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39 results
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A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.
Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M. Kirchhoff M, et al. Among authors: bisgaard am. Eur J Med Genet. 2007 Jul-Aug;50(4):256-63. doi: 10.1016/j.ejmg.2007.05.001. Epub 2007 May 18. Eur J Med Genet. 2007. PMID: 17576104
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M. Kirchhoff M, et al. Among authors: bisgaard am. Am J Med Genet A. 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814. Am J Med Genet A. 2009. PMID: 19363806
Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tümer Z. la Cour Sibbesen E, et al. Among authors: bisgaard am. Am J Med Genet A. 2013 Jun;161A(6):1447-52. doi: 10.1002/ajmg.a.35901. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633410
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
Tzschach A, Bisgaard AM, Kirchhoff M, Graul-Neumann LM, Neitzel H, Page S, Ahmed A, Müller I, Erdogan F, Ropers HH, Kalscheuer VM, Ullmann R. Tzschach A, et al. Among authors: bisgaard am. Eur J Hum Genet. 2010 Mar;18(3):291-5. doi: 10.1038/ejhg.2009.163. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844253 Free PMC article.
Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?
Bisgaard AM, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, Jensen T, Ullmann R, Skovby F. Bisgaard AM, et al. Eur J Med Genet. 2007 Jul-Aug;50(4):243-55. doi: 10.1016/j.ejmg.2007.03.004. Epub 2007 Apr 14. Eur J Med Genet. 2007. PMID: 17531565
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH. Ullmann R, et al. Among authors: bisgaard am. Hum Mutat. 2007 Jul;28(7):674-82. doi: 10.1002/humu.20546. Hum Mutat. 2007. PMID: 17480035
Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata.
Bisgaard AM, Rasmussen LN, Møller HU, Kirchhoff M, Bryndorf T. Bisgaard AM, et al. Clin Dysmorphol. 2007 Apr;16(2):109-12. doi: 10.1097/01.mcd.0000228425.89660.bf. Clin Dysmorphol. 2007. PMID: 17351355
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: bisgaard am. 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
Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome.
Bisgaard AM, Rackauskaite G, Thelle T, Kirchhoff M, Bryndorf T. Bisgaard AM, et al. Am J Med Genet A. 2006 Mar 15;140(6):644-8. doi: 10.1002/ajmg.a.31130. Am J Med Genet A. 2006. PMID: 16470702 No abstract available.
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.
Bisgaard AM, Kirchhoff M, Tümer Z, Jepsen B, Brøndum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F. Bisgaard AM, et al. Am J Med Genet A. 2006 Oct 15;140(20):2180-7. doi: 10.1002/ajmg.a.31425. Am J Med Genet A. 2006. PMID: 16955412
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