Gillessen-Kaesbach G - Search Results

1

A rapid microarray based whole genome analysis for detection of uniparental disomy.

Altug-Teber O, Dufke A, Poths S, Mau-Holzmann UA, Bastepe M, Colleaux L, Cormier-Daire V, Eggermann T, Gillessen-Kaesbach G, Bonin M, Riess O. Altug-Teber O, et al. Hum Mutat. 2005 Aug;26(2):153-9. doi: 10.1002/humu.20198. Hum Mutat. 2005. PMID: 15968682

2

Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR.

Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann UA, Prott EC, Wieczorek D, Gillessen-Kaesbach G. Mitter D, et al. Am J Med Genet A. 2006 Oct 1;140(19):2039-49. doi: 10.1002/ajmg.a.31414. Am J Med Genet A. 2006. PMID: 16906536

3

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

4

Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.

Horsthemke B, Nazlican H, Hüsing J, Klein-Hitpass L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K. Horsthemke B, et al. Hum Mol Genet. 2003 Oct 15;12(20):2723-32. doi: 10.1093/hmg/ddg291. Epub 2003 Aug 27. Hum Mol Genet. 2003. PMID: 12944418

5

Molecular and clinical studies in 8 patients with Temple syndrome.

Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J. Gillessen-Kaesbach G, et al. Clin Genet. 2018 Jun;93(6):1179-1188. doi: 10.1111/cge.13244. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29468661

6

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P. Eggermann T, et al. Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508573 Free PMC article. Review.

7

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.

Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. Wieczorek D, et al. Eur J Hum Genet. 2000 Jul;8(7):519-26. doi: 10.1038/sj.ejhg.5200498. Eur J Hum Genet. 2000. PMID: 10909852

8

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.

Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K. Beygo J, et al. Eur J Hum Genet. 2017 Aug;25(8):935-945. doi: 10.1038/ejhg.2017.91. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635951 Free PMC article.

9

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B. Dittrich B, et al. Hum Genet. 1992 Nov;90(3):313-5. doi: 10.1007/BF00220089. Hum Genet. 1992. PMID: 1487250

10

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.

Beygo J, Mertel C, Kaya S, Gillessen-Kaesbach G, Eggermann T, Horsthemke B, Buiting K. Beygo J, et al. Epigenetics. 2018;13(8):822-828. doi: 10.1080/15592294.2018.1514233. Epub 2018 Sep 19. Epigenetics. 2018. PMID: 30227764 Free PMC article.

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