Kjaergaard S - Search Results

1

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, McGowan R, Metcalfe K, Murdoch-Davis C, Ray M, Rio M, Smithson S, Tolmie J, Turnpenny P, van Bon B, Wieczorek D, Newbury-Ecob R. Hastings R, et al. Among authors: kjaergaard s. Eur J Hum Genet. 2011 May;19(5):513-9. doi: 10.1038/ejhg.2010.234. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368916 Free PMC article. Review.

2

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. Hoischen A, et al. Among authors: kjaergaard s. Nat Genet. 2011 Jun 26;43(8):729-31. doi: 10.1038/ng.868. Nat Genet. 2011. PMID: 21706002

3

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: kjaergaard s. 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

4

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: kjaergaard s. 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

5

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M; Danish Tuberous Sclerosis Group. Rendtorff ND, et al. Among authors: kjaergaard s. Hum Mutat. 2005 Oct;26(4):374-83. doi: 10.1002/humu.20227. Hum Mutat. 2005. PMID: 16114042

6

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T. Møller RS, et al. Among authors: kjaergaard s. Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11. Hum Genet. 2014. PMID: 24326587

7

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. Gabriele M, et al. Among authors: kjaergaard s. Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006. Am J Hum Genet. 2017. PMID: 28575647 Free PMC article.

8

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: kjaergaard s. 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

9

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

Kjaergaard S, Skovby F, Schwartz M. Kjaergaard S, et al. Eur J Hum Genet. 1999 Dec;7(8):884-8. doi: 10.1038/sj.ejhg.5200398. Eur J Hum Genet. 1999. PMID: 10602363

10

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

Kjaergaard S, Skovby F, Schwartz M. Kjaergaard S, et al. Eur J Hum Genet. 1998 Jul-Aug;6(4):331-6. doi: 10.1038/sj.ejhg.5200194. Eur J Hum Genet. 1998. PMID: 9781039

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