T. Schwarzbraun

发表

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

Oleksiy Tsybrovskyy, Raimund Winter, Jochen B Geigl, 2010, Histopathology.

Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study

D. Muin, P. Husslein, E. Petek, 2021, Scientific Reports.

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.

A. Rolfs, C. Klein, F. O'callaghan, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

M. Speicher, A. Obenauf, K. Roetzer, 2010, American journal of medical genetics. Part A.

Altered bone matrix mineralization in a patient with Rett syndrome.

P. Roschger, J. Hofstaetter, K. Roetzer, 2010, Bone.

Re‐alignment‐procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes

F. Grill, R. Ganger, K. Roetzer, 2013, Orthopaedic surgery.

The G‐protein Coupled Receptor Associated Sorting Protein GASP‐1 Regulates the Signalling and Trafficking of the Viral Chemokine Receptor US28

H. Vischer, M. Smit, M. Waldhoer, 2010, Traffic.

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

S. Scherer, A. C. Lionel, C. Marshall, 2014, neurogenetics.

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

S. Scherer, A. Noor, W. Roberts, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

A. C. Lionel, C. Marshall, A. Noor, 2014, neurogenetics.

Defining 'chromosomal instability'.

M. Speicher, J. Geigl, A. Obenauf, 2008, Trends in genetics : TIG.

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

R. Ullmann, C. Windpassinger, E. Petek, 2006, Cytogenetic and Genome Research.

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

G. Gillessen‐kaesbach, C. Windpassinger, E. Petek, 2007, American journal of medical genetics. Part A.

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

S. Scherer, A. Noor, J. Vincent, 2006, Molecular Genetics and Genomics.

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

B. Ben-Zeev, E. Petek, A. Zung, 2011, American journal of medical genetics. Part A.

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

A. Noor, J. Vincent, Hanns Lochmüller, 2008, American journal of human genetics.

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

S. Scherer, J. Vincent, C. Windpassinger, 2006, European journal of medical genetics.

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

M. Speicher, J. Geigl, Martina Auer, 2010, Journal of cellular and molecular medicine.

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

M. Speicher, E. Nigg, L. Wang, 2007, Chromosoma.

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

M. Speicher, A. Obenauf, A. Langmann, 2009, Journal of Medical Genetics.

Sporadic gastric Peutz‐Jeghers polyp with intraepithelial neoplasia

L. Harbaum, C. Langner, M. Vieth, 2009, APMIS : acta pathologica, microbiologica, et immunologica Scandinavica.

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

W. Löscher, G. Utermann, A. Janecke, 2009, European Journal of Human Genetics.

Fatal EBV Infection and Variable Clinical Manifestations in an XLP-1 Pedigree – Rapid Diagnosis of Primary Immunodeficiencies may Save Lives

S. Uhrig, M. Speicher, D. Sperl, 2012, Klinische Pädiatrie.

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

C. Windpassinger, E. Petek, K. Wagner, 2006, Journal of Human Genetics.

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

D. Geschwind, J. Vincent, A. Schumacher, 2004, Genomics.

Combined molecular genetic and cytogenetic analysis from single cells after isothermal whole-genome amplification.

J. Geigl, Martina Auer, Peter Ulz, 2011, Clinical chemistry.

Combined molecular genetic and cytogenetic analysis from single cells after isothermal whole-genome amplification.

J. Geigl, Martina Auer, Peter Ulz, 2011, Clinical chemistry.