Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2003 1
2004 3
2006 2
2007 1
2008 2
2009 1
2010 5
2011 3
2012 2
2013 2
2014 2
2015 5
2016 8
2017 2
2018 3
2019 1
2020 3
2021 2
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

41 results

Results by year

Filters applied: . Clear all
Page 1
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. Among authors: dieux coeslier a. 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.
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Nappi M, Barrese V, Carotenuto L, Lesca G, Labalme A, Ville D, Smol T, Rama M, Dieux-Coeslier A, Rivier-Ringenbach C, Soldovieri MV, Ambrosino P, Mosca I, Pusch M, Miceli F, Taglialatela M. Nappi M, et al. Among authors: dieux coeslier a. Proc Natl Acad Sci U S A. 2022 Apr 12;119(15):e2116887119. doi: 10.1073/pnas.2116887119. Epub 2022 Apr 4. Proc Natl Acad Sci U S A. 2022. PMID: 35377796 Free PMC article.
A new case of bent bone dysplasia--FGFR2 type and review of the literature.
Stichelbout M, Dieux-Coeslier A, Clouqueur E, Collet C, Petit F. Stichelbout M, et al. Among authors: dieux coeslier a. Am J Med Genet A. 2016 Mar;170(3):785-9. doi: 10.1002/ajmg.a.37473. Epub 2015 Nov 17. Am J Med Genet A. 2016. PMID: 26573129 Review. No abstract available.
Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.
Seidowsky A, Hoffmann M, Glowacki F, Dhaenens CM, Devaux JP, de Sainte Foy CL, Provot F, Gheerbrant JD, Hummel A, Hazzan M, Dracon M, Dieux-Coeslier A, Copin MC, Noël C, Buob D. Seidowsky A, et al. Among authors: dieux coeslier a. Clin Nephrol. 2013 Dec;80(6):456-63. doi: 10.5414/CN107063. Clin Nephrol. 2013. PMID: 22909780 Review.
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.
Severe Phenotype in Patients with Large Deletions of NF1.
Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, Audic F, Dollfus H, Guerrot AM, Lespinasse J, Julia S, Vantyghem MC, Drouard M, Lackmy M, Leheup B, Alembik Y, Lemaire A, Nitschké P, Petit F, Dieux Coeslier A, Mutez E, Taieb A, Fradin M, Capri Y, Nasser H, Ruaud L, Dauriat B, Bourthoumieu S, Geneviève D, Audebert-Bellanger S, Nizon M, Stoeva R, Hickman G, Nicolas G, Mazereeuw-Hautier J, Jannic A, Ferkal S, Parfait B, Vidaud M, Members Of The Nf France Network, Wolkenstein P, Pasmant E. Pacot L, et al. Among authors: dieux coeslier a. Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963. Cancers (Basel). 2021. PMID: 34199217 Free PMC article.
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. Among authors: dieux coeslier a. 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. Among authors: dieux coeslier a. 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.
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
41 results