Schwarzbraun T - Search Results

1

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.

Ofner L, Raedle J, Windpassinger C, Schwarzbraun T, Kroisel PM, Wagner K, Petek E. Ofner L, et al. Among authors: schwarzbraun t. J Hum Genet. 2006;51(2):141-146. doi: 10.1007/s10038-005-0333-x. Epub 2005 Dec 20. J Hum Genet. 2006. PMID: 16365682

2

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.

Schwarzbraun T, Ullmann R, Schubert M, Ledinegg M, Ofner L, Windpassinger C, Wagner K, Kroisel PM, Petek E. Schwarzbraun T, et al. Cytogenet Genome Res. 2006;115(1):84-9. doi: 10.1159/000094804. Cytogenet Genome Res. 2006. PMID: 16974087

3

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).

Kroepfl T, Petek E, Schwarzbraun T, Kroisel PM, Plecko B. Kroepfl T, et al. Among authors: schwarzbraun t. Clin Genet. 2008 May;73(5):492-5. doi: 10.1111/j.1399-0004.2008.00982.x. Epub 2008 Mar 12. Clin Genet. 2008. PMID: 18341605

4

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).

Schwarzbraun T, Windpassinger C, Ofner L, Vincent JB, Cheung J, Scherer SW, Wagner K, Kroisel PM, Petek E. Schwarzbraun T, et al. Eur J Med Genet. 2006 Jul-Aug;49(4):338-45. doi: 10.1016/j.ejmg.2005.10.133. Epub 2005 Nov 28. Eur J Med Genet. 2006. PMID: 16829355

5

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.

Schwarzbraun T, Ofner L, Gillessen-Kaesbach G, Schaperdoth B, Preisegger KH, Windpassinger C, Wagner K, Petek E, Kroisel PM. Schwarzbraun T, et al. Am J Med Genet A. 2007 Mar 15;143A(6):619-24. doi: 10.1002/ajmg.a.31627. Am J Med Genet A. 2007. PMID: 17318840 No abstract available.

6

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.

Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K, Petek E. Schwarzbraun T, et al. Genomics. 2004 Sep;84(3):577-86. doi: 10.1016/j.ygeno.2004.04.013. Genomics. 2004. PMID: 15498464

7

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.

Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HM, Kroisel PM, Wagner K, Scherer SW, Vincent JB. Petek E, et al. Among authors: schwarzbraun t. Mol Genet Genomics. 2007 Jan;277(1):71-81. doi: 10.1007/s00438-006-0173-1. Epub 2006 Oct 17. Mol Genet Genomics. 2007. PMID: 17043892 Clinical Trial.

8

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.

Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S. Windpassinger C, et al. Among authors: schwarzbraun t. Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004. Am J Hum Genet. 2008. PMID: 18179888 Free PMC article.

9

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.

Schwarzbraun T, Obenauf AC, Langmann A, Gruber-Sedlmayr U, Wagner K, Speicher MR, Kroisel PM. Schwarzbraun T, et al. J Med Genet. 2009 May;46(5):341-4. doi: 10.1136/jmg.2008.064972. Epub 2009 Mar 5. J Med Genet. 2009. PMID: 19269943 Free PMC article.

10

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.

Vincent JB, Noor A, Windpassinger C, Gianakopoulos PJ, Schwarzbraun T, Alfred SE, Stachowiak B, Scherer SW, Roberts W, Wagner K, Kroisel PM, Petek E. Vincent JB, et al. Among authors: schwarzbraun t. Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):817-26. doi: 10.1002/ajmg.b.30903. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19086034

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