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Petek Erwin |

Publications

** = Publications listed in SCI/SSCI/Pubmed

2024

Abstract (Journal)

** Kaufmann, L; Pilic, J; Auinger, L; Mayer, AL; Blatterer, J; Semmler-Bruckner, J; Abbas, S; Rehman, K; Ayaz, M; Graier, W; Malli, R; Petek, E; Wagner, K; Al Kaissi, A; Khan, MA; Windpassinger, C Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
EUR J HUM GENET. 2024; 32: 408-408.-56th Annual Conference of the European-Society-of-Human-Genetics (ESHG); JUN 10-13, 2023; Glasgow, SCOTLAND.
Web of Science

2023

Full paper/article (Journal)

** Kaufmann, L; Pilic, J; Auinger, L; Mayer, AL; Blatterer, J; Semmler-Bruckner, J; Abbas, S; Rehman, K; Ayaz, M; Graier, WF; Malli, R; Petek, E; Wagner, K; Al, Kaissi, A; Khan, MA; Windpassinger, C Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Clin Genet. 2023; 104(4):491-496 Doi: 10.1111/cge.14381
Web of Science PubMed FullText FullText_MUG

2022

Full paper/article (Journal)

** Muzammal, M; Ali, MZ; Brugger, B; Blatterer, J; Ahmad, S; Taj, S; Shah, SK; Khan, S; Enzinger, C; Petek, E; Wagner, K; Khan, MA; Windpassinger, C A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Metab Brain Dis. 2022; 37(1):243-252 Doi: 10.1007/s11011-021-00832-2 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Schaflinger, E; Blatterer, J; Khan, AS; Kaufmann, L; Auinger, L; Tatrai, B; Abbasi, SW; Zeeshan, Ali, M; Abbasi, AA; Al, Kaissi, A; Petek, E; Wagner, K; Ahmad, Khan, M; Windpassinger, C An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Gene. 2022; 833: 146582 Doi: 10.1016/j.gene.2022.146582
Web of Science PubMed FullText FullText_MUG

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

2020

Case Report

** Ali, MZ; Blatterer, J; Khan, MA; Schaflinger, E; Petek, E; Ahmad, S; Khan, E; Windpassinger, C Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
Mol Genet Genomic Med. 2020; 8(2):e1060 Doi: 10.1002/mgg3.1060 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2019

Full paper/article (Journal)

** Ahmed, J; Windpassinger, C; Salim, M; Wiener, M; Petek, E; Schaflinger, E; Taj, S; Hussain, S; Abbas, S; Abbas, M; Younis, I; Muhammad, N; Khan, S; Khan, MA Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.
J Pak Med Assoc. 2019; 69(12): 1812-1816. Doi: 10.5455/JPMA.300681 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Bengesser, SA; Mörkl, S; Painold, A; Dalkner, N; Birner, A; Fellendorf, FT; Platzer, M; Queissner, R; Hamm, C; Maget, A; Pilz, R; Rieger, A; Wagner-Skacel, J; Reininghaus, B; Kapfhammer, HP; Petek, E; Kashofer, K; Halwachs, B; Holzer, P; Waha, A; Reininghaus, EZ Epigenetics of the molecular clock and bacterial diversity in bipolar disorder.
Psychoneuroendocrinology. 2019; 101(6):160-166 Doi: 10.1016/j.psyneuen.2018.11.009
Web of Science PubMed FullText FullText_MUG

** Mann, K; Petek, E; Pertl, B Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR.
Methods Mol Biol. 2019; 1885: 139-160. Doi: 10.1007/978-1-4939-8889-1_10
PubMed FullText FullText_MUG

Abstract (Journal)

** Khan, MA; Blatterer, J; Ali, MZ; Baufeld, L; Petek, E; Wagner, K; Ramadani-Muja, J; Malli, R; Muzammal, M; Windpassinger, C Molecular genetic and cellular characterization of a missense mutation in SLITRK1 associated with non-syndromic autosomal recessive intellectual disability
EUR J HUM GENET. 2019; 27: 1463-1463. [Poster]
Web of Science

2018

Full paper/article (Journal)

** Bengesser, SA; Reininghaus, EZ; Lackner, N; Birner, A; Fellendorf, FT; Platzer, M; Kainzbauer, N; Tropper, B; Hörmanseder, C; Queissner, R; Kapfhammer, HP; Wallner-Liebmann, SJ; Fuchs, R; Petek, E; Windpassinger, C; Schnalzenberger, M; Reininghaus, B; Evert, B; Waha, A Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL.
World J Biol Psychiatry. 2018; 19(sup2):S21-S29 Doi: 10.1080/15622975.2016.1231421
Web of Science PubMed FullText FullText_MUG

2017

Full paper/article (Journal)

** Ebner, T; Höggerl, A; Oppelt, P; Radler, E; Enzelsberger, SH; Mayer, RB; Petek, E; Shebl, O Time-lapse imaging provides further evidence that planar arrangement of blastomeres is highly abnormal.
Arch Gynecol Obstet. 2017; 296(6):1199-1205 Doi: 10.1007/s00404-017-4531-5 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Shebl, O; Sifferlinger, I; Habelsberger, A; Oppelt, P; Mayer, RB; Petek, E; Ebner, T Oocyte competence in in vitro fertilization and intracytoplasmic sperm injection patients suffering from endometriosis and its possible association with subsequent treatment outcome: a matched case-control study.
Acta Obstet Gynecol Scand. 2017; 96(6):736-744 Doi: 10.1111/aogs.12941
Web of Science PubMed FullText FullText_MUG

Abstract (Journal)

** Bengesser, S; Reininghaus, E; Platzer, M; Fellendorf, F; Birner, A; Tropper, B; Lackner, N; Kapfhammer, HP; Petek, E; Heilbronner, U; Schulze, T; Schnalzenberger, M; Fuchs, R; Waha, A; Waha, A EPIGENETIC ANALYSIS OF THE CLOCK GENE ARNTL IN BIPOLAR DISORDER
EUR NEUROPSYCHOPHARM. 2017; 27: S153-S154.-23rd Annual World Congress of Psychiatric Genetics (WCPG); OCT 16-20, 2015; Toronto, CANADA. [Poster]
Web of Science

2016

Full paper/article (Journal)

** Ebner, T; Tritscher, K; Mayer, RB; Oppelt, P; Duba, HC; Maurer, M; Schappacher-Tilp, G; Petek, E; Shebl, O Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender.
J Assist Reprod Genet. 2016; 33(1):49-57 Doi: 10.1007/s10815-015-0609-9 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Krause, I; Pohler, U; Grosse, S; Shebl, O; Petek, E; Chandra, A; Ebner, T Characterization of the injection funnel during intracytoplasmic sperm injection reflects cytoplasmic maturity of the oocyte.
Fertil Steril. 2016; 106(5):1101-1106 Doi: 10.1016/j.fertnstert.2016.06.015 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2015

Full paper/article (Journal)

** Litscher, D; Wang, G; Gaischek, I; Wang, L; Wallner-Liebmann, S; Petek, E Yellow laser acupuncture - A new option for prevention and early intervention of lifestyle-related diseases: A randomized, placebo-controlled trial in volunteers.
Laser Ther. 2015; 24(1):53-61 Doi: 10.5978/islsm.15-OR-07 [OPEN ACCESS]
PubMed FullText FullText_MUG

** Nerstheimer, S; Tauscher, P; Petek, E; Schappacher-Tilp, G HLA-frequencies of Austrian umbilical cord blood samples.
Hum Immunol. 2015; 76(11):863-7 Doi: 10.1016/j.humimm.2015.09.049
Web of Science PubMed FullText FullText_MUG

Abstract (Journal)

** Bengesser, S; Lackner, N; Birner, A; Reininghaus, B; Heilbronner, U; Fuchs, R; Allard, N; Wallner-Liebmann, S; Rieger, A; Queissner, R; Filic, K; Fellendorf, F; Petek, E; Windpassinger, C; Schorkhuber, C; Gigler, C; Gatkowsky, K; Macheiner, T; Kainzbauer, N; Reininghaus, E Is the Molecular Clock Ticking Differently in Bipolar Disorder?
EUR PSYCHIAT. 2015; 30: Doi: 10.1016/S0924-9338(15)30441-7 [Poster]
Web of Science FullText FullText_MUG

** Ebner, T; Shebl, O; Tritscher, K; Oppelt, P; Duba, HC; Maurer, M; Schappacher-Tilp, G; Petek, E; Mayer, RB Qualitative and quantitative grading of human blastocysts and its association with live-birth rate and neonatal outcome
HUM REPROD. . 2015; 30: 44-45.-31st Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE); JUN 14-17, 2015; Lisbon, PORTUGAL. [Oral Communication]
Web of Science

** Shebl, O; Oppelt, P; Sifferlinger, I; Habelsberger, A; Mayer, R; Petek, E; Ebner, T Ova Morphology and Quality in Eendometriosis Patients in the Context of an ART
GEBURTSH FRAUENHEILK. . 2015; 75(7): Doi: 10.1055/s-0035-1558389 [Oral Communication]
Web of Science FullText FullText_MUG

2014

Full paper/article (Journal)

** Casper, M; Petek, E; Henn, W; Niewald, M; Schneider, G; Zimmer, V; Lammert, F; Raedle, J Multidisciplinary treatment of desmoid tumours in Gardner's syndrome due to a large interstitial deletion of chromosome 5q.
QJM. 2014; 107(7):521-527 Doi: 10.1093/qjmed/hcu036 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Ebner, T; Shebl, O; Holzer, S; Oppelt, P; Petek, E; Schappacher-Tilp, G; Mayer, RB Viability of cumulus cells is associated with basal AMH levels in assisted reproduction.
Eur J Obstet Gynecol Reprod Biol. 2014; 183(50):59-63 Doi: 10.1016/j.ejogrb.2014.10.015
Web of Science PubMed FullText FullText_MUG

** 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

** Marschik, PB; Bartl-Pokorny, KD; Tager-Flusberg, H; Kaufmann, WE; Pokorny, F; Grossmann, T; Windpassinger, C; Petek, E; Einspieler, C Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.
Dev Neurorehabil. 2014; 17(1):34-38 Doi: 10.3109/17518423.2013.837537 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2013

Full paper/article (Journal)

** Lionel, AC; Vaags, AK; Sato, D; Gazzellone, MJ; Mitchell, EB; Chen, HY; Costain, G; Walker, S; Egger, G; Thiruvahindrapuram, B; Merico, D; Prasad, A; Anagnostou, E; Fombonne, E; Zwaigenbaum, L; Roberts, W; Szatmari, P; Fernandez, BA; Georgieva, L; Brzustowicz, LM; Roetzer, K; Kaschnitz, W; Vincent, JB; Windpassinger, C; Marshall, CR; Trifiletti, RR; Kirmani, S; Kirov, G; Petek, E; Hodge, JC; Bassett, AS; Scherer, SW Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet. 2013; 22(10):2055-2066 Doi: 10.1093/hmg/ddt056 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Seiringer, M; Maurer, M; Shebl, O; Dreier, K; Tews, G; Ziehr, S; Schappacher-Tilp, G; Petek, E; Ebner, T Efficacy of a sperm-selection chamber in terms of morphology, aneuploidy and DNA packaging.
Reprod Biomed Online. 2013; 27(1):81-88 Doi: 10.1016/j.rbmo.2013.03.013 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2011

Full paper/article (Journal)

** Mann, K; Petek, E; Pertl, B Prenatal detection of chromosome aneuploidy by quantitative-fluorescence PCR.
Methods Mol Biol. 2011; 688:207-226 Doi: 10.1007/978-1-60761-947-5_14
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)

** Kroneis, T; Gutstein-Abo, L; Kofler, K; Hartmann, M; Hartmann, P; Alunni-Fabbroni, M; Walcher, W; Dohr, G; Petek, E; Guetta, E; Sedlmayr, P Automatic retrieval of single microchimeric cells and verification of identity by on-chip multiplex PCR.
J Cell Mol Med. 2010; 14(4):954-69 Doi: 10.1111/j.1582-4934.2009.00784.x [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

Abstract (Journal)

** Sedlmayr, P; Kroneis, T; Petek, E Microchimerism: implications for immunology and prenatal diagnosis
AMER J REPROD IMMUNOL. 2010; 64: 6-6.-. 2nd International Conference on Reproductive Immunology; NOV 28 - DEC 2, 2010; Shanghai. CHINA. [Keynote lecture]
Web of Science

2009

Full paper/article (Journal)

** 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
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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

** Mann, K; Petek, E; Pertl, B Prenatal detection of chromosome aneuploidy by quantitative fluorescence PCR.
Methods Mol Biol. 2008; 444(4):71-94 Doi: 10.1007/978-1-59745-066-9_6
PubMed FullText FullText_MUG

** 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]
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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)

** Mach, M; Windpassinger, C; Wagner, K; Kroisel, PM; Petek, E Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
GENET COUNSEL. 2007; 18(1): 9-16. (- Case Report)
Web of Science PubMed

** Oliveira, JR; Sobrido, MJ; Spiteri, E; Hopfer, S; Meroni, G; Petek, E; Baquero, M; Geschwind, DH Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification (Fahr's disease).
J Mol Neurosci. 2007; 33(2): 151-154. Doi: 10.1007/s12031-007-0030-7
Web of Science PubMed FullText FullText_MUG

** 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

** Varon, R; Müer, A; Wagner, K; Zierler, H; Sodia, S; Rauter, L; Petek, E; Tönnies, H; Neitzel, H; Sperling, K; Kroisel, PM Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
Am J Med Genet A. 2007; 143(1): 92-94. Doi: 10.1002/ajmg.a.31540 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2006

Full paper/article (Journal)

** Hörl, G; Kroisel, PM; Wagner, E; Tiran, B; Petek, E; Steyrer, E Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.
Atherosclerosis. 2006; 187(1): 101-109. Doi: 10.1016/j.atherosclerosis.2005.08.038
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** 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

Abstract (Journal)

** Vincent, J; Marsha, C; Noor, A; Windpassinger, C; Horike, S; Choufani, S; Stachowiak, B; Skaug, J; Sloman, L; Kroisel, P; Petek, E; Roberts, W; Scherer, S Molecular analysis of 8 autism patients with cytogenetic abnormalities
AM J MED GENET PART B. 714-714. [Poster]
Web of Science

2005

Full paper/article (Journal)

** Singer, G; Schalamon, J; Ainoedhofer, H; Petek, E; Kroisel, PM; Höllwarth, ME Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.
J PEDIAT SURG. 2005; 40(11): e47-e50. Doi: 10.1016/j.jpedsurg.2005.07.048 (- Case Report)
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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
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** Windpassinger, C; Auer-Grumbach, M; Irobi, J; Patel, H; Petek, E; Hörl, G; Malli, R; Reed, JA; Dierick, I; Verpoorten, N; Warner, TT; Proukakis, C; Van den Bergh, P; Verellen, C; Van Maldergem, L; Merlini, L; De Jonghe, P; Timmerman, V; Crosby, AH; Wagner, K Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Nat Genet. 2004; 36(3):271-276 Doi: 10.1038/ng1313 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG Google Scholar

Short report/Letter

** Kroisel, PM; Windpassinger, C; Wagner, K; Petek, E; Vincent, JB; Scherer, SW; Spiel, G; Artner, V; Valtiner, E De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder.
AM J MED GENET PART A. 2004; 129A(1): 98-100. Doi: 10.1002/ajmg.a.30150 (- Case Report)
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Abstract (Journal)

** Sedlmayr, P; Hennerbichler, S; Schulz, E; Petek, E; Pertl, B; Wintersteiger, R; Kroisel, P; Dohr, G Non-invasive prenatal diagnostics using slide-based cytometry
CYTOMETRY PART A 2004 60A: 200-200.
Web of Science

2003

Full paper/article (Journal)

** Petek, E; Pertl, B; Tschernigg, M; Bauer, M; Mayr, J; Wagner, K; Kroisel, PM Characterisation of a 19-year-old long-term survivor with Edwards syndrome.
Genet Couns. 2003; 14(2):239-244 (- Case Report)
Web of Science PubMed

** Petek, E; Windpassinger, C; Mach, M; Rauter, L; Scherer, SW; Wagner, K; Kroisel, PM Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.
AM J MED GENET PART A. 2003; 117A(2): 122-126. Doi: 10.1002/ajmg.a.10155 (- Case Report)
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** Petek, E; Windpassinger, C; Simma, B; Mueller, T; Wagner, K; Kroisel, PM Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
J Hum Genet. 2003; 48(6):283-287 Doi: 10.1007/s10038-003-0023-5 (- Case Report) [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

** Scherer, SW; Cheung, J; MacDonald, JR; Osborne, LR; Nakabayashi, K; Herbrick, JA; Carson, AR; Parker-Katiraee, L; Skaug, J; Khaja, R; Zhang, J; Hudek, AK; Li, M; Haddad, M; Duggan, GE; Fernandez, BA; Kanematsu, E; Gentles, S; Christopoulos, CC; Choufani, S; Kwasnicka, D; Zheng, XH; Lai, Z; Nusskern, D; Zhang, Q; Gu, Z; Lu, F; Zeesman, S; Nowaczyk, MJ; Teshima, I; Chitayat, D; Shuman, C; Weksberg, R; Zackai, EH; Grebe, TA; Cox, SR; Kirkpatrick, SJ; Rahman, N; Friedman, JM; Heng, HH; Pelicci, PG; Lo-Coco, F; Belloni, E; Shaffer, LG; Pober, B; Morton, CC; Gusella, JF; Bruns, GA; Korf, BR; Quade, BJ; Ligon, AH; Ferguson, H; Higgins, AW; Leach, NT; Herrick, SR; Lemyre, E; Farra, CG; Kim, HG; Summers, AM; Gripp, KW; Roberts, W; Szatmari, P; Winsor, EJ; Grzeschik, KH; Teebi, A; Minassian, BA; Kere, J; Armengol, L; Pujana, MA; Estivill, X; Wilson, MD; Koop, BF; Tosi, S; Moore, GE; Boright, AP; Zlotorynski, E; Kerem, B; Kroisel, PM; Petek, E; Oscier, DG; Mould, SJ; Döhner, H; Döhner, K; Rommens, JM; Vincent, JB; Venter, JC; Li, PW; Mural, RJ; Adams, MD; Tsui, LC Human chromosome 7: DNA sequence and biology.
Science. 2003; 300(5620):767-772 Doi: 10.1126/science.1083423 [OPEN ACCESS]
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** Windpassinger, C; Petek, E; Wagner, K; Langmann, A; Buiting, K; Kroisel, PM Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment.
CLIN GENET. 2003; 63(4): 297-302. Doi: 10.1034/j.1399-0004.2003.00059.x (- Case Report)
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** Windpassinger, C; Wagner, K; Petek, E; Fischer, R; Auer-Grumbach, M Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.
HUM GENET. 2003; 114(1): 99-109. Doi: 10.1007/s00439-003-1021-6
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Short report/Letter

** Petek, E; Jenne, DE; Smolle, J; Binder, B; Lasinger, W; Windpassinger, C; Wagner, K; Kroisel, PM; Kehrer-Sawatzki, H Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.
J Med Genet. 2003; 40(7):520-525 Doi: 10.1136/jmg.40.7.520 (- Case Report) [OPEN ACCESS]
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** Petek, E; Plecko-Startinig, B; Windpassinger, C; Egger, H; Wagner, K; Kroisel, PM Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.
J Med Genet. 2003; 40(4):e47-e47 Doi: 10.1136/jmg.40.4.e47 (- Case Report) [OPEN ACCESS]
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2002

Full paper/article (Journal)

** Hennerbichler, S; Schmied, R; Petek, E; Kroisel, PM; Pertl, B; Tiran, B; Dohr, G; Wintersteiger, R; Sedlmayr, P Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry.
Cytometry. 2002; 48(2):87-92 Doi: 10.1002/cyto.10112 [OPEN ACCESS]
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** Tschernigg, M; Petek, E; Leonhardtsberger, A; Wagner, K; Kroisel, PM Terminal tandem duplication of 16p: a case with pure partial trisomy (16)(pter-->p13).
Genet Couns. 2002; 13(3):303-307 (- Case Report)
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** Tschernigg, M; Petek, E; Wagner, K; Kroisel, PM Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.
Genet Couns. 2002; 13(1):29-33 (- Case Report)
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** Vincent, JB; Petek, E; Thevarkunnel, S; Kolozsvari, D; Cheung, J; Patel, M; Scherer, SW The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system.
Genomics. 2002; 80(3):283-294 Doi: 10.1006%2Fgeno.2002.6835
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** Windpassinger, C; Kroisel, PM; Wagner, K; Petek, E The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.
Gene. 2002; 292(1-2):25-31 Doi: 10.1016/S0378-1119(02)00649-2
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** Windpassinger, C; Kroisel, PM; Wagner, K; Petek, E Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene.
Cytogenet Genome Res. 2002; 97(3-4):155-157 Doi: 10.1159/000066598
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Short report/Letter

** Kroisel, PM; Wagner, K; Zierler, H; Petek, E Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection.
Prenat Diagn. 2002; 22(3):267-269 Doi: 10.1002/pd.298 (- Case Report)
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Abstract (Journal)

** Emberger, W; Olipitz, W; Sodia, S; Petek, E; Zierler, H; Kroisel, PM; Wagner, K Blast crisis in Philadelphia negative CML: Clinical findings and molecular cytogenetic characterization of a 47,XX,+i(11)(q10) cell line.
EUR J HUMAN GENET 2002 10: 105-106.
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** Hennerbichler, S; Petek, E; Pertl, B; Dohr, G; Wintersteiger, R; Kroisel, P; Sedlmayr, P Applicability of laser scanning cytometry for detection and relocation of fetal erythroblasts in peripheral blood from pregnant women
CYTOMETRY 2002 SUPPL: 99-99.
Web of Science

** Kroisel, PM; Windpassinger, C; Zierler, H; Wagner, K; Petek, E Constitutional microdeletion del(22)(q12.1q12.3) including the NF2 gene region.
EUR J HUMAN GENET 2002 10: 133-133.
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2001

Full paper/article (Journal)

** Cheung, J; Petek, E; Nakabayashi, K; Tsui, LC; Vincent, JB; Scherer, SW Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.
Genomics. 2001; 78(1-2):7-11 Doi: 10.1006/geno.2001.6651
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** Emberger, W; Behmel, A; Tschernigg, M; Seewann, HL; Petek, E; Kroisel, PM; Wagner, K Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;10;22)(q34;q22;q11).
Cancer Genet Cytogenet. 2001; 129(1):76-79 Doi: 10.1016/S0165-4608(01)00417-4 (- Case Report)
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** Kroisel, PM; Petek, E; Emberger, W; Windpassinger, C; Wladika, W; Wagner, K Candidate region for Gilles de la Tourette syndrome at 7q31.
Am J Med Genet. 2001; 101(3):259-261 Doi: 10.1002/1096-8628(20010701)101:3<259::AID-AJMG1374>3.0.CO;2-# (- Case Report)
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** Kroisel, PM; Petek, E; Wagner, K Phenotype of five patients with Greig syndrome and microdeletion of 7p13.
Am J Med Genet. 2001; 102(3):243-249 Doi: 10.1002/ajmg.1443 (- Case Report)
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** Petek, E; Windpassinger, C; Vincent, JB; Cheung, J; Boright, AP; Scherer, SW; Kroisel, PM; Wagner, K Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
Am J Hum Genet. 2001; 68(4):848-858 Doi: 10.1086/319523 (- Case Report) [OPEN ACCESS]
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Short report/Letter

** Petek, E; Köstl, G; Rauter, L; Mutz, I; Wagner, K; Kroisel, PM Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter).
Clin Dysmorphol. 2001; 10(2):151-153 Doi: 10.1097/00019605-200104000-00015 (- Case Report)
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Review

** Emberger, W; Petek, E; Kroisel, PM; Zierler, H; Wagner, K Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.
Am J Med Genet. 2001; 104(4):312-318 Doi: 10.1002/ajmg.10096 (- Case Report)
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Abstract (Journal)

** Vincent, JB; Petek, E; Thevarkunnel, S; Cheung, J; Scherer, SW Analysis of the gene RAY1(FAM4A1/ST7)at a translocation breakpoint region on 7q31.3 in an autism patient reveals a complex multigene system.
AMER J HUM GENET 2001 69: 577-577.
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2000

Full paper/article (Journal)

** Auer-Grumbach, M; Löscher, WN; Wagner, K; Petek, E; Körner, E; Offenbacher, H; Hartung, HP Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
Brain. 2000; 123 ( Pt 8)(8):1612-1623 Doi: 10.1093%2Fbrain%2F123.8.1612 [OPEN ACCESS]
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** Emberger, W; Windpassinger, C; Petek, E; Kroisel, PM; Wagner, K Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping.
Cytogenet Cell Genet. 2000; 89(3-4):281-282 Doi: 10.1159/000015636
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** Petek, E; Köstl, G; Mutz, I; Wagner, K; Kroisel, PM Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH.
Clin Dysmorphol. 2000; 9(1):55-57 Doi: 10.1097/00019605-200009010-00011 (- Case Report)
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** Petek, E; Wagner, K; Steiner, H; Schaffer, H; Kroisel, PM Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation.
Prenat Diagn. 2000; 20(4):349-352 Doi: 10.1002/(SICI)1097-0223(200004)20:4<349::AID-PD808>3.0.CO;2-B (- Case Report)
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** Petek, E; Windpassinger, C; Egger, H; Kroisel, PM; Wagner, K Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation.
Cytogenet Cell Genet. 2000; 89(3-4):141-142 Doi: 10.1159/000015594
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Short report/Letter

** Emberger, W; Petek, E; Plecko-Starting, B; Kroisel, PM; Zierler, H; Wagner, K A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity.
J Med Genet. 2000; 37(11):892-896 Doi: 10.1136/jmg.37.11.892 (- Case Report) [OPEN ACCESS]
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** Kroisel, PM; Petek, E; Wagner, K; Kurnik, P Complex chromosomal translocation in a patient with Kallmann syndrome.
Am J Med Genet. 2000; 91(3):240-240 Doi: 10.1002/(SICI)1096-8628(20000320)91:3<240::AID-AJMG18>3.0.CO;2-P (- Case Report)
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Comment

** Kroisel, PM; Petek, E; Wagner, K Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q.
J Med Genet. 2000; 37(9):723-725 Doi: 10.1136/jmg.37.9.723 (- Case Report) [OPEN ACCESS]
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1999

Full paper/article (Journal)

** Petek, E; Emberger, W; Kroisel, PM; Wagner, K Assignment of STAC to human chromosome band 3p22.3 between D3S3718 and D3S1611.
Cytogenet Cell Genet. 1999; 84(3-4):184-185 Doi: 10.1159/000015252
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** Petek, E; Kroisel, PM; Schuster, M; Zierler, H; Wagner, K Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.
Am J Med Genet. 1999; 84(3):229-232 Doi: 10.1002/(SICI)1096-8628(19990528)84:3<229::AID-AJMG13>3.3.CO;2-K (- Case Report)
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1998

Full paper/article (Journal)

** Petek, E; Kroisel, PM; Wagner, K Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephaly.
Clin Genet. 1998; 54(5):406-412 Doi: 10.1111/j.1399-0004.1998.tb03754.x (- Case Report)
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1997

Full paper/article (Journal)

** Petek, E; Kroisel, PM; Wagner, K Isolation of site-specific insert probes from chimeric YACs.
Biotechniques. 1997; 23(1):72 ,74, 77-72 ,74, 77 Doi: 10.2144/97231bm15 [OPEN ACCESS]
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