Heinrich U - Search Results

1

Mapping translocation breakpoints by next-generation sequencing.

Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz MH, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser B, Vingron M, Ropers HH. Chen W, et al. Among authors: heinrich u. Genome Res. 2008 Jul;18(7):1143-9. doi: 10.1101/gr.076166.108. Epub 2008 Mar 7. Genome Res. 2008. PMID: 18326688 Free PMC article.

2

Proof of partial imbalances 6q and 11q due to maternal complex balanced translocation analyzed by microdissection of multicolor labeled chromosomes (FISH-MD) in a patient with Dandy-Walker variant.

Weimer J, Cohen M, Wiedemann U, Heinrich U, Jonat W, Arnold N. Weimer J, et al. Among authors: heinrich u. Cytogenet Genome Res. 2006;114(3-4):235-9. doi: 10.1159/000094206. Cytogenet Genome Res. 2006. PMID: 16954659

3

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H. Schell-Apacik CC, et al. Among authors: heinrich u. Am J Med Genet A. 2008 Oct 1;146A(19):2501-11. doi: 10.1002/ajmg.a.32476. Am J Med Genet A. 2008. PMID: 18792984 Free PMC article.

4

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

Hoefele J, Gabert M, Heinrich U, Benz K, Rompel O, Rost I, Klein HG, Kunstmann E. Hoefele J, et al. Among authors: heinrich u. Eur J Med Genet. 2012 Mar;55(3):211-5. doi: 10.1016/j.ejmg.2012.01.011. Epub 2012 Jan 31. Eur J Med Genet. 2012. PMID: 22361651

5

Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.

Hoefele J, Wilhelm C, Schiesser M, Mack R, Heinrich U, Weber LT, Biskup S, Daumer-Haas C, Klein HG, Rost I. Hoefele J, et al. Among authors: heinrich u. Gene. 2013 May 15;520(2):194-7. doi: 10.1016/j.gene.2013.02.031. Epub 2013 Mar 6. Gene. 2013. PMID: 23473829

6

The t(11;18)(q21;q21) chromosome translocation is a frequent and specific aberration in low-grade but not high-grade malignant non-Hodgkin's lymphomas of the mucosa-associated lymphoid tissue (MALT-) type.

Ott G, Katzenberger T, Greiner A, Kalla J, Rosenwald A, Heinrich U, Ott MM, Müller-Hermelink HK. Ott G, et al. Among authors: heinrich u. Cancer Res. 1997 Sep 15;57(18):3944-8. Cancer Res. 1997. PMID: 9307277

7

Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

Schell-Apacik C, Hardt M, Ertl-Wagner B, Klopocki E, Möhrenschlager M, Heinrich U, von Voss H. Schell-Apacik C, et al. Among authors: heinrich u. Eur J Pediatr. 2008 Sep;167(9):1057-62. doi: 10.1007/s00431-007-0641-6. Epub 2008 Jan 17. Eur J Pediatr. 2008. PMID: 18204861 Review.

8

A new familial case of microdeletion syndrome 10p15.3.

Eggert M, Müller S, Heinrich U, Mehraein Y. Eggert M, et al. Among authors: heinrich u. Eur J Med Genet. 2016 Apr;59(4):179-82. doi: 10.1016/j.ejmg.2016.02.008. Epub 2016 Feb 24. Eur J Med Genet. 2016. PMID: 26921531

9

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature.

Schell-Apacik CC, Cohen M, Vojta S, Ertl-Wagner B, Klopocki E, Heinrich U, von Voss H. Schell-Apacik CC, et al. Among authors: heinrich u. Eur J Pediatr. 2008 Jan;167(1):123-6. doi: 10.1007/s00431-007-0478-z. Epub 2007 May 5. Eur J Pediatr. 2008. PMID: 17483961

10

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA. Li F, et al. Among authors: heinrich u. Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. doi: 10.1016/j.ejmg.2010.01.004. Epub 2010 Feb 2. Eur J Med Genet. 2010. PMID: 20132918

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