupont JM, Tabet AC. Lévy J, et al. Among authors: pipiras e. Am J Med Genet A. 2017 Aug;173(8):2081-2087. doi: 10.1002/ajmg.a.38302. Epub 2017 Jun 1. Am J Med Genet A. 2017. PMID: 28573701
[Detection of delta F508 mutation in cystic fibrosis].
Fekete G, Váradi A, Pipiras E, Németh K, Réthy LA, Holics K, Ujhelyi R. Fekete G, et al. Among authors: pipiras e. Orv Hetil. 1992 Sep 20;133(38):2423-4, 2427-30. Orv Hetil. 1992. PMID: 1408077 Review. Hungarian.
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A. El Khattabi L, et al. Among authors: pipiras e. Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847481 Free article. Review.
42 results