Baudis M - Search Results

1

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.

Spengler S, Schönherr N, Binder G, Wollmann HA, Fricke-Otto S, Mühlenberg R, Denecke B, Baudis M, Eggermann T. Spengler S, et al. Among authors: baudis m. J Med Genet. 2010 May;47(5):356-60. doi: 10.1136/jmg.2009.070052. Epub 2009 Sep 16. J Med Genet. 2010. PMID: 19762329 Free article.

2

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.

Begemann M, Spengler S, Kanber D, Haake A, Baudis M, Leisten I, Binder G, Markus S, Rupprecht T, Segerer H, Fricke-Otto S, Mühlenberg R, Siebert R, Buiting K, Eggermann T. Begemann M, et al. Among authors: baudis m. Clin Genet. 2011 Jul;80(1):83-8. doi: 10.1111/j.1399-0004.2010.01514.x. Epub 2010 Jul 22. Clin Genet. 2011. PMID: 20738330

3

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant.

Roos A, Elbracht M, Baudis M, Senderek J, Schönherr N, Eggermann T, Schüler HM. Roos A, et al. Among authors: baudis m. Am J Med Genet A. 2008 Sep 15;146A(18):2417-20. doi: 10.1002/ajmg.a.32465. Am J Med Genet A. 2008. PMID: 18698619

4

Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region.

Eggermann T, Schönherr N, Spengler S, Jäger S, Denecke B, Binder G, Baudis M. Eggermann T, et al. Among authors: baudis m. Am J Med Genet A. 2010 Feb;152A(2):356-9. doi: 10.1002/ajmg.a.33217. Am J Med Genet A. 2010. PMID: 20101688

5

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15).

Eggermann T, Spengler S, Bachmann N, Baudis M, Mau-Holzmann UA, Singer S, Rossier E. Eggermann T, et al. Among authors: baudis m. Am J Med Genet A. 2010 Jun;152A(6):1484-7. doi: 10.1002/ajmg.a.33398. Am J Med Genet A. 2010. PMID: 20503324

6

2p21 Deletions in hypotonia-cystinuria syndrome.

Eggermann T, Spengler S, Venghaus A, Denecke B, Zerres K, Baudis M, Ensenauer R. Eggermann T, et al. Among authors: baudis m. Eur J Med Genet. 2012 Oct;55(10):561-3. doi: 10.1016/j.ejmg.2012.06.008. Epub 2012 Jul 17. Eur J Med Genet. 2012. PMID: 22766003

7

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.

Spengler S, Begemann M, Ortiz Brüchle N, Baudis M, Denecke B, Kroisel PM, Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C, Blümel P, Jauch A, Moog U, Zerres K, Eggermann T. Spengler S, et al. Among authors: baudis m. J Pediatr. 2012 Nov;161(5):933-42. doi: 10.1016/j.jpeds.2012.04.045. Epub 2012 Jun 8. J Pediatr. 2012. PMID: 22683032

8

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Among authors: baudis m. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free article.

9

Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition.

Bug S, Dürig J, Oyen F, Klein-Hitpass L, Martin-Subero JI, Harder L, Baudis M, Arnold N, Kordes U, Dührsen U, Schneppenheim R, Siebert R. Bug S, et al. Among authors: baudis m. Cancer Genet Cytogenet. 2009 Jul;192(1):44-7. doi: 10.1016/j.cancergencyto.2009.03.001. Cancer Genet Cytogenet. 2009. PMID: 19480937

10

Chromosome imbalances in papillary renal cell carcinoma and first cytogenetic data of familial cases analyzed by comparative genomic hybridization.

Bentz M, Bergerheim US, Li C, Joos S, Werner CA, Baudis M, Gnarra J, Merino MJ, Zbar B, Linehan WM, Lichter P. Bentz M, et al. Among authors: baudis m. Cytogenet Cell Genet. 1996;75(1):17-21. doi: 10.1159/000134448. Cytogenet Cell Genet. 1996. PMID: 8995481

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