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

Year Number of Results
1988 1
1990 1
1992 3
1993 5
1994 3
1995 1
1996 6
1997 8
1998 5
1999 7
2000 6
2001 7
2003 5
2004 5
2005 1
2006 3
2007 6
2008 10
2009 6
2010 10
2011 4
2012 6
2013 7
2014 10
2015 9
2016 8
2017 3
2018 6
2019 3
2020 1
2021 0
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139 results
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Page 1
Angelman syndrome - insights into a rare neurogenetic disorder.
Buiting K, Williams C, Horsthemke B. Buiting K, et al. Nat Rev Neurol. 2016 Oct;12(10):584-93. doi: 10.1038/nrneurol.2016.133. Epub 2016 Sep 12. Nat Rev Neurol. 2016. PMID: 27615419 Review.
Mosaicism and uniparental disomy in prenatal diagnosis.
Eggermann T, Soellner L, Buiting K, Kotzot D. Eggermann T, et al. Among authors: buiting k. Trends Mol Med. 2015 Feb;21(2):77-87. doi: 10.1016/j.molmed.2014.11.010. Epub 2014 Dec 2. Trends Mol Med. 2015. PMID: 25547535 Review.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG. Begemann M, et al. Among authors: buiting k. J Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190. Epub 2018 Mar 24. J Med Genet. 2018. PMID: 29574422 Free PMC article.
Prader-Willi syndrome and Angelman syndrome.
Buiting K. Buiting K. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):365-76. doi: 10.1002/ajmg.c.30273. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803659 Review.
Multilocus methylation defects in imprinting disorders.
Mackay DJ, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, de Nanclares GP. Mackay DJ, et al. Among authors: buiting k. Biomol Concepts. 2015 Mar;6(1):47-57. doi: 10.1515/bmc-2014-0037. Biomol Concepts. 2015. PMID: 25581766 Review.
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.
Beygo J, Buiting K, Ramsden SC, Ellis R, Clayton-Smith J, Kanber D. Beygo J, et al. Among authors: buiting k. Eur J Hum Genet. 2019 Sep;27(9):1326-1340. doi: 10.1038/s41431-019-0435-0. Epub 2019 Jun 24. Eur J Hum Genet. 2019. PMID: 31235867 Free PMC article.
Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15.
Beygo J, Grosser C, Kaya S, Mertel C, Buiting K, Horsthemke B. Beygo J, et al. Among authors: buiting k. Eur J Hum Genet. 2020 Jun;28(6):835-839. doi: 10.1038/s41431-020-0595-y. Epub 2020 Mar 9. Eur J Hum Genet. 2020. PMID: 32152487 Free PMC article.
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.
Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z; Nomenclature group of the European Network for Human Congenital Imprinting Disorders. Monk D, et al. Among authors: buiting k. Epigenetics. 2018;13(2):117-121. doi: 10.1080/15592294.2016.1264561. Epub 2018 Jan 25. Epigenetics. 2018. PMID: 27911167 Free PMC article. Review.
Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.
Beygo J, Bürger J, Strom TM, Kaya S, Buiting K. Beygo J, et al. Among authors: buiting k. Eur J Hum Genet. 2019 Jun;27(6):903-908. doi: 10.1038/s41431-019-0365-x. Epub 2019 Feb 18. Eur J Hum Genet. 2019. PMID: 30778172 Free PMC article. Clinical Trial.
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.
Munteanu M, Kiewert C, Matar N, Hauffa BP, Unger N, Hiort O, Thiele S, Buiting K, Bramswig NC, Grasemann C. Munteanu M, et al. Among authors: buiting k. J Endocr Soc. 2019 May 20;3(7):1383-1389. doi: 10.1210/js.2019-00073. eCollection 2019 Jul 1. J Endocr Soc. 2019. PMID: 31286103 Free PMC article.
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