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MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T. Kirchhoff M, et al. Among authors: bryndorf t. Eur J Med Genet. 2007 Jan-Feb;50(1):33-42. doi: 10.1016/j.ejmg.2006.10.002. Epub 2006 Oct 10. Eur J Med Genet. 2007. PMID: 17090394
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C, Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-Schich Z, Boring CA, Mehrjouy MM, Jensen PKA, Fagerberg C, Krogh LN, Hansen J, Bryndorf T, Hansen C, Talkowski ME, Bak M, Tommerup N, Bache I. Halgren C, et al. Among authors: bryndorf t. Am J Hum Genet. 2018 Jun 7;102(6):1090-1103. doi: 10.1016/j.ajhg.2018.04.005. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805044 Free PMC article.
Comparative genomic hybridization in clinical cytogenetics.
Bryndorf T, Kirchhoff M, Rose H, Maahr J, Gerdes T, Karhu R, Kallioniemi A, Christensen B, Lundsteen C, Philip J. Bryndorf T, et al. Am J Hum Genet. 1995 Nov;57(5):1211-20. Am J Hum Genet. 1995. PMID: 7485173 Free PMC article.
4q35 deletion and 10p15 duplication associated with immunodeficiency.
Cingoz S, Bisgaard AM, Bache I, Bryndorf T, Kirchoff M, Petersen W, Ropers HH, Maas N, Van Buggenhout G, Tommerup N, Tümer Z. Cingoz S, et al. Among authors: bryndorf t. Am J Med Genet A. 2006 Oct 15;140(20):2231-5. doi: 10.1002/ajmg.a.31431. Am J Med Genet A. 2006. PMID: 16964622
36 results