Medizinische Universität Graz - Research portal
Schwarzbraun Thomas |
** = Publications listed in SCI/SSCI/Pubmed
2021
Full paper/article (Journal)
** Muin, DA; Kollmann, M; Blatterer, J; Hoermann, G; Husslein, PW; Lafer, I; Petek, E; Schwarzbraun, T
Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study.
Sci Rep. 2021; 11(1): 6737-6737.
Doi: 10.1038/s41598-021-85893-0
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2019
Abstract (Journal)
** Birkl-Toeglhofer, AM; Bengesser, S; Rieger, A; Fellendorf, F; Platzer, M; Queissner, R; Hamm, C; Maget, A; Morkl, S; Wagner-Skacel, J; Schwarzbraun, T; Haybaeck, J; Reininghaus, E
GENE EXPRESSION OF EUKARYOTIC INITIATION FACTORS UPON PROBIOTIC ADMINISTRATION IN DEPRESSIVE PATIENTS
EUR NEUROPSYCHOPHARM. 2019; 29: 1232-1232.-26th World Congress of Psychiatric Genetics (WCPG); OCT 11-15, 2018; Glasgow, SCOTLAND.
Doi: 10.1016/j.euroneuro.2018.08.304
[Poster]
Web of Science
FullText
FullText_MUG
** Rieger, A; Bengesser, S; Platzer, M; Fellendorf, F; Queissner, R; Birner, A; Dalkner, N; Mendel, L; Seidl, M; Farber, T; Wetzlmair, L; Heigl, M; Birkl-Toeglhofer, AM; Schwarzbraun, T; Reininghaus, E
THE EFFECTS OF PROBIOTICS ON GENE EXPRESSION AND COGNITIVE FUNCTION IN DEPRESSIVE PATIENTS
EUR NEUROPSYCHOPHARM. 2019; 29: 1213-1213.-26th World Congress of Psychiatric Genetics (WCPG); OCT 11-15, 2018; Glasgow, SCOTLAND.
Doi: 10.1016/j.euroneuro.2018.08.268
[Poster]
Web of Science
FullText
FullText_MUG
2014
Full paper/article (Journal)
** Egger, G; Roetzer, KM; Noor, A; Lionel, AC; Mahmood, H; Schwarzbraun, T; Boright, O; Mikhailov, A; Marshall, CR; Windpassinger, C; Petek, E; Scherer, SW; Kaschnitz, W; Vincent, JB
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Neurogenetics. 2014; 15(2):117-127
Doi: 10.1007/s10048-014-0394-0
Web of Science
PubMed
FullText
FullText_MUG
2013
Full paper/article (Journal)
** Al Kaissi, A; Ganger, R; Roetzer, KM; Schwarzbraun, T; Klaushofer, K; Grill, F
Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.
Orthop Surg. 2013; 5(1): 33-39.
Doi: 10.1111/os.12023
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
2012
Full paper/article (Journal)
** Sperl, D; Benesch, M; Urban, C; Lackner, H; Sovinz, P; Speicher, MR; Uhrig, S; Schwarzbraun, T; Schwinger, W; zur Stadt, U; Beutel, K; Janka, G; Scarpatetti, M; Seidel, MG
Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
Klin Padiatr. 2012; 224(6):386-389
Doi: 10.1055/s-0032-1323836
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
2011
Full paper/article (Journal)
** Fong, CY; Rolfs, A; Schwarzbraun, T; Klein, C; O'Callaghan, FJ
Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.
Eur J Paediatr Neurol. 2011; 15(3):271-275
Doi: 10.1016/j.ejpn.2011.01.001
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
** Kroneis, T; Geigl, JB; El-Heliebi, A; Auer, M; Ulz, P; Schwarzbraun, T; Dohr, G; Sedlmayr, P
Combined molecular genetic and cytogenetic analysis from single cells after isothermal whole-genome amplification.
Clin Chem. 2011; 57(7):1032-1041
Doi: 10.1373/clinchem.2011.162131
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Zung, A; Petek, E; Ben-Zeev, B; Schwarzbraun, T; Ben-Yehoshua, SJ
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.
Am J Med Genet A. 2011; 155A(10):2469-2472
Doi: 10.1002/ajmg.a.33829
Web of Science
PubMed
FullText
FullText_MUG
2010
Full paper/article (Journal)
** Hofstaetter, JG; Roetzer, KM; Krepler, P; Nawrot-Wawrzyniak, K; Schwarzbraun, T; Klaushofer, K; Roschger, P
Altered bone matrix mineralization in a patient with Rett syndrome.
Bone. 2010; 47(3):701-705
Doi: 10.1016/j.bone.2010.06.005
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
** Obenauf, AC; Schwarzbraun, T; Auer, M; Hoffmann, EM; Waldispuehl-Geigl, J; Ulz, P; Günther, B; Duba, HC; Speicher, MR; Geigl, JB
Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.
J Cell Mol Med. 2010; 14(8):2078-2084
Doi: 10.1111/j.1582-4934.2010.01116.x
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Pristauz, G; Petru, E; Stacher, E; Geigl, JB; Schwarzbraun, T; Tsybrovskyy, O; Winter, R; Moinfar, F
Androgen receptor expression in breast cancer patients tested for BRCA1 and BRCA2 mutations.
Histopathology. 2010; 57(6):877-884
Doi: 10.1111/j.1365-2559.2010.03724.x
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
** Roetzer, KM; Schwarzbraun, T; Obenauf, AC; Hauser, E; Speicher, MR
Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.
Am J Med Genet A. 2010; 152A(12):3173-3178
Doi: 10.1002/ajmg.a.33750
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
** Tschische, P; Moser, E; Thompson, D; Vischer, HF; Parzmair, GP; Pommer, V; Platzer, W; Schwarzbraun, T; Schaider, H; Smit, MJ; Martini, L; Whistler, JL; Waldhoer, M
The G-protein coupled receptor associated sorting protein GASP-1 regulates the signalling and trafficking of the viral chemokine receptor US28.
Traffic. 2010; 11(5):660-674
Doi: 10.1111/j.1600-0854.2010.1045.x
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Abstract (Journal)
** Pristauz, G; Petru, E; Stacher, E; Geigl, JB; Schwarzbraun, T; Tsybrovskyy, O; Winter, R; Moinfar, F
Expression of Androgen receptors in breast cancer patients after BRCA1 and BRCA 2 0-mutation test
GEBURTSH FRAUENHEILK. 2010; 70(3):244-244.-Jahrestagung der OEGGG; JUN 2-6, 2010; Zell am See, AUSTRIA.
[Poster]
Web of Science
** Pristauz, G; Petru, E; Stacher, E; Geigl, JB; Schwarzbraun, T; Tsybrovvskyy, O; Winter, R; Moinfar, F
Expression of Androgen receptors in Breast carcinomas of patients for BRCA1 and BRCA2 Mutation Testing.
GEBURTSH FRAUENHEILK. 2010; 70(5):P54-
[Keynote lecture]
Web of Science
2009
Full paper/article (Journal)
** Miltenberger-Miltenyi, G; Schwarzbraun, T; Löscher, WN; Wanschitz, J; Windpassinger, C; Duba, HC; Seidl, R; Albrecht, G; Weirich-Schwaiger, H; Zoller, H; Utermann, G; Auer-Grumbach, M; Janecke, AR
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Eur J Hum Genet. 2009; 17(9): 1154-1159.
Doi: 10.1038/ejhg.2009.29
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
** Vincent, JB; Noor, A; Windpassinger, C; Gianakopoulos, PJ; Schwarzbraun, T; Alfred, SE; Stachowiak, B; Scherer, SW; Roberts, W; Wagner, K; Kroisel, PM; Petek, E
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.
Am J Med Genet B Neuropsychiatr Genet. 2009; 150B(6):817-826
Doi: 10.1002/ajmg.b.30903
Web of Science
PubMed
FullText
FullText_MUG
Short report/Letter
** Harbaum, L; Geigl, JB; Volkholz, H; Schwarzbraun, T; Oschmautz, H; Vieth, M; Langner, C
Sporadic gastric Peutz-Jeghers polyp with intraepithelial neoplasia
APMIS. 2009; 117(12): 941-943.
Doi: 10.1111/j.1600-0463.2009.02549.x
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
** Schwarzbraun, T; Obenauf, A; Langmann, A; Gruber-Sedlmayr, U; Wagner, K; Speicher, M; Kroisel, P
Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.
J Med Genet. 2009; 46(5): 341-344.
Doi: 10.1136/jmg.2008.064972
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Abstract (Journal)
** Schwarzbraun, T; Wang, LHC; Obenauf, AC; Ulz, P; Nigg, EA; Speicher, MR
MITOSIS UPDATED - PICH AND THE ANAPHASE THREADS
CELL ONCOL. 2009; 31(2):90-91.-3rd Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD); APR 01-05, 2009; Edinburgh, SCOTLAND.
[Oral Communication]
Web of Science
2008
Full paper/article (Journal)
** Kroepfl, T; Petek, E; Schwarzbraun, T; Kroisel, PM; Plecko, B
Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).
Clin Genet. 2008; 73(5):492-495
Doi: 10.1111/j.1399-0004.2008.00982.x
Web of Science
PubMed
FullText
FullText_MUG
** Wang, LH; Schwarzbraun, T; Speicher, MR; Nigg, EA
Persistence of DNA threads in human anaphase cells suggests late completion of sister chromatid decatenation.
Chromosoma. 2008; 117(2): 123-135.
Doi: 10.1007/s00412-007-0131-7
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Google Scholar
** 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
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Am J Hum Genet. 2008; 82(1): 88-99.
Doi: 10.1016/j.ajhg.2007.09.004
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
Review
** Geigl, JB; Obenauf, AC; Schwarzbraun, T; Speicher, MR
Defining 'chromosomal instability'.
Trends Genet. 2008; 24(2): 64-69.
Doi: 10.1016/j.tig.2007.11.006
Web of Science
PubMed
FullText
FullText_MUG
Abstract (Proceedings)
** Quasthoff, S; Windpassinger C; Schoser B; Hochmeister S; Straub V; Lohberger B; Petek E; Schwarzbraun T; Wagner K, Löscher WN; Lochmüller H; Farra N; Ofner L; Mikhailov A; Vincent JB
FHL1 Gene mutation associated myopathy: a novel class of inherited myopathies.
. 2008; 255(2): 33-33.
[Oral Communication]
Web of Science
2007
Full paper/article (Journal)
** 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
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Mol Genet Genomics. 2007; 277(1):71-81
Doi: 10.1007/s00438-006-0173-1
Web of Science
PubMed
FullText
FullText_MUG
** Schwarzbraun, T; Ofner, L; Gillessen-Kaesbach, G; Schaperdoth, B; Preisegger, KH; Windpassinger, C; Wagner, K; Petek, E; Kroisel, PM
A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes.
Am J Med Genet A. 2007; 143(6): 619-624.
Doi: 10.1002/ajmg.a.31627
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
Abstract (Journal)
** Schwarzbraun, T; Pfleghaar, K; Obenauf, A; Cremer, T; Cremer, M; Speicher, M
The impact of CDC4 mutations and cyclin E increase on chromosomal instability
CELL ONCOL. 2007; 29(2):116-117.-MC-GARD Conference: Molecular profiling of the genome; Amsterdam, Netherlands.
[Oral Communication]
Web of Science
2006
Full paper/article (Journal)
** Ofner, L; Raedle, J; Windpassinger, C; Schwarzbraun, T; Kroisel, PM; Wagner, K; Petek, E
Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.
J HUM GENET. 2006; 51(2): 141-146.
Doi: 10.1007/s10038-005-0333-x
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
** Schwarzbraun, T; Ullmann, R; Schubert, M; Ledinegg, M; Ofner, L; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E
Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.
Cytogenet Genome Res. 2006; 115(1):84-89
Doi: 10.1159/000094804
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
** Schwarzbraun, T; Windpassinger, C; Ofner, L; Vincent, JB; Cheung, J; Scherer, SW; Wagner, K; Kroisel, PM; Petek, E
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
EUR J MED GENET. 2006; 49(4): 338-345.
Doi: 10.1016/j.ejmg.2005.10.133
Web of Science
PubMed
FullText
FullText_MUG
2004
Full paper/article (Journal)
** Schwarzbraun, T; Vincent, JB; Schumacher, A; Geschwind, DH; Oliveira, J; Windpassinger, C; Ofner, L; Ledinegg, MK; Kroisel, PM; Wagner, K; Petek, E
Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.
Genomics. 2004; 84(3):577-586
Doi: 10.1016/j.ygeno.2004.04.013
Web of Science
PubMed
FullText
FullText_MUG