Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families
Sandoval, Natalia, Platzer, Matthias, Rosenthal, André, Dörk, Thilo, Bendix, Regina, Skawran, Britta, Stuhrmann, Manfred, Wegner, Rolf-Dieter, Sperling, Karl, Banin, Sharon, Shiloh, Yosef, Baumer, Alessandra, Bernthaler, Ulrike, Sennefelder, Helga, Brohm, Monika, Weber, Bernhard H. F., Schindler, Detlev
Published in Human molecular genetics (01.01.1999)
Published in Human molecular genetics (01.01.1999)
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Journal Article
The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age
Hagen, A, Entezami, M, Gasiorek-Wiens, A, Albig, M, Becker, R, Knoll, U, Stumm, M, Wegner, R-D
Published in Ultraschall in der Medizin (01.06.2011)
Published in Ultraschall in der Medizin (01.06.2011)
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High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome
Stumm, M., Neubauer, S., Keindorff, S., Wegner, R.-D., Wieacker, P., Sauer, R.
Published in Cytogenetic and genome research (01.01.2001)
Published in Cytogenetic and genome research (01.01.2001)
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Journal Article
Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics
Stumm, M., Wegner, R.-D., Bloechle, M., Eckel, H.
Published in Cytogenetic and genome research (01.08.2006)
Published in Cytogenetic and genome research (01.08.2006)
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Journal Article
Dystocia and Fetotomy Associated with Cerebral Aplasia in a Greater One-horned Rhinoceros (Rhinoceros unicornis)
Schaftenaar, W, Fernandes, T, Fritsch, G, Frey, R, Szentiks, CA, Wegner, R.D, Hildebrandt, TB, Hermes, R
Published in Reproduction in domestic animals (01.02.2011)
Published in Reproduction in domestic animals (01.02.2011)
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Journal Article
A mixture model of nuchal translucency thickness in screening for chromosomal defects: validation of a single operator dataset
Gasiorek-Wiens, A., Kotsis, S., Staboulidou, I., Stumm, M., Wegner, R. D., Soergel, P., Schippert, C., von Kaisenberg, C. S.
Published in Prenatal diagnosis (01.11.2010)
Published in Prenatal diagnosis (01.11.2010)
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Journal Article
Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics
Tönnies, H., Stumm, M., Wegner, R.-D., Chudoba, I., Kalscheuer, V., Neitzel, H.
Published in Cytogenetic and genome research (01.01.2001)
Published in Cytogenetic and genome research (01.01.2001)
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Journal Article
Conference Proceeding
First-Trimester Prenatal Diagnosis of Okihiro Syndrome
Becker, R., Horn, D., Knoll, U., Stumm, M., Wegner, R.D., Peters, H., Sarioglu, N.
Published in Fetal diagnosis and therapy (01.01.2010)
Published in Fetal diagnosis and therapy (01.01.2010)
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Journal Article
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain
NOTHWANG, Hans Gerd, KIM, H. G, ARAI, H, TOMMERUP, N, ROPERS, H. H, WIRTH, J, AOKI, J, GEISTERFER, M, KÜBART, S, WEGNER, R. D, VAN MOERS, A, ASHWORTH, L. K, HAAF, T, BELL, J
Published in Human molecular genetics (01.04.2001)
Published in Human molecular genetics (01.04.2001)
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Journal Article
Predominance of Null Mutations in Ataxia-Telangiectasia
Gilad, Shlomit, Khosravi, Rami, Shkedy, Dganit, Uziel, Tamar, Ziv, Yael, Savitsky, Kinneret, Rotman, Galit, Smith, Sara, Chessa, Luciana, Jorgensen, Timothy J., Harnik, Reli, Frydman, Moshe, Sanal, Ozden, Portnoi, Sima, Goldwicz, Zipora, Jaspers, N. G. J., Gatti, Richard A., Lenoir, Gilbert, Lavin, Martin F., Tatsumi, Kouichi, Wegner, Rolf D., Shiloh, Yosef, Bar-Shira, Anat
Published in Human molecular genetics (01.04.1996)
Published in Human molecular genetics (01.04.1996)
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Journal Article
Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus
Becker, R, Wegner, R-D, Kunze, J, Runkel, S, Vogel, M, Entezami, M
Published in Clinical genetics (01.02.2000)
Published in Clinical genetics (01.02.2000)
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Journal Article
Classification of Fanconi Anemia Patients by Complementation Analysis: Evidence for a Fifth Genetic Subtype
Joenje, Hans, Foe, Jerome R.Lo Ten, Oostra, Anneke B., Berkel, Carola G.M. van, Rooimans, Martin A., Schroeder-Kurth, Traute, Wegner, Rolf-Dieter, Gille, Johan J.P., Buchwald, Manuel, Arwert, Fre
Published in Blood (15.09.1995)
Published in Blood (15.09.1995)
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Journal Article
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
SAAR, K, CHRZANOWSKA, K. H, STUMM, M, JUNG, M, NÜRNBERG, G, WIENKER, T. F, SEEMANOVA, E, WEGNER, R.-D, REIS, A, SPERLING, K
Published in American journal of human genetics (01.03.1997)
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Published in American journal of human genetics (01.03.1997)
Journal Article
DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor
Schuffenhauer, S, Bartsch, O, Stumm, M, Buchholz, T, Petropoulou, T, Kraft, S, Belohradsky, B, Hinkel, G K, Meitinger, T, Wegner, R D
Published in Human genetics (01.11.1995)
Published in Human genetics (01.11.1995)
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Journal Article
Genomic chondrocyte culture profiling by array-CGH, interphase-FISH and RT-PCR
Stumm, M, Boger, E, Gaissmaier, C.G, Oßwald, C, Blankenburg, M, Wegner, R.D, Mollenhauer, J.A
Published in Osteoarthritis and cartilage (01.09.2012)
Published in Osteoarthritis and cartilage (01.09.2012)
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Journal Article
PARTIAL TRISOMY/MONOSOMY 6q IN FETAL CELLS AND CVS LONG-TERM CULTURE NOT PRESENT IN CVS SHORT-TERM CULTURE
WEGNER, R.-D., SCHRÖCK, E., OBLADEN, M., BECKER, R., STUMM, M., SPERLING, K.
Published in Prenatal diagnosis (01.08.1996)
Published in Prenatal diagnosis (01.08.1996)
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Journal Article
The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p
Waisfisz, Quinten, Altay, Cigdem, Leegwater, Peter A., de Winter, Johan P., Komatsu, Kenshi, Evans, Gareth R., Wegner, Rolf-Dieter, Reis, André, Joenje, Hans, Arwert, Fré, Mathew, Christopher G., Pronk, Jan C., Saar, Kathrin, Morgan, Neil V., Digweed, Martin
Published in American journal of human genetics (01.05.1999)
Published in American journal of human genetics (01.05.1999)
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