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Year Number of Results
2008 1
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2010 2
2012 1
2013 2
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2018 1
2019 1
2021 2
2022 2
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Page 1
Congenital Microcoria: Clinical Features and Molecular Genetics.
Angée C, Nedelec B, Erjavec E, Rozet JM, Fares Taie L. Angée C, et al. Among authors: fares taie l. Genes (Basel). 2021 Apr 22;12(5):624. doi: 10.3390/genes12050624. Genes (Basel). 2021. PMID: 33922078 Free PMC article. Review.
Expanding the KIF4A-associated phenotype.
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Kalantari S, et al. Among authors: fares taie l. Am J Med Genet A. 2021 Dec;185(12):3728-3739. doi: 10.1002/ajmg.a.62443. Epub 2021 Aug 3. Am J Med Genet A. 2021. PMID: 34346154 Free PMC article.
Implication of non-coding PAX6 mutations in aniridia.
Plaisancié J, Tarilonte M, Ramos P, Jeanton-Scaramouche C, Gaston V, Dollfus H, Aguilera D, Kaplan J, Fares-Taie L, Blanco-Kelly F, Villaverde C, Francannet C, Goldenberg A, Arroyo I, Rozet JM, Ayuso C, Chassaing N, Calvas P, Corton M. Plaisancié J, et al. Among authors: fares taie l. Hum Genet. 2018 Oct;137(10):831-846. doi: 10.1007/s00439-018-1940-x. Epub 2018 Oct 5. Hum Genet. 2018. PMID: 30291432
Incomplete penetrance of biallelic ALDH1A3 mutations.
Plaisancié J, Brémond-Gignac D, Demeer B, Gaston V, Verloes A, Fares-Taie L, Gerber S, Rozet JM, Calvas P, Chassaing N. Plaisancié J, et al. Among authors: fares taie l. Eur J Med Genet. 2016 Apr;59(4):215-8. doi: 10.1016/j.ejmg.2016.02.004. Epub 2016 Feb 10. Eur J Med Genet. 2016. PMID: 26873617
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K, Iwai M, Tanaka T, Nakamura Y, Kimura W, Bole-Feysot C, Vilotte M, Odent S, Vilotte JL, Munnich A, Regnier A, Chassaing N, De Baere E, Raymond-Letron I, Kaplan J, Calvas P, Roche O, Rozet JM. Fares-Taie L, et al. Am J Hum Genet. 2015 Apr 2;96(4):631-9. doi: 10.1016/j.ajhg.2015.01.014. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772937 Free PMC article.
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, Attie-Bitach T, Miguet M, Delous M, Ernest S, Plaisancié J, Calvas P, Rozet JM, Khan AO, Hamdan FF, Jamieson RV, Alkuraya FS, Michaud JL, Chassaing N. Bouasker S, et al. Among authors: fares taie l. J Med Genet. 2023 Mar;60(3):294-300. doi: 10.1136/jmedgenet-2022-108475. Epub 2022 Jul 5. J Med Genet. 2023. PMID: 35790350
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM. Fares-Taie L, et al. Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9. Am J Hum Genet. 2013. PMID: 23312594 Free PMC article.
19 results