Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study
Muin, Dana A, Kollmann, Martina, Blatterer, Jasmin, Hoermann, Gregor, Husslein, Peter W, Lafer, Ingrid, Petek, Erwin, Schwarzbraun, Thomas
Published in Scientific reports (24.03.2021)
Published in Scientific reports (24.03.2021)
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Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
Lionel, Anath C, Vaags, Andrea K, Sato, Daisuke, Gazzellone, Matthew J, Mitchell, Elyse B, Chen, Hong Yang, Costain, Gregory, Walker, Susan, Egger, Gerald, Thiruvahindrapuram, Bhooma, Merico, Daniele, Prasad, Aparna, Anagnostou, Evdokia, Fombonne, Eric, Zwaigenbaum, Lonnie, Roberts, Wendy, Szatmari, Peter, Fernandez, Bridget A, Georgieva, Lyudmila, Brzustowicz, Linda M, Roetzer, Katharina, Kaschnitz, Wolfgang, Vincent, John B, Windpassinger, Christian, Marshall, Christian R, Trifiletti, Rosario R, Kirmani, Salman, Kirov, George, Petek, Erwin, Hodge, Jennelle C, Bassett, Anne S, Scherer, Stephen W
Published in Human molecular genetics (15.05.2013)
Published in Human molecular genetics (15.05.2013)
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Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender
Ebner, Thomas, Tritscher, Katja, Mayer, Richard B., Oppelt, Peter, Duba, Hans-Christoph, Maurer, Maria, Schappacher-Tilp, Gudrun, Petek, Erwin, Shebl, Omar
Published in Journal of assisted reproduction and genetics (01.01.2016)
Published in Journal of assisted reproduction and genetics (01.01.2016)
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Journal Article
Characterization of the injection funnel during intracytoplasmic sperm injection reflects cytoplasmic maturity of the oocyte
Krause, Iris, M.Sc, Pohler, Uwe, Ph.D, Grosse, Stefan, Ph.D, Shebl, Omar, M.D, Petek, Erwin, Ph.D., M.D, Chandra, Arvind, M.D, Ebner, Thomas, Ph.D
Published in Fertility and sterility (01.10.2016)
Published in Fertility and sterility (01.10.2016)
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A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family
Muzammal, Muhammad, Ali, Muhammad Zeeshan, Brugger, Beatrice, Blatterer, Jasmin, Ahmad, Safeer, Taj, Sundas, Shah, Syed Khizar, Khan, Saadullah, Enzinger, Christian, Petek, Erwin, Wagner, Klaus, Khan, Muzammil Ahmad, Windpassinger, Christian
Published in Metabolic brain disease (01.01.2022)
Published in Metabolic brain disease (01.01.2022)
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Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families
Egger, Gerald, Roetzer, Katharina M., Noor, Abdul, Lionel, Anath C., Mahmood, Huda, Schwarzbraun, Thomas, Boright, Oliver, Mikhailov, Anna, Marshall, Christian R., Windpassinger, Christian, Petek, Erwin, Scherer, Stephen W., Kaschnitz, Wolfgang, Vincent, John B.
Published in Neurogenetics (01.05.2014)
Published in Neurogenetics (01.05.2014)
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Journal Article
Identification of a novel protein truncating mutation p.Asp98 in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family
Ali, Muhammad Z., Blatterer, Jasmin, Khan, Muzammil A., Schaflinger, Erich, Petek, Erwin, Ahmad, Safeer, Khan, Ejazullah, Windpassinger, Christian
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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Journal Article
Yellow laser acupuncture - A new option for prevention and early intervention of lifestyle-related diseases: A randomized, placebo-controlled trial in volunteers
Litscher, Daniela, Wang, Guangjun, Gaischek, Ingrid, Wang, Lu, Wallner-Liebmann, Sandra, Petek, Erwin
Published in LASER THERAPY (31.03.2015)
Published in LASER THERAPY (31.03.2015)
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MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome
Zung, Amnon, Petek, Erwin, Ben‐Zeev, Bruria, Schwarzbraun, Thomas, Ben‐Yehoshua, Sagi Josefsberg
Published in American journal of medical genetics. Part A (01.10.2011)
Published in American journal of medical genetics. Part A (01.10.2011)
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Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome
Petek, Erwin, Schwarzbraun, Thomas, Noor, Abdul, Patel, Megha, Nakabayashi, Kazuhiko, Choufani, Sanaa, Windpassinger, Christian, Stamenkovic, Mara, Robertson, Mary M, Aschauer, Harald N, Gurling, Hugh M. D, Kroisel, Peter M, Wagner, Klaus, Scherer, Stephen W, Vincent, John B
Published in Molecular genetics and genomics : MGG (01.01.2007)
Published in Molecular genetics and genomics : MGG (01.01.2007)
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The RAY1/ST7 Tumor-Suppressor Locus on Chromosome 7q31 Represents a Complex Multi-transcript System
Vincent, John B., Petek, Erwin, Thevarkunnel, Sandy, Kolozsvari, Debbie, Cheung, Joseph, Patel, Megha, Scherer, Stephen W.
Published in Genomics (San Diego, Calif.) (01.09.2002)
Published in Genomics (San Diego, Calif.) (01.09.2002)
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Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies
Petek, Erwin, Windpassinger, Christian, Simma, Burkhard, Mueller, Thomas, Wagner, Klaus, Kroisel, Peter M
Published in Journal of human genetics (01.06.2003)
Published in Journal of human genetics (01.06.2003)
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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
Schaflinger, Erich, Blatterer, Jasmin, Khan, Aiman Saeed, Kaufmann, Lukas, Auinger, Lisa, Tatrai, Benjamin, Abbasi, Sumra Wajid, Zeeshan Ali, Muhammad, Abbasi, Ansar Ahmad, Al Kaissi, Ali, Petek, Erwin, Wagner, Klaus, Ahmad Khan, Muzammil, Windpassinger, Christian
Published in Gene (30.07.2022)
Published in Gene (30.07.2022)
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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
Shebl, Omar, Sifferlinger, Ida, Habelsberger, Alwin, Oppelt, Peter, Mayer, Richard B., Petek, Erwin, Ebner, Thomas
Published in Acta obstetricia et gynecologica Scandinavica (01.06.2017)
Published in Acta obstetricia et gynecologica Scandinavica (01.06.2017)
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Journal Article
Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
Kaufmann, Lukas, Pilic, Johannes, Auinger, Lisa, Mayer, Anna‐Lena, Blatterer, Jasmin, Semmler‐Bruckner, Johann, Abbas, Safdar, Rehman, Khurram, Ayaz, Muhammad, Graier, Wolfgang F., Malli, Roland, Petek, Erwin, Wagner, Klaus, Al Kaissi, Ali, Khan, Muzammil Ahmad, Windpassinger, Christian
Published in Clinical genetics (01.10.2023)
Published in Clinical genetics (01.10.2023)
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Journal Article
Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL
Bengesser, Susanne A., Reininghaus, Eva Z., Lackner, Nina, Birner, Armin, Fellendorf, Frederike T., Platzer, Martina, Kainzbauer, Nora, Tropper, Bernhard, Hörmanseder, Christa, Queissner, Robert, Kapfhammer, Hans-Peter, Wallner-Liebmann, Sandra J., Fuchs, Robert, Petek, Erwin, Windpassinger, Christian, Schnalzenberger, Mario, Reininghaus, Bernd, Evert, Bernd, Waha, Andreas
Published in The world journal of biological psychiatry (31.10.2018)
Published in The world journal of biological psychiatry (31.10.2018)
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Time-lapse imaging provides further evidence that planar arrangement of blastomeres is highly abnormal
Ebner, Thomas, Höggerl, Alexandra, Oppelt, Peter, Radler, Elisabeth, Enzelsberger, Simon-Hermann, Mayer, Richard B., Petek, Erwin, Shebl, Omar
Published in Archives of gynecology and obstetrics (01.12.2017)
Published in Archives of gynecology and obstetrics (01.12.2017)
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