Gene and imprinting defects in patients with Prader-Willi and Angelman syndrome

• Applicant: Dr. Karin Buiting (†)
• Subject Area: Human Genetics
• Term: from 2004 to 2009
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 5339832

• Final Report Year: 2010

Final Report Abstract

No abstract available

Publications

• (2004) Deletion Analysis of the Imprinting Center region in patients with Angelman syndrome and Prader-Willi syndrome. Genetic Testing 8: 387-394
  Race G, Buiting K, Das S
  
• (2004) Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. Hum Mol Genet 13: 2547-55
  Nazlican H, Zeschnigk M, Claussen U, Michel S, Böhringer S, Gillessen-Kaesbach G, Buiting K, Horsthemke S
  
• (2005) Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum Genet 2005, 116:228-230
  Runte M, Varon R, Horn D, Horsthemke S, Buiting K
  
• (2005) Imprinting in Prader-Willi- and Angelman syndromes. In: Encyclopedia of Genetics, Genomics, Proteomics, and Bioinformatics, Hrsg: Lynn Jorde, Peter Little, Mike Dunn and Shankar Subramaniam, Verlag John Wiley & Sons
  Horsthemke B, Suiting K
  (See online at https://doi.org/10.1002/047001153X.g103214)
• (2005) Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. J Med Genet 42: 289-91
  Ludwig M, Katalinic A, Gross S, Sutcliffe A, Varon R, Horsthemke S
  
• (2005) Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. Eur J Hum Genet 13: 273-277
  Wey E, Bartholdi D, Riegel M, Nazlican H, Horsthemke B, Schinzel A, Baumer A
  
• Assisted reproduction; the epigenetic perspective. Hum Reprod Update 11: 473-482
  Horsthemke B, Ludwig M
  
• (2006) CD36 expression and its relationship with obesity in blood cells from people with and without Prader-Willi syndrome. Clin Genet 69: 26-32
  Webb T, Whittington J, Holland AJ, Soni S, Boer H, Clarke, Horsthemke B
  
• (2006) Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15. Eur J Hum Genet 14: 752-758
  Zogel C, Böhringer S, Groß S, Varon R, Buiting K, Horsthemke B
  
• (2006) Imprinting defects on human chromosome 15. Cytogenet and Genome Res
  Horsthemke S, Buiting K
  (See online at https://doi.org/10.1159/000090844)
• (2006) Imprinting in Prader-Willi and Angelman syndromes. Cytogenet and Genome Res 113: 292-299
  Horsthemke B and Buiting K
  
• (2006) Molecular findings. In Management in Prader-Willi syndrome, Hrsg: M. Butler, P. D. Lee, B. Y. Whitman. Springer Verlag, ISBN: 0-387-25397-1
  Buiting K, Horsthemke S
  
• (2007) C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. Genomics 89; 588-59
  Buiting K, Nazlican H, Galetzka D, Wawrzik M, Groß S, Horsthemke B
  
• (2008) A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet, 18:1439-48
  Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke S, Buiting B
  
• (2008) Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion. Am J Med Genet A. 146: 78-82
  Ronan A, Buiting K, Dudding T
  
• (2008) Genomic imprinting and imprinting defects in humans. Adv Genet. 61:225-46
  Horsthemke B. and Suiting K.
  
• (2008) Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet A 146:2041-52
  Horsthemke S, Wagstaff J
  
• (2009) Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis. Eur J.Hum Genet, 2009 May 27. [Epub ahead of print]
  Wawrzik M, Spiess AN, Herrmann R, Buiting K, Horsthemke S