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

Year Number of Results
1963 1
1974 2
1976 1
1979 2
1980 2
1981 3
1982 4
1983 6
1984 3
1985 3
1986 3
1987 5
1988 4
1989 1
1990 7
1991 8
1992 8
1993 4
1994 3
1995 4
1996 2
1997 5
1998 11
1999 12
2000 9
2001 9
2002 11
2003 6
2004 8
2005 10
2006 3
2007 5
2008 10
2009 4
2010 4
2011 11
2012 10
2013 7
2014 7
2015 7
2016 4
2017 5
2018 9
2019 4
2020 4
2021 3
2022 2
2023 2
2024 1

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245 results

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Page 1
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. Among authors: chudley ae. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738
Ritscher-Schinzel Syndrome.
Elliott AM, Chudley A. Elliott AM, et al. Among authors: chudley a. 2020 Jan 23. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2020 Jan 23. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31971710 Free Books & Documents. Review.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: chudley ae. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
Orthopaedic Aspects of SAMS Syndrome.
Schrander DE, Staal HM, Johnson CA, Calder A, Ghali N, Chudley AE, Stumpel CTRM. Schrander DE, et al. Among authors: chudley ae. J Pediatr Genet. 2020 Jul 29;11(1):51-58. doi: 10.1055/s-0040-1714700. eCollection 2022 Mar. J Pediatr Genet. 2020. PMID: 35186391 Free PMC article.
Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability.
Lee YR, Thomas MG, Roychaudhury A, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Choi TI, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Chudley AE, Schwartz CE, Kim CH. Lee YR, et al. Among authors: chudley ae. Res Sq [Preprint]. 2023 Mar 20:rs.3.rs-2683050. doi: 10.21203/rs.3.rs-2683050/v1. Res Sq. 2023. PMID: 36993381 Free PMC article. Preprint.
Fragile X syndrome.
Chudley AE, Hagerman RJ. Chudley AE, et al. J Pediatr. 1987 Jun;110(6):821-31. doi: 10.1016/s0022-3476(87)80392-x. J Pediatr. 1987. PMID: 3295158 Review. No abstract available.
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M; FORGE Canada Consortium; Triggs-Raine B, Zelinski T. Doherty D, et al. Among authors: chudley ae. Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10. Am J Hum Genet. 2012. PMID: 22578326 Free PMC article.
Fetal alcohol spectrum disorder: a guideline for diagnosis across the lifespan.
Cook JL, Green CR, Lilley CM, Anderson SM, Baldwin ME, Chudley AE, Conry JL, LeBlanc N, Loock CA, Lutke J, Mallon BF, McFarlane AA, Temple VK, Rosales T; Canada Fetal Alcohol Spectrum Disorder Research Network. Cook JL, et al. Among authors: chudley ae. CMAJ. 2016 Feb 16;188(3):191-197. doi: 10.1503/cmaj.141593. Epub 2015 Dec 14. CMAJ. 2016. PMID: 26668194 Free PMC article. Review. No abstract available.
A global research collaboration on fetal alcohol spectrum disorder.
Medwick H, Chudley AE; team members of the Canada–Israel International Fetal Alcohol Consortium *. Medwick H, et al. Among authors: chudley ae. Biochem Cell Biol. 2018 Apr;96(2):vii-viii. doi: 10.1139/bcb-2018-0088. Epub 2018 Apr 10. Biochem Cell Biol. 2018. PMID: 29634353 No abstract available.
245 results