Brockmann K - Search Results

1

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.

Auber B, Bruemmer V, Zoll B, Burfeind P, Boehm D, Liehr T, Brockmann K, Wilichowski E, Argyriou L, Bartels I. Auber B, et al. Among authors: brockmann k. Mol Cytogenet. 2009 Mar 12;2:10. doi: 10.1186/1755-8166-2-10. Mol Cytogenet. 2009. PMID: 19284615 Free PMC article.

2

Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy.

Baumann M, Korenke GC, Weddige-Diedrichs A, Wilichowski E, Hunneman DH, Wilken B, Brockmann K, Klingebiel T, Niethammer D, Kühl J, Ebell W, Hanefeld F. Baumann M, et al. Among authors: brockmann k. Eur J Pediatr. 2003 Jan;162(1):6-14. doi: 10.1007/s00431-002-1097-3. Epub 2002 Nov 19. Eur J Pediatr. 2003. PMID: 12486501

3

Stroke-like pattern in DTI and MRS of childhood mitochondrial leukoencephalopathy.

Brockmann K, Finsterbusch J, Schara U, Wilichowski E, Frahm J, Hanefeld F. Brockmann K, et al. Neuroradiology. 2004 Apr;46(4):267-71. doi: 10.1007/s00234-004-1181-7. Epub 2004 Mar 18. Neuroradiology. 2004. PMID: 15034698

4

Magnetic resonance imaging and proton magnetic resonance spectroscopy of megalencephaly and dilated Virchow-Robin spaces.

Groeschel S, Brockmann K, Dechent P, Wilichowski E, Frahm J, Hanefeld F. Groeschel S, et al. Among authors: brockmann k. Pediatr Neurol. 2006 Jan;34(1):35-40. doi: 10.1016/j.pediatrneurol.2005.05.012. Pediatr Neurol. 2006. PMID: 16376276

5

Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.

Brockmann K, Backes H, Auber B, Kriebel T, Stellmer F, Zoll B. Brockmann K, et al. Am J Med Genet A. 2009 Dec;149A(12):2832-7. doi: 10.1002/ajmg.a.33111. Am J Med Genet A. 2009. PMID: 19938094

6

Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B. Stettner GM, et al. Among authors: brockmann k. Am J Med Genet A. 2011 Aug;155A(8):2003-7. doi: 10.1002/ajmg.a.34122. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739600

7

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.

Shoukier M, Wickert J, Schröder J, Bartels I, Auber B, Zoll B, Salinas-Riester G, Weise D, Brockmann K, Zirn B, Burfeind P. Shoukier M, et al. Among authors: brockmann k. Am J Med Genet A. 2012 Jan;158A(1):229-35. doi: 10.1002/ajmg.a.34387. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140031

8

A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.

Shoukier M, Schröder J, Zoll B, Burfeind P, Freiberg C, Klinge L, Kriebel T, Lingen M, Mohr A, Brockmann K. Shoukier M, et al. Among authors: brockmann k. Am J Med Genet A. 2012 Feb;158A(2):429-33. doi: 10.1002/ajmg.a.34427. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246919

9

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Shoukier M, Klein N, Auber B, Wickert J, Schröder J, Zoll B, Burfeind P, Bartels I, Alsat EA, Lingen M, Grzmil P, Schulze S, Keyser J, Weise D, Borchers M, Hobbiebrunken E, Röbl M, Gärtner J, Brockmann K, Zirn B. Shoukier M, et al. Among authors: brockmann k. Clin Genet. 2013 Jan;83(1):53-65. doi: 10.1111/j.1399-0004.2012.01850.x. Epub 2012 Feb 21. Clin Genet. 2013. PMID: 22283495

10

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U. Spiegler S, et al. Among authors: brockmann k. Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14. Mol Genet Genomic Med. 2014. PMID: 24689081 Free PMC article.

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