Buiting K - Search Results

1

Low frequency of imprinting defects in ICSI children born small for gestational age.

Kanber D, Buiting K, Zeschnigk M, Ludwig M, Horsthemke B. Kanber D, et al. Among authors: buiting k. Eur J Hum Genet. 2009 Jan;17(1):22-9. doi: 10.1038/ejhg.2008.177. Epub 2008 Oct 22. Eur J Hum Genet. 2009. PMID: 18941474 Free PMC article.

2

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.

Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, el-Maarri O, Horsthemke B. Buiting K, et al. Am J Hum Genet. 2003 Mar;72(3):571-7. doi: 10.1086/367926. Epub 2003 Jan 23. Am J Hum Genet. 2003. PMID: 12545427 Free PMC article.

3

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.

Nazlican H, Zeschnigk M, Claussen U, Michel S, Boehringer S, Gillessen-Kaesbach G, Buiting K, Horsthemke B. Nazlican H, et al. Among authors: buiting k. Hum Mol Genet. 2004 Nov 1;13(21):2547-55. doi: 10.1093/hmg/ddh296. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385437

4

Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15.

Zogel C, Böhringer S, Gross S, Varon R, Buiting K, Horsthemke B. Zogel C, et al. Among authors: buiting k. Eur J Hum Genet. 2006 Jun;14(6):752-8. doi: 10.1038/sj.ejhg.5201602. Eur J Hum Genet. 2006. PMID: 16596119

5

IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.

Zeschnigk M, Albrecht B, Buiting K, Kanber D, Eggermann T, Binder G, Gromoll J, Prott EC, Seland S, Horsthemke B. Zeschnigk M, et al. Among authors: buiting k. Eur J Hum Genet. 2008 Mar;16(3):328-34. doi: 10.1038/sj.ejhg.5201974. Epub 2008 Jan 9. Eur J Hum Genet. 2008. PMID: 18159214

6

Genomic imprinting and imprinting defects in humans.

Horsthemke B, Buiting K. Horsthemke B, et al. Among authors: buiting k. Adv Genet. 2008;61:225-46. doi: 10.1016/S0065-2660(07)00008-9. Adv Genet. 2008. PMID: 18282508 Review.

7

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.

Buiting K, Kanber D, Martín-Subero JI, Lieb W, Terhal P, Albrecht B, Purmann S, Gross S, Lich C, Siebert R, Horsthemke B, Gillessen-Kaesbach G. Buiting K, et al. Hum Mutat. 2008 Sep;29(9):1141-6. doi: 10.1002/humu.20771. Hum Mutat. 2008. PMID: 18454453

8

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.

Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke B, Buiting K. Kanber D, et al. Among authors: buiting k. Eur J Hum Genet. 2009 May;17(5):582-90. doi: 10.1038/ejhg.2008.232. Epub 2008 Dec 10. Eur J Hum Genet. 2009. PMID: 19066619 Free PMC article.

9

Imprinting of RB1 (the new kid on the block).

Buiting K, Kanber D, Horsthemke B, Lohmann D. Buiting K, et al. Brief Funct Genomics. 2010 Jul;9(4):347-53. doi: 10.1093/bfgp/elq014. Epub 2010 Jun 15. Brief Funct Genomics. 2010. PMID: 20551090 Review.

10

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.

Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A. Beygo J, et al. Among authors: buiting k. Hum Mol Genet. 2013 Feb 1;22(3):544-57. doi: 10.1093/hmg/dds465. Epub 2012 Oct 30. Hum Mol Genet. 2013. PMID: 23118352 Free PMC article.

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