Zoll B - Search Results

1

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: zoll b. 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.

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: zoll b. 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: zoll b. 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: zoll b. 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

Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.

Sauter SM, Böhm D, Bartels I, Burfeind P, Laccone FA, Neesen J, Wilken B, Liehr T, Zoll B. Sauter SM, et al. Among authors: zoll b. Am J Med Genet A. 2007 May 15;143A(10):1091-9. doi: 10.1002/ajmg.a.31686. Am J Med Genet A. 2007. PMID: 17431920

6

De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

Schwaibold EM, Bartels I, Küster H, Lorenz M, Burfeind P, Adam R, Zoll B. Schwaibold EM, et al. Among authors: zoll b. Mol Cytogenet. 2014 Jan 23;7(1):7. doi: 10.1186/1755-8166-7-7. Mol Cytogenet. 2014. PMID: 24456940 Free PMC article.

7

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Schwaibold EM, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S. Schwaibold EM, et al. Among authors: zoll b. Mol Cytogenet. 2014 Oct 23;7(1):74. doi: 10.1186/s13039-014-0074-7. eCollection 2014. Mol Cytogenet. 2014. PMID: 25349628 Free PMC article.

8

Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].

Sauter S, von Beust G, Burfeind P, Weise A, Starke H, Liehr T, Zoll B. Sauter S, et al. Among authors: zoll b. Am J Med Genet A. 2003 Aug 1;120A(4):533-6. doi: 10.1002/ajmg.a.20089. Am J Med Genet A. 2003. PMID: 12884434

9

First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.

Meins M, Böhm D, Großmann A, Herting E, Fleckenstein B, Fauth C, Speicher MR, Schindler R, Zoll B, Bartels I, Burfeind P. Meins M, et al. Among authors: zoll b. Am J Med Genet A. 2004 May 15;127A(1):58-64. doi: 10.1002/ajmg.a.20644. Am J Med Genet A. 2004. PMID: 15103719

10

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: zoll b. 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.

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