Bonnard C - Search Results

1

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

Bonnard C, Navaratnam N, Ghosh K, Chan PW, Tan TT, Pomp O, Ng AYJ, Tohari S, Changede R, Carling D, Venkatesh B, Altunoglu U, Kayserili H, Reversade B. Bonnard C, et al. J Exp Med. 2020 Dec 7;217(12):e20191561. doi: 10.1084/jem.20191561. J Exp Med. 2020. PMID: 32845958 Free PMC article.

2

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Güran T, Kayserili H, Hamamy H, Reversade B. Bonnard C, et al. Nat Genet. 2012 May 13;44(6):709-13. doi: 10.1038/ng.2259. Nat Genet. 2012. PMID: 22581230

3

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.

4

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Ng CK, Shboul M, Taverniti V, Bonnard C, Lee H, Eskin A, Nelson SF, Al-Raqad M, Altawalbeh S, Séraphin B, Reversade B. Ng CK, et al. Among authors: bonnard c. Hum Mol Genet. 2015 Jun 1;24(11):3163-71. doi: 10.1093/hmg/ddv067. Epub 2015 Feb 24. Hum Mol Genet. 2015. PMID: 25712129 Free PMC article.

5

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Kariminejad A, Nafissi S, Nilipoor Y, Tavasoli A, Van Veldhoven PP, Bonnard C, Ng YT, Majoie CB, Reversade B, Hennekam RC. Kariminejad A, et al. Among authors: bonnard c. Am J Med Genet A. 2015 Nov;167A(11):2508-15. doi: 10.1002/ajmg.a.37248. Epub 2015 Jul 20. Am J Med Genet A. 2015. PMID: 26192890

6

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

Tafakhori A, Yu Jin Ng A, Tohari S, Venkatesh B, Lee H, Eskin A, Nelson SF, Bonnard C, Reversade B, Kariminejad A. Tafakhori A, et al. Among authors: bonnard c. Arch Iran Med. 2016 Feb;19(2):87-91. Arch Iran Med. 2016. PMID: 26838077

7

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.

8

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization.

Cain CJ, Gaborit N, Lwin W, Barruet E, Ho S, Bonnard C, Hamamy H, Shboul M, Reversade B, Kayserili H, Bruneau BG, Hsiao EC. Cain CJ, et al. Among authors: bonnard c. Bone Rep. 2016 Apr 13;5:86-95. doi: 10.1016/j.bonr.2016.02.005. eCollection 2016 Dec. Bone Rep. 2016. PMID: 27453922 Free PMC article.

9

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

Zhong FL, Mamaï O, Sborgi L, Boussofara L, Hopkins R, Robinson K, Szeverényi I, Takeichi T, Balaji R, Lau A, Tye H, Roy K, Bonnard C, Ahl PJ, Jones LA, Baker PJ, Lacina L, Otsuka A, Fournie PR, Malecaze F, Lane EB, Akiyama M, Kabashima K, Connolly JE, Masters SL, Soler VJ, Omar SS, McGrath JA, Nedelcu R, Gribaa M, Denguezli M, Saad A, Hiller S, Reversade B. Zhong FL, et al. Among authors: bonnard c. Cell. 2016 Sep 22;167(1):187-202.e17. doi: 10.1016/j.cell.2016.09.001. Cell. 2016. PMID: 27662089 Free article.

10

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. Gordon CT, et al. Among authors: bonnard c. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067911 Free article.

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