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Year Number of Results
1990 4
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1993 8
1994 5
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1997 9
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1999 8
2000 6
2001 8
2002 5
2003 10
2004 8
2005 13
2006 12
2007 8
2008 11
2009 12
2010 20
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2012 16
2013 13
2014 9
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316 results

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Page 1
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Among authors: bienvenu t. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. Claustres M, et al. Among authors: bienvenu t. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S. McKnight D, et al. Among authors: bienvenu t. Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2. Hum Mutat. 2022. PMID: 34837432 Free PMC article.
Rheumatoid arthritis-associated bronchiectasis.
Puéchal X, Bienvenu T, Dusser D. Puéchal X, et al. Among authors: bienvenu t. Lancet. 2019 May 18;393(10185):2035-2036. doi: 10.1016/S0140-6736(19)30020-0. Lancet. 2019. PMID: 31106745 No abstract available.
Frontal sinuses and human evolution.
Balzeau A, Albessard-Ball L, Kubicka AM, Filippo A, Beaudet A, Santos E, Bienvenu T, Arsuaga JL, Bartsiokas A, Berger L, Bermúdez de Castro JM, Brunet M, Carlson KJ, Daura J, Gorgoulis VG, Grine FE, Harvati K, Hawks J, Herries A, Hublin JJ, Hui J, Ives R, Joordens JA, Kaifu Y, Kouloukoussa M, Léger B, Lordkipanidze D, Margvelashvili A, Martin J, Martinón-Torres M, May H, Mounier A, du Plessis A, Rae T, Röding C, Sanz M, Semal P, Stratford D, Stringer C, Tawane M, Temming H, Tsoukala E, Zilhão J, Zipfel B, Buck LT. Balzeau A, et al. Among authors: bienvenu t. Sci Adv. 2022 Oct 21;8(42):eabp9767. doi: 10.1126/sciadv.abp9767. Epub 2022 Oct 21. Sci Adv. 2022. PMID: 36269821 Free PMC article.
The primitive brain of early Homo.
Ponce de León MS, Bienvenu T, Marom A, Engel S, Tafforeau P, Alatorre Warren JL, Lordkipanidze D, Kurniawan I, Murti DB, Suriyanto RA, Koesbardiati T, Zollikofer CPE. Ponce de León MS, et al. Among authors: bienvenu t. Science. 2021 Apr 9;372(6538):165-171. doi: 10.1126/science.aaz0032. Science. 2021. PMID: 33833119
[Genetics of complex and syndromic palmoplantar keratoderma].
Sperelakis-Beedham B, Lopez M, Girodon E, Hickman G, Bourrat E, Bienvenu T. Sperelakis-Beedham B, et al. Among authors: bienvenu t. Ann Biol Clin (Paris). 2021 Dec 1;79(6):551-565. doi: 10.1684/abc.2021.1688. Ann Biol Clin (Paris). 2021. PMID: 34961738 Free article. Review. French.
316 results