Kirchhoff M - Search Results

1

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. 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

2

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. Among authors: kirchhoff m. 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.

3

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. Among authors: kirchhoff m. 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

4

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. Among authors: kirchhoff m. 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

5

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. 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

6

Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH.

Kirchhoff M, Pedersen S, Kjeldsen E, Rose H, Dunø M, Kølvraa S, Lundsteen C. Kirchhoff M, et al. Am J Med Genet A. 2004 Jun 1;127A(2):111-7. doi: 10.1002/ajmg.a.20678. Am J Med Genet A. 2004. PMID: 15108196

7

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. 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

8

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. Among authors: kirchhoff m. Clin Dysmorphol. 2007 Apr;16(2):109-112. doi: 10.1097/01.mcd.0000228425.89660.bf. Clin Dysmorphol. 2007. PMID: 17351355

9

Facial asymmetry associated with small and large intestinal atresia, and ipsilateral malformations of eye, skin, and extremities.

Hove HD, Bisgaard AM, Nissen KR, Kirchhoff M. Hove HD, et al. Among authors: kirchhoff m. Clin Dysmorphol. 2008 Apr;17(2):121-122. doi: 10.1097/MCD.0b013e3280fa834e. Clin Dysmorphol. 2008. PMID: 18388783 No abstract available.

10

Heart defects and other features of the 22q11 distal deletion syndrome.

Fagerberg CR, Graakjaer J, Heinl UD, Ousager LB, Dreyer I, Kirchhoff M, Rasmussen AA, Lautrup CK, Birkebaek N, Sorensen K. Fagerberg CR, et al. Among authors: kirchhoff m. Eur J Med Genet. 2013 Feb;56(2):98-107. doi: 10.1016/j.ejmg.2012.09.009. Epub 2012 Oct 10. Eur J Med Genet. 2013. PMID: 23063575 Review.

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