List of works - Thomas Schwarzbraun

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

scientific article published on 01 March 2007

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

scientific article

Androgen receptor expression in breast cancer patients tested for BRCA1 and BRCA2 mutations.

scientific article published on December 2010

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

scientific article published in January 2006

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.

scientific article

Combined Molecular Genetic and Cytogenetic Analysis from Single Cells after Isothermal Whole-Genome Amplification ⬇️

scientific article published on May 10, 2011

Defining 'chromosomal instability'.

scientific article

Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.

scientific article

Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions

article

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

scientific article published on 28 November 2005

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

scientific article

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

scientific article published on 19 March 2014

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

scientific article published on 12 February 2011

MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.

scientific article

Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.

scientific article

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

scientific article published on 17 October 2006

Persistence of DNA threads in human anaphase cells suggests late completion of sister chromatid decatenation

scientific article published on 8 November 2007

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

scientific article published on 05 March 2009

Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.

scientific article published in February 2013

Sporadic gastric Peutz-Jeghers polyp with intraepithelial neoplasia

scientific article published on 01 December 2009

The G-protein coupled receptor associated sorting protein GASP-1 regulates the signalling and trafficking of the viral chemokine receptor US28.

scientific article

List of works by Thomas Schwarzbraun

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

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

Androgen receptor expression in breast cancer patients tested for BRCA1 and BRCA2 mutations.

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

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.

Combined Molecular Genetic and Cytogenetic Analysis from Single Cells after Isothermal Whole-Genome Amplification ⬇️

Defining 'chromosomal instability'.

Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.

Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions

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

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.

Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.

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

Persistence of DNA threads in human anaphase cells suggests late completion of sister chromatid decatenation

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

Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.

Sporadic gastric Peutz-Jeghers polyp with intraepithelial neoplasia

The G-protein coupled receptor associated sorting protein GASP-1 regulates the signalling and trafficking of the viral chemokine receptor US28.