Gillessen-Kaesbach G - Search Results

1

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B. Reis A, et al. Am J Hum Genet. 1994 May;54(5):741-7. Am J Hum Genet. 1994. PMID: 8178815 Free PMC article.

2

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.

Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Horsthemke B, Buiting K. Runte M, et al. Hum Genet. 2004 May;114(6):553-61. doi: 10.1007/s00439-004-1104-z. Epub 2004 Mar 10. Hum Genet. 2004. PMID: 15014980

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. 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

Clinical utility gene card for: Prader-Willi Syndrome.

Buiting K, Cassidy SB, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Tauber M, Schwinger E, Horsthemke B. Buiting K, et al. Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.66. Epub 2014 Apr 16. Eur J Hum Genet. 2014. PMID: 24736734 Free PMC article. No abstract available.

5

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.

6

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

7

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

8

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.

Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B. Gillessen-Kaesbach G, et al. J Med Genet. 1995 Feb;32(2):88-92. doi: 10.1136/jmg.32.2.88. J Med Genet. 1995. PMID: 7760327 Free PMC article.

9

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.

Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E, Horsthemke B. Gillessen-Kaesbach G, et al. Hum Genet. 1995 Dec;96(6):638-43. doi: 10.1007/BF00210291. Hum Genet. 1995. PMID: 8522319

10

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

Horsthemke B, Maat-Kievit A, Sleegers E, van den Ouweland A, Buiting K, Lich C, Mollevanger P, Beverstock G, Gillessen-Kaesbach G, Schwanitz G. Horsthemke B, et al. J Med Genet. 1996 Oct;33(10):848-51. doi: 10.1136/jmg.33.10.848. J Med Genet. 1996. PMID: 8933339 Free PMC article.

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