Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing
Schwarzbraun, T, Obenauf, A C, Langmann, A, Gruber-Sedlmayr, U, Wagner, K, Speicher, M R, Kroisel, P M
Published in Journal of medical genetics (01.05.2009)
Published in Journal of medical genetics (01.05.2009)
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Journal Article
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
Petek, E, Jenne, D E, Smolle, J, Binder, B, Lasinger, W, Windpassinger, C, Wagner, K, Kroisel, P M, Kehrer-Sawatzki, H
Published in Journal of medical genetics (01.07.2003)
Published in Journal of medical genetics (01.07.2003)
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Journal Article
Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR
Pertl, B, Weitgasser, U, Kopp, S, Kroisel, P M, Sherlock, J, Adinolfi, M
Published in Human genetics (01.07.1996)
Published in Human genetics (01.07.1996)
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Journal Article
Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex
Pertl, Barbara, Kopp a, Susanne, Kroisel, Peter M., Häusler, Martin, Sherlock, Jon, Winter, Raimund, Adinolfi, Matteo
Published in American journal of obstetrics and gynecology (01.10.1997)
Published in American journal of obstetrics and gynecology (01.10.1997)
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Journal Article
Conference Proceeding
Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples
Pertl, Barbara, Kopp, Susanne, Kroisel, Peter M, Tului, Lucia, Brambati, Bruno, Adinolfi, Matteo
Published in Journal of medical genetics (01.04.1999)
Published in Journal of medical genetics (01.04.1999)
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Journal Article
Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene
Windpassinger, C., Kroisel, P.M., Wagner, K., Petek, E.
Published in Cytogenetic and genome research (01.01.2002)
Published in Cytogenetic and genome research (01.01.2002)
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Journal Article
Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q
KROISEL, PETER MICHAEL, PETEK, ERWIN, WAGNER, KLAUS
Published in Journal of medical genetics (01.09.2000)
Published in Journal of medical genetics (01.09.2000)
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Journal Article
Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease
Kumar-Singh, S, De Jonghe, C, Cruts, M, Kleinert, R, Wang, R, Mercken, M, De Strooper, B, Vanderstichele, H, Löfgren, A, Vanderhoeven, I, Backhovens, H, Vanmechelen, E, Kroisel, P M, Van Broeckhoven, C
Published in Human molecular genetics (01.11.2000)
Published in Human molecular genetics (01.11.2000)
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Journal Article
Disruption of a Novel Gene ( IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome
Petek, Erwin, Windpassinger, Christian, Vincent, John B., Cheung, Joseph, Boright, Andrew P., Scherer, Stephen W., Kroisel, Peter M., Wagner, Klaus
Published in American journal of human genetics (01.04.2001)
Published in American journal of human genetics (01.04.2001)
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Journal Article
Maternal methylation imprints on human chromosome 15 are established during or after fertilization
Walter, Jörn, El-Maarri, Osman, Buiting, Karin, Peery, Edwin G, Kroisel, Peter M, Balaban, Basak, Wagner, Klaus, Urman, Bulent, Heyd, Julia, Lich, Christina, Brannan, Camilynn I, Horsthemke, Bernhard
Published in Nature genetics (01.03.2001)
Published in Nature genetics (01.03.2001)
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A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity
EMBERGER, WERNER, PETEK, ERWIN, PLECKO-STARTINIG, BARBARA, KROISEL, PETER M, ZIERLER, HANNELORE, WAGNER, KLAUS
Published in Journal of medical genetics (01.11.2000)
Published in Journal of medical genetics (01.11.2000)
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SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome
RUNTE, Maren, KROISEL, Peter M, GILLESSEN-KAESBACH, Gabriele, VARON, Raymonda, HORN, Denise, COHEN, Monika Y, WAGSTAFF, Joseph, HORSTHEMKE, Bernhard, BUITING, Karin
Published in Human genetics (01.05.2004)
Published in Human genetics (01.05.2004)
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Journal Article
A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p
Vortkamp, A., Thias, U., Gessler, M., Rosenkranz, W., Kroisel, P.M., Tommerup, N., Krüger, G., Götz, J., Pelz, L., Grzeschik, K.-H.
Published in Genomics (San Diego, Calif.) (01.11.1991)
Published in Genomics (San Diego, Calif.) (01.11.1991)
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