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Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.
Albaramki J, Dmour H, Shboul M, Bonnard C, Venkatesh B, Odeh R. Albaramki J, et al. Among authors: bonnard c. Turk J Pediatr. 2019;61(1):130-133. doi: 10.24953/turkjped.2019.01.022. Turk J Pediatr. 2019. PMID: 31559735 Free article.
Albaramki J, Dmour H, Shboul M, Bonnard C, Venkatesh B, Odeh R. Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis. ...We describe here an 11-year-old child who was diagnosed w …
Albaramki J, Dmour H, Shboul M, Bonnard C, Venkatesh B, Odeh R. Recessive mutation in GALNT3 causes hyperphosphatemic familial …
Katanin p80 regulates human cortical development by limiting centriole and cilia number.
Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, Partlow JN, Al-Dosari M, Alazami A, Alowain M, Alkuraya FS, Reiter JF, Harris MP, Reversade B, Walsh CA. Hu WF, et al. Among authors: bonnard c. Neuron. 2014 Dec 17;84(6):1240-57. doi: 10.1016/j.neuron.2014.12.017. Neuron. 2014. PMID: 25521379 Free PMC article.
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH. Oud MM, et al. Among authors: bonnard c. Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016. Cilia. 2016. PMID: 27069622 Free PMC article.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J. Xue S, et al. Among authors: bonnard c. Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16. Am J Hum Genet. 2017. PMID: 28318499 Free PMC article.
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P. Windpassinger C, et al. Among authors: bonnard c. Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003. Am J Hum Genet. 2017. PMID: 28886341 Free PMC article.
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A. Bonnard C, et al. Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30. Eur J Med Genet. 2018. PMID: 29605658
149 results