Horsthemke B - Search Results

1

Problems in detecting mosaic DNA methylation in Angelman syndrome.

Horsthemke B, Lich C, Buiting K, Achmann R, Aulehla-Scholz C, Baumer A, Bürger J, Dworniczak B, Gläser D, Holinski-Feder E, Janssen B, Kleinle S, Kochhan L, Krasemann E, Kraus C, Kroisel P, Plendl H, Purmann S, Sander G, Skladny H, Spitzer E, Thamm-Mücke B, Varon-Mateeva R, Weinhäusel A, Weirich H. Horsthemke B, et al. Eur J Hum Genet. 2003 Dec;11(12):913-5. doi: 10.1038/sj.ejhg.5201078. Eur J Hum Genet. 2003. PMID: 14523374 No abstract available.

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. Among authors: horsthemke b. 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

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.

Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B. Zeschnigk M, et al. Among authors: horsthemke b. Eur J Hum Genet. 1997 Mar-Apr;5(2):94-8. Eur J Hum Genet. 1997. PMID: 9195159

4

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp.

Buiting K, Lich C, Cottrell S, Barnicoat A, Horsthemke B. Buiting K, et al. Among authors: horsthemke b. Hum Genet. 1999 Dec;105(6):665-6. doi: 10.1007/s004399900196. Hum Genet. 1999. PMID: 10647904

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. Among authors: horsthemke b. 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

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A. Wey E, et al. Among authors: horsthemke b. Eur J Hum Genet. 2005 Mar;13(3):273-7. doi: 10.1038/sj.ejhg.5201337. Eur J Hum Genet. 2005. PMID: 15578038

7

Clinical utility gene card for: Angelman Syndrome.

Buiting K, Clayton-Smith J, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Schwinger E, Williams C, Horsthemke B. Buiting K, et al. Among authors: horsthemke b. Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4. Eur J Hum Genet. 2015. PMID: 24896151 Free PMC article. No abstract available.

8

PW71 methylation test for Prader-Willi and Angelman syndromes.

Dittrich B, Buiting K, Horsthemke B. Dittrich B, et al. Among authors: horsthemke b. Am J Med Genet. 1996 Jan 11;61(2):196-7. doi: 10.1002/ajmg.1320610206. Am J Med Genet. 1996. PMID: 8669455 No abstract available.

9

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

Bürger J, Buiting K, Dittrich B, Gross S, Lich C, Sperling K, Horsthemke B, Reis A. Bürger J, et al. Among authors: horsthemke b. Am J Hum Genet. 1997 Jul;61(1):88-93. doi: 10.1086/513900. Am J Hum Genet. 1997. PMID: 9245988 Free PMC article.

10

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.

Färber C, Dittrich B, Buiting K, Horsthemke B. Färber C, et al. Among authors: horsthemke b. Hum Mol Genet. 1999 Feb;8(2):337-43. doi: 10.1093/hmg/8.2.337. Hum Mol Genet. 1999. PMID: 9931342

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