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

Year Number of Results
1979 1
1981 2
1984 1
1986 2
1987 1
1988 1
1989 3
1991 1
1992 1
1994 1
1995 1
1996 6
1997 4
1998 4
1999 1
2000 4
2001 1
2002 2
2003 1
2004 3
2006 2
2007 5
2008 3
2009 4
2010 1
2011 4
2012 6
2013 4
2014 6
2015 1
2016 4
2017 2
2019 2
2020 2
2021 2
2024 1

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83 results

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Page 1
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
Bone dysplasias: an introduction.
Azouz EM, Teebi AS, Eydoux P, Chen MF, Fassier F. Azouz EM, et al. Among authors: eydoux p. Can Assoc Radiol J. 1998 Apr;49(2):105-9. Can Assoc Radiol J. 1998. PMID: 9561013 Review.
Renpenning syndrome in a female.
Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S; CAUSES Study; Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A. Cho RY, et al. Among authors: eydoux p. Am J Med Genet A. 2020 Mar;182(3):498-503. doi: 10.1002/ajmg.a.61451. Epub 2019 Dec 16. Am J Med Genet A. 2020. PMID: 31840929
Possible new variant of Nijmegen breakage syndrome.
Der Kaloustian VM, Kleijer W, Booth A, Auerbach AD, Mazer B, Elliott AM, Abish S, Usher R, Watters G, Vekemans M, Eydoux P. Der Kaloustian VM, et al. Among authors: eydoux p. Am J Med Genet. 1996 Oct 2;65(1):21-6. doi: 10.1002/(SICI)1096-8628(19961002)65:1<21::AID-AJMG3>3.0.CO;2-0. Am J Med Genet. 1996. PMID: 8914736 Review.
Mutations in EZH2 cause Weaver syndrome.
Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium; Chitayat D, Boycott KM, Weaver DD, Jones SJ. Gibson WT, et al. Among authors: eydoux p. Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177091 Free PMC article.
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT. Cohen AS, et al. Among authors: eydoux p. Am J Med Genet A. 2014 Sep;164A(9):2360-4. doi: 10.1002/ajmg.a.36622. Epub 2014 Jun 5. Am J Med Genet A. 2014. PMID: 24903541 Free article.
Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD. Tarailo-Graovac M, et al. Among authors: eydoux p. N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25. N Engl J Med. 2016. PMID: 27276562 Free PMC article.
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study; Suri M, Elmslie F; Deciphering Developmental Disorders Study; Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ. Guella I, et al. Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004. Am J Hum Genet. 2017. PMID: 28777935 Free PMC article.
The Eμ-Ret mouse is a novel model of hyperdiploid B-cell acute lymphoblastic leukemia.
Farrokhi A, Atre T, Rever J, Fidanza M, Duey W, Salitra S, Myung J, Guo M, Jo S, Uzozie A, Baharvand F, Rolf N, Auer F, Hauer J, Grupp SA, Eydoux P, Lange PF, Seif AE, Maxwell CA, Reid GSD. Farrokhi A, et al. Among authors: eydoux p. Leukemia. 2024 May;38(5):969-980. doi: 10.1038/s41375-024-02221-x. Epub 2024 Mar 22. Leukemia. 2024. PMID: 38519798 Free PMC article.
83 results