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

Year Number of Results
1986 2
1988 1
1990 2
1992 3
1993 1
1994 2
1995 4
1996 1
1997 2
1998 2
1999 4
2000 4
2001 3
2002 4
2003 4
2004 7
2005 7
2006 5
2007 2
2008 6
2009 10
2010 6
2011 3
2012 5
2013 7
2014 4
2015 6
2016 9
2017 1
2018 7
2019 2
2020 3
2021 1
2022 2
2023 1
2024 2

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123 results

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Page 1
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. Mascibroda LG, et al. Among authors: colleaux l. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Among authors: colleaux l. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
The emerging roles of MicroRNAs in autism spectrum disorders.
Fregeac J, Colleaux L, Nguyen LS. Fregeac J, et al. Among authors: colleaux l. Neurosci Biobehav Rev. 2016 Dec;71:729-738. doi: 10.1016/j.neubiorev.2016.10.018. Epub 2016 Oct 25. Neurosci Biobehav Rev. 2016. PMID: 27793596 Review.
Molecular karyotyping in human constitutional cytogenetics.
Sanlaville D, Lapierre JM, Turleau C, Coquin A, Borck G, Colleaux L, Vekemans M, Romana SP. Sanlaville D, et al. Among authors: colleaux l. Eur J Med Genet. 2005 Jul-Sep;48(3):214-31. doi: 10.1016/j.ejmg.2005.04.013. Eur J Med Genet. 2005. PMID: 16179218 Review.
[Neurotrypsin mutations and mental retardation].
Molinari F, Rio M, Munnich A, Colleaux L. Molinari F, et al. Among authors: colleaux l. Med Sci (Paris). 2003 May;19(5):525-7. doi: 10.1051/medsci/2003195525. Med Sci (Paris). 2003. PMID: 12836380 Free article. French. No abstract available.
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V. Nizon M, et al. Among authors: colleaux l. Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425167 Review.
Refining the phenotype associated with CASC5 mutation.
Saadi A, Verny F, Siquier-Pernet K, Bole-Feysot C, Nitschke P, Munnich A, Abada-Dendib M, Chaouch M, Abramowicz M, Colleaux L. Saadi A, et al. Among authors: colleaux l. Neurogenetics. 2016 Jan;17(1):71-8. doi: 10.1007/s10048-015-0468-7. Epub 2015 Dec 1. Neurogenetics. 2016. PMID: 26626498
123 results