Kirchhoff M - Search Results

1

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation.

Wohlleber E, Kirchhoff M, Zink AM, Kreiss-Nachtsheim M, Küchler A, Jepsen B, Kjaergaard S, Engels H. Wohlleber E, et al. Among authors: kirchhoff m. Eur J Med Genet. 2011 Jan-Feb;54(1):67-72. doi: 10.1016/j.ejmg.2010.09.012. Epub 2010 Oct 13. Eur J Med Genet. 2011. PMID: 20950717

2

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

3

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

4

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.

Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S. Bartholdi D, et al. Among authors: kirchhoff m. Am J Med Genet A. 2014 May;164A(5):1277-83. doi: 10.1002/ajmg.a.36439. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664804 Free article.

5

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.

Grønborg S, Kjaergaard S, Hove H, Larsen VA, Kirchhoff M. Grønborg S, et al. Among authors: kirchhoff m. Am J Med Genet A. 2015 Nov;167A(11):2731-6. doi: 10.1002/ajmg.a.37227. Epub 2015 Jun 24. Am J Med Genet A. 2015. PMID: 26109418

6

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.

Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP. Lugtenberg D, et al. Among authors: kirchhoff m. Am J Med Genet A. 2010 Mar;152A(3):638-45. doi: 10.1002/ajmg.a.33292. Am J Med Genet A. 2010. PMID: 20186789

7

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Zeesman S, Kjaergaard S, Hove HD, Kirchhoff M, Stevens JM, Nowaczyk MJ. Zeesman S, et al. Among authors: kirchhoff m. Am J Med Genet A. 2012 Aug;158A(8):1832-6. doi: 10.1002/ajmg.a.35508. Epub 2012 Jun 29. Am J Med Genet A. 2012. PMID: 22753084

8

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy.

Kroeldrup L, Kjaergaard S, Kirchhoff M, Kock K, Brasch-Andersen C, Kibaek M, Ousager LB. Kroeldrup L, et al. Among authors: kirchhoff m. Eur J Med Genet. 2012 Oct;55(10):557-60. doi: 10.1016/j.ejmg.2012.04.009. Epub 2012 Jun 6. Eur J Med Genet. 2012. PMID: 22683912

9

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M. Roos L, et al. Among authors: kirchhoff m. J Med Genet. 2009 Oct;46(10):703-10. doi: 10.1136/jmg.2008.065094. Epub 2009 Jun 10. J Med Genet. 2009. PMID: 19520700

10

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

Avila M, Kirchhoff M, Marle N, Hove HD, Chouchane M, Thauvin-Robinet C, Masurel A, Mosca-Boidron AL, Callier P, Mugneret F, Kjaergaard S, Faivre L. Avila M, et al. Among authors: kirchhoff m. Am J Med Genet A. 2013 Jul;161A(7):1594-8. doi: 10.1002/ajmg.a.35970. Epub 2013 May 22. Am J Med Genet A. 2013. PMID: 23704076

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