Burfeind P - Search Results

1

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: burfeind p. 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

2

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: burfeind p. 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

3

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: burfeind p. 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

4

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.

Pauli S, Schmidt T, Funke R, Zoll B, Burfeind P, Dybowski U, Shoukier M, Bartels I. Pauli S, et al. Among authors: burfeind p. Eur J Med Genet. 2012 Aug-Sep;55(8-9):480-4. doi: 10.1016/j.ejmg.2012.05.004. Epub 2012 Jun 4. Eur J Med Genet. 2012. PMID: 22677035

5

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.

Schwaibold EM, Zoll B, Burfeind P, Hobbiebrunken E, Wilken B, Funke R, Shoukier M. Schwaibold EM, et al. Among authors: burfeind p. Am J Med Genet A. 2013 Oct;161A(10):2634-40. doi: 10.1002/ajmg.a.36129. Epub 2013 Aug 15. Am J Med Genet A. 2013. PMID: 23949945 Review.

6

Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay.

von Beust G, Sauter SM, Liehr T, Burfeind P, Bartels I, Starke H, von Eggeling F, Zoll B. von Beust G, et al. Among authors: burfeind p. Am J Med Genet A. 2005 Aug 15;137(1):59-64. doi: 10.1002/ajmg.a.30835. Am J Med Genet A. 2005. PMID: 16007665 Review.

7

A family with an inverted tandem duplication 5q22.1q23.2.

Schmidt T, Bartels I, Liehr T, Burfeind P, Zoll B, Shoukier M. Schmidt T, et al. Among authors: burfeind p. Cytogenet Genome Res. 2013;139(1):65-70. doi: 10.1159/000342914. Epub 2012 Oct 6. Cytogenet Genome Res. 2013. PMID: 23051634

8

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: burfeind p. Mol Cytogenet. 2009 Mar 12;2:10. doi: 10.1186/1755-8166-2-10. Mol Cytogenet. 2009. PMID: 19284615 Free PMC article.

9

Proven germline mosaicism in a father of two children with CHARGE syndrome.

Pauli S, Pieper L, Häberle J, Grzmil P, Burfeind P, Steckel M, Lenz U, Michelmann HW. Pauli S, et al. Among authors: burfeind p. Clin Genet. 2009 May;75(5):473-9. doi: 10.1111/j.1399-0004.2009.01151.x. Clin Genet. 2009. PMID: 19475719

10

An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.

Auber B, Burfeind P, Thiels C, Alsat EA, Shoukier M, Liehr T, Nelle H, Bartels I, Salinas-Riester G, Laccone F. Auber B, et al. Among authors: burfeind p. Clin Genet. 2010 Jun;77(6):593-7. doi: 10.1111/j.1399-0004.2009.01363.x. Epub 2010 Mar 1. Clin Genet. 2010. PMID: 20236119 No abstract available.

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