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Page 1
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, Itani O, Böhme AL, Tibbe D, Hönck HH, Hassani Nia F; Undiagnosed Diseases Network; Zech M, Brunet T, Faivre L, Sorlin A, Vitobello A, Smol T, Colson C, Baranano K, Schatz K, Bayat A, Schoch K, Spillmann R, Davis EE, Conboy E, Vetrini F, Platzer K, Neuser S, Gburek-Augustat J, Grace AN, Mitchell B, Stegmann A, Sinnema M, Meeks N, Saunders C, Cadieux-Dion M, Hoyer J, Van-Gils J, de Sainte-Agathe JM, Thompson ML, Bebin EM, Weisz-Hubshman M, Tabet AC, Verloes A, Levy J, Latypova X, Harder S, Silverman GA, Pak SC, Schedl T, Freson K, Mumford A, Turro E, Schlein C, Shashi V, Kreienkamp HJ. Willim J, et al. Among authors: tabet ac. Nat Commun. 2024 Sep 10;15(1):7909. doi: 10.1038/s41467-024-52095-x. Nat Commun. 2024. PMID: 39256359 Free PMC article.
Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility.
M'kacher R, Colicchio B, Marquet V, Borie C, Najar W, Hempel WM, Heidingsfelder L, Oudrhiri N, Al Jawhari M, Wilhelm-Murer N, Miguet M, Dieterlen A, Deschênes G, Tabet AC, Junker S, Grynberg M, Fenech M, Bennaceur-Griscelli A, Voisin P, Carde P, Jeandidier E, Yardin C. M'kacher R, et al. Among authors: tabet ac. Fertil Steril. 2021 Jan;115(1):164-173. doi: 10.1016/j.fertnstert.2020.07.005. Epub 2020 Dec 4. Fertil Steril. 2021. PMID: 33272625 Free article.
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J. Fiot E, et al. Among authors: tabet ac. Orphanet J Rare Dis. 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. Orphanet J Rare Dis. 2022. PMID: 35821070 Free PMC article.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: tabet ac. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 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: tabet ac. 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
LEF1 haploinsufficiency causes ectodermal dysplasia.
Lévy J, Capri Y, Rachid M, Dupont C, Vermeesch JR, Devriendt K, Verloes A, Tabet AC, Bailleul-Forestier I. Lévy J, et al. Among authors: tabet ac. Clin Genet. 2020 Apr;97(4):595-600. doi: 10.1111/cge.13714. Epub 2020 Feb 17. Clin Genet. 2020. PMID: 32022899
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, Walia J, Immken LL, Stankiewicz P, McWalter K, Suchy S, Louie RJ, Bell S, Stevenson RE, Rousseau J, Willem C, Retiere C, Yang XJ, Campeau PM, Martinez F, Rosenfeld JA, Le Caignec C, Küry S, Mercier S, Moradkhani K, Conrad S, Besnard T, Cogné B, Katsanis N, Bézieau S, Poschmann J, Davis EE, Isidor B. Latypova X, et al. Among authors: tabet ac. Am J Hum Genet. 2021 May 6;108(5):929-941. doi: 10.1016/j.ajhg.2021.03.017. Epub 2021 Apr 2. Am J Hum Genet. 2021. PMID: 33811806 Free PMC article.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P, Faivre L, Marle N, Engwerda A, van Ravenswaaij-Arts CMA, Plutino M, Karmous-Benailly H, Benech C, Redon S, Boute O, Boudry Labis E, Rama M, Kuentz P, Assoumani J, Maldergem LV, Dupont C, Verloes A, Tabet AC. Lévy J, et al. Among authors: tabet ac. Clin Genet. 2021 Oct;100(4):396-404. doi: 10.1111/cge.14017. Epub 2021 Jul 1. Clin Genet. 2021. PMID: 34176129
79 results