Search Results - "Kijas, Zofia"

Mapping translocation breakpoints by next-generation sequencing by Chen, Wei, Kalscheuer, Vera, Tzschach, Andreas, Menzel, Corinna, Ullmann, Reinhard, Schulz, Marcel Holger, Erdogan, Fikret, Li, Na, Kijas, Zofia, Arkesteijn, Ger, Pajares, Isidora Lopez, Goetz-Sothmann, Margret, Heinrich, Uwe, Rost, Imma, Dufke, Andreas, Grasshoff, Ute, Glaeser, Birgitta, Vingron, Martin, Ropers, H Hilger

“…Balanced chromosome rearrangements (BCRs) can cause genetic diseases by disrupting or inactivating specific genes, and the characterization of breakpoints in…”
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Evaluation of the IRF-2 Gene as a Candidate for PSORS3 by Foerster, John, Nolte, Ilja, Schweiger, Susann, Ehlert, Claudia, Bruinenberg, Marcel, Spaar, Katja, van der Steege, Gerrit, Mulder, Marcel, Kalscheuer, Vera, Moser, Bettina, Kijas, Zofia, Seeman, Petra, Ständer, Markward, Sterry, Wolfram, te Meerman, Gerard

“…Type 1 interferon can trigger flares of psoriasis. Hypersensitivity to type 1 interferon signaling causes a psoriasis-like skin disease in mice deficient for…”
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Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations by So, Joyce, Suckow, Vanessa, Kijas, Zofia, Kalscheuer, Vera, Moser, Bettina, Winter, Jennifer, Baars, Marieke, Firth, Helen, Lunt, Peter, Hamel, Ben, Meinecke, Peter, Moraine, Claude, Odent, Sylvie, Schinzel, Albert, van der Smagt, J.J., Devriendt, Koen, Albrecht, Beate, Gillessen-Kaesbach, Gabriele, van der Burgt, Ineke, Petrij, Fred, Faivre, Laurence, McGaughran, Julie, McKenzie, Fiona, Opitz, John M., Cox, Timothy, Schweiger, Susann

“…Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate,…”
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Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing by WINTER, Jennifer, LEHMANN, Tanja, SCHNEIDER, Rainer, SCHWEIGER, Susann, KRAUSS, Sybille, TROCKENBACHER, Alexander, KIJAS, Zofia, FOERSTER, John, SUCKOW, Vanessa, YASPO, Marie-Laure, KULOZIK, Andreas, KALSCHEUER, Vera

“…Clinical features of Opitz BBB/G syndrome are confined to defects of the developing ventral midline, whereas the causative gene, MID1, is ubiquitously…”
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Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome by WINTER, Jennifer, LEHMANN, Tanja, ROPERS, Hans-Hilger, SCHWEIGER, Susann, SUCKOW, Vanessa, KIJAS, Zofia, KULOZIK, Andreas, KALSCHEUER, Vera, HAMEL, Ben, DEVRIENDT, Koen, OPITZ, John, LENZNER, Steffen

“…Opitz G/BBB syndrome is a malformation syndrome of the ventral midline mainly characterized by hypertelorism, swallowing difficulties, hypospadias and…”
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