Gillessen-Kaesbach G - Search Results

1

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.

Runte M, Färber C, Lich C, Zeschnigk M, Buchholz T, Smith A, Van Maldergem L, Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K. Runte M, et al. Eur J Hum Genet. 2001 Jul;9(7):519-26. doi: 10.1038/sj.ejhg.5200661. Eur J Hum Genet. 2001. PMID: 11464243

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

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.

5

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

6

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

7

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.

8

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.

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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