Dufke A - Search Results

1

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D. Grasshoff U, et al. Among authors: dufke a. Eur J Hum Genet. 2011 May;19(5):507-12. doi: 10.1038/ejhg.2010.226. Epub 2011 Feb 16. Eur J Hum Genet. 2011. PMID: 21326285 Free PMC article.

2

Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker.

Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schöning M, Enders H, Eggermann T. Dufke A, et al. Eur J Hum Genet. 2001 Aug;9(8):572-6. doi: 10.1038/sj.ejhg.5200673. Eur J Hum Genet. 2001. PMID: 11528501

3

A complex chromosomal rearrangement with a translocation 4;10;14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q13-->q24.1 and partial monosomy 4q27-->q28 [corrected].

Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schöning M, Dufke A. Grasshoff U, et al. Among authors: dufke a. Cytogenet Genome Res. 2003;103(1-2):17-23. doi: 10.1159/000076282. Cytogenet Genome Res. 2003. PMID: 15004458

4

A rapid microarray based whole genome analysis for detection of uniparental disomy.

Altug-Teber O, Dufke A, Poths S, Mau-Holzmann UA, Bastepe M, Colleaux L, Cormier-Daire V, Eggermann T, Gillessen-Kaesbach G, Bonin M, Riess O. Altug-Teber O, et al. Among authors: dufke a. Hum Mutat. 2005 Aug;26(2):153-9. doi: 10.1002/humu.20198. Hum Mutat. 2005. PMID: 15968682

5

Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome.

Beschorner R, Wehrmann M, Ernemann U, Bonin M, Horber V, Oehl-Jaschkowitz B, Meyermann R, Dufke A. Beschorner R, et al. Among authors: dufke a. Acta Neuropathol. 2007 Mar;113(3):339-46. doi: 10.1007/s00401-006-0179-0. Epub 2006 Dec 13. Acta Neuropathol. 2007. PMID: 17165030

6

Specific transcriptional changes in human fetuses with autosomal trisomies.

Altug-Teber O, Bonin M, Walter M, Mau-Holzmann UA, Dufke A, Stappert H, Tekesin I, Heilbronner H, Nieselt K, Riess O. Altug-Teber O, et al. Among authors: dufke a. Cytogenet Genome Res. 2007;119(3-4):171-84. doi: 10.1159/000112058. Epub 2008 Feb 1. Cytogenet Genome Res. 2007. PMID: 18253026

7

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: dufke a. 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.

8

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.

McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, Riess A, Altug-Teber O, Enders H, Singer S, Grasshoff U, Walter M, Walker JM, Lamb CV, Davison EV, Brueton L, Riess O, Veltman JA. McMullan DJ, et al. Among authors: dufke a. Hum Mutat. 2009 Jul;30(7):1082-92. doi: 10.1002/humu.21015. Hum Mutat. 2009. PMID: 19388127

9

Mosaic trisomy 21/monosomy 21 in a living female infant.

Nguyen HP, Riess A, Krüger M, Bauer P, Singer S, Schneider M, Enders H, Dufke A. Nguyen HP, et al. Among authors: dufke a. Cytogenet Genome Res. 2009;125(1):26-32. doi: 10.1159/000218745. Epub 2009 Jul 14. Cytogenet Genome Res. 2009. PMID: 19617693

10

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring I, Zink AM, Rappold G, Schröck E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A. Hoyer J, et al. Among authors: dufke a. Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007. Am J Hum Genet. 2012. PMID: 22405089 Free PMC article.

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