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Page 1
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.
Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X. Zak J, et al. Cell Death Differ. 2016 Dec;23(12):1973-1984. doi: 10.1038/cdd.2016.76. Epub 2016 Jul 22. Cell Death Differ. 2016. PMID: 27447114 Free PMC article.
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Lüdecke HJ, Suri M, Carignani G, Renieri A, Kukuk GM, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coëslier A, Zink AM. Dennert N, et al. Am J Med Genet A. 2017 Feb;173(2):435-443. doi: 10.1002/ajmg.a.38034. Epub 2016 Nov 14. Am J Med Genet A. 2017. PMID: 27862890 Review.
Crane-Heise syndrome: two further case reports.
Petit F, Devisme L, Toutain A, Houfflin-Debarge V, Dieux-Coeslier A, Manouvrier-Hanu S, Andrieux J, Holder-Espinasse M. Petit F, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):169-72. doi: 10.1016/j.ejmg.2010.11.004. Epub 2010 Nov 20. Eur J Med Genet. 2011. PMID: 21094705
What can we learn from old microdeletion syndromes using array-CGH screening?
Mosca-Boidron AL, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent-Delorme C, Berri M, Plessis G, Manouvrier-Hanu S, Dieux-Coeslier A, Thauvin-Robinet C, Pipiras E, Delahaye A, Payet M, Ragon C, Masurel-Paulet A, Questiaux E, Benzacken B, Jonveaux P, Mugneret F, Holder-Espinasse M. Mosca-Boidron AL, et al. Clin Genet. 2012 Jul;82(1):41-7. doi: 10.1111/j.1399-0004.2011.01747.x. Epub 2011 Jul 26. Clin Genet. 2012. PMID: 21722100
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Wolfe K, McQuillin A, Alesi V, Boudry Labis E, Cutajar P, Dallapiccola B, Dentici ML, Dieux-Coeslier A, Duban-Bedu B, Duelund Hjortshøj T, Goel H, Loddo S, Morrogh D, Mosca-Boidron AL, Novelli A, Olivier-Faivre L, Parker J, Parker MJ, Patch C, Pelling AL, Smol T, Tümer Z, Vanakker O, van Haeringen A, Vanlerberghe C, Strydom A, Skuse D, Bass N. Wolfe K, et al. Among authors: dieux coeslier a. Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):397-405. doi: 10.1002/ajmg.b.32627. Epub 2018 Mar 31. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29603867 Free PMC article.
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M. Schanze D, et al. Hum Mutat. 2014 Sep;35(9):1092-100. doi: 10.1002/humu.22603. Epub 2014 Jul 8. Hum Mutat. 2014. PMID: 24924640
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Calpena E, McGowan SJ, Blanco Kelly F, Boudry-Labis E, Dieux-Coeslier A, Harrison R, Johnson D, Lachlan K, Morton JEV, Stewart H, Vasudevan P; Genomics England Research Consortium; Twigg SRF, Wilkie AOM. Calpena E, et al. Among authors: dieux coeslier a. Hum Mutat. 2021 Jul;42(7):811-817. doi: 10.1002/humu.24213. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33993607
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Smol T, Thuillier C, Boudry-Labis E, Dieux-Coeslier A, Duban-Bedu B, Caumes R, Bouquillon S, Manouvrier-Hanu S, Roche-Lestienne C, Ghoumid J. Smol T, et al. Among authors: dieux coeslier a. Neurogenetics. 2020 Jan;21(1):67-72. doi: 10.1007/s10048-019-00599-w. Epub 2019 Dec 10. Neurogenetics. 2020. PMID: 31823155
Imaging features of lower limb malformations above the foot.
Bergère A, Amzallag-Bellenger E, Lefebvre G, Dieux-Coeslier A, Mezel A, Herbaux B, Boutry N. Bergère A, et al. Diagn Interv Imaging. 2015 Sep;96(9):901-14. doi: 10.1016/j.diii.2014.08.008. Epub 2015 Apr 24. Diagn Interv Imaging. 2015. PMID: 25920687 Free article. Review.
42 results