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

Year Number of Results
2005 2
2006 1
2007 3
2008 3
2009 1
2010 2
2011 3
2012 1
2013 1
2014 2
2015 2
2017 1
2018 1
2020 1
2021 3
2022 2
2024 0

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26 results

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Page 1
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Among authors: chaabouni m. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Uğurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: chaabouni m. Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi: 10.1016/j.ajhg.2021.05.003. Epub 2021 May 25. Am J Hum Genet. 2021. PMID: 34038740 Free PMC article.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Çïmen DU, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Nguyen Ly TT, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: chaabouni m. Am J Hum Genet. 2021 Jul 1;108(7):1356. doi: 10.1016/j.ajhg.2021.06.009. Am J Hum Genet. 2021. PMID: 34214448 Free PMC article. No abstract available.
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N, Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB, Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H, Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C, Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C, Kherraf ZE, Coutton C, Ray PF. Celse T, et al. Among authors: chaabouni m. Hum Genet. 2021 Jan;140(1):43-57. doi: 10.1007/s00439-020-02229-0. Epub 2020 Oct 27. Hum Genet. 2021. PMID: 33108537
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Vetro A, et al. Among authors: chaabouni m. Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351776 Free PMC article.
De novo trisomy 20p of paternal origin.
Chaabouni M, Turleau C, Karboul L, Jemaa LB, Maazoul F, Attié-Bitach T, Romana S, Chaabouni H. Chaabouni M, et al. Am J Med Genet A. 2007 May 15;143A(10):1100-3. doi: 10.1002/ajmg.a.31704. Am J Med Genet A. 2007. PMID: 17431912
26 results