Detailed screening for fetal anomalies and cardiac defects at the 11–13‐week scan von Becker, R., Wegner, R.‐D.

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Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families von 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

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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 von Stumm, M., Neubauer, S., Keindorff, S., Wegner, R.-D., Wieacker, P., Sauer, R.

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Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics von Stumm, M., Wegner, R.-D., Bloechle, M., Eckel, H.

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Dystocia and Fetotomy Associated with Cerebral Aplasia in a Greater One-horned Rhinoceros (Rhinoceros unicornis) von Schaftenaar, W, Fernandes, T, Fritsch, G, Frey, R, Szentiks, CA, Wegner, R.D, Hildebrandt, TB, Hermes, R

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Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics von Tönnies, H., Stumm, M., Wegner, R.-D., Chudoba, I., Kalscheuer, V., Neitzel, H.

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First-Trimester Prenatal Diagnosis of Okihiro Syndrome von Becker, R., Horn, D., Knoll, U., Stumm, M., Wegner, R.D., Peters, H., Sarioglu, N.

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A mixture model of nuchal translucency thickness in screening for chromosomal defects: validation of a single operator dataset von Gasiorek-Wiens, A., Kotsis, S., Staboulidou, I., Stumm, M., Wegner, R. D., Soergel, P., Schippert, C., von Kaisenberg, C. S.

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Predominance of Null Mutations in Ataxia-Telangiectasia von 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

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Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature von Becker, R., Schmitz, L., Guschmann, M., Wegner, R.‐D., Stiemer, B., Entezami, M.

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Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain von 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

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Classification of Fanconi Anemia Patients by Complementation Analysis: Evidence for a Fifth Genetic Subtype von 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

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Genomic chondrocyte culture profiling by array-CGH, interphase-FISH and RT-PCR von Stumm, M, Boger, E, Gaissmaier, C.G, Oßwald, C, Blankenburg, M, Wegner, R.D, Mollenhauer, J.A

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Characterization of cell cycle checkpoint responses after ionizing radiation in Nijmegen breakage syndrome cells von YAMAZAKI, V, WEGNER, R.-D, KIRCHGESSNER, C. U

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Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus von Becker, R, Wegner, R-D, Kunze, J, Runkel, S, Vogel, M, Entezami, M

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Epignathus: always a simple teratoma? Report of an exceptional case with two additional fetiforme bodies von Sarioglu, N., Wegner, R. D., Gasiorek‐Wiens, A., Entezami, M., Schmock, J., Hagen, A., Becker, R.

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The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21 von SAAR, K, CHRZANOWSKA, K. H, STUMM, M, JUNG, M, NÜRNBERG, G, WIENKER, T. F, SEEMANOVA, E, WEGNER, R.-D, REIS, A, SPERLING, K

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DNA, FISH and complementation studies in ICF syndrome : DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor von SCHUFFENHAUER, S, BARTSCH, O, STUMM, M, BUCHHOLZ, T, PETROPOULOU, T, KRAFT, S, BELOHRADSKY, B, HINKEL, G. K, MEITINGER, T, WEGNER, R.-D

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Pallister-Killian Syndrome: Rare Phenotypic Features and Variable Karyotypes von Liehr, T, Wegner, R-D, Stumm, M, Joksić, G, Polityko, A, Kosyakova, N, Ewers, E, Reich, D, Wagner, R, Weise, A

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The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p von 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

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