Search Results - "RÜSCHENDORF, F"

Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A by Auer, F, Rüschendorf, F, Gombert, M, Husemann, P, Ginzel, S, Izraeli, S, Harit, M, Weintraub, M, Weinstein, O Y, Lerer, I, Stepensky, P, Borkhardt, A, Hauer, J

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Missense mutations of ACTA1 cause dominant congenital myopathy with cores by Kaindl, A M, Rüschendorf, F, Krause, S, Goebel, H-H, Koehler, K, Becker, C, Pongratz, D, Müller-Höcker, J, Nürnberg, P, Stoltenburg-Didinger, G, Lochmüller, H, Huebner, A

“…PauI restriction digest of the mutated allele releases two fragments of 256 and 116 bp, whereas the wild type allele remains uncut.\n 11, 13 Moreover, cores…”
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A major susceptibility locus for atopic dermatitis maps to chromosome 3q21 by Wahn, Ulrich, Reis, André, Wienker, Thomas, Gustafsson, Dan, Wolkertstorfer, Albert, Lee, Young-Ae, Oranje, Arnold P, Küster, Wolfgang, Kehrt, Rainer, Berg, Andrea v, Tarani, Luigi, Businco, Luisa, Rüschendorf, Franz, Hoffmann, Ute, Andersson, Florence

“…Atopic dermatitis (eczema) is a chronic inflammatory skin disease with onset mainly in early childhood. It is commonly the initial clinical manifestation of…”
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Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13 by Lee, Young-Ae, Rüschendorf, Franz, Windemuth, Christine, Schmitt-Egenolf, Marcus, Stadelmann, Antje, Nürnberg, Gudrun, Ständer, Markward, Wienker, Thomas F., Reis, André, Traupe, Heiko

“…Psoriasis is a common chronic inflammatory skin disease with a strong genetic component. Few psoriasis-susceptibility loci have been reported, and only two…”
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Molecular karyotyping using an SNP array for genomewide genotyping by Rauch, A, Rüschendorf, F, Huang, J, Trautmann, U, Becker, C, Thiel, C, Jones, K W, Reis, A, Nürnberg, P

“…Background: Chromosomal imbalances are a major cause of developmental defects as well as cancer and often constitute the key in identification of novel disease…”
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A genome‐wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3 by Kurz, T., Altmueller, J., Strauch, K., Rüschendorf, F., Heinzmann, A., Moffatt, M. F., Cookson, W. O. C. M., Inacio, F., Nürnberg, P., Stassen, H. H., Deichmann, K. A.

“…Background:  Dissecting complex diseases in underlying distinct traits and studying these for their genetic basis might enhance the power as well as the…”
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Divergent genetic and epigenetic post‐zygotic isolation mechanisms in Mus and Peromyscus by Zechner, U., Shi, W., Hemberger, M., Himmelbauer, H., Otto, S., Orth, A., Kalscheuer, V., Fischer, U., Elango, R., Reis, A., Vogel, W., Ropers, H., Rüschendorf, F., Fundele, R.

“…Interspecific hybridization in the rodent genera Peromyscus and Mus results in abnormal placentation. In the Peromyscus interspecies hybrids, abnormal allelic…”
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Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis by Hensen, P., Asadullah, K., Windemuth, C., Rüschendorf, F., Hüffmeier, U., Ständer, M., Schmitt-Egenolf, M., Wienker, T.F., Reis, A., Traupe, H.

“…Summary  Background The anti‐inflammatory cytokine interleukin (IL)‐10 is considered to play a major role in the pathophysiology of psoriasis, which is…”
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Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree by Omran, Heymut, Fernandez, Carmen, Jung, Martin, Häffner, Karsten, Fargier, Bernardo, Villaquiran, Aminta, Waldherr, Rüdiger, Gretz, Norbert, Brandis, Matthias, Rüschendorf, Franz, Reis, André, Hildebrandt, Friedhelm

“…Nephronophthisis, an autosomal-recessive cystic kidney disease, is the most frequent monogenic cause for renal failure in childhood. Infantile and juvenile…”
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ALOHOMORA: a tool for linkage analysis using 10K SNP array data by Ruschendorf, F., Nurnberg, P.

“…ALOHOMORA is a software tool designed to facilitate genome-wide linkage studies performed with high-density single nucleotide polymorphism (SNP) marker panels…”
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A second large family with catatonic schizophrenia supports the region distally of CHRNA7 on chromosome 15q14-15 by Meyer, J, Rüschendorf, F, Lesch, K P

“…Molecular Psychiatry (2003) 8, 259-260. doi:10.1038/sj.mp.4001222…”
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Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region by Fuchshuber, A., Kroiss, S., Karle, S., Berthold, S., Huck, K., Burton, C., Rahman, N., Koptides, M., Deltas, C., Otto, E., Rüschendorf, F., Feest, T., Hildebrandt, F.

“…Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal…”
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Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes by Immervoll, Thomas, Loesgen, Sabine, Dütsch, Gabriele, Gohlke, Henning, Herbon, Nicole, Klugbauer, Sabine, Dempfle, Astrid, Bickeböller, Heike, Becker-Follmann, Johannes, Rüschendorf, Franz, Saar, Kathrin, Reis, Andre, Wichmann, H.-Erich, Wjst, Matthias

“…Several genome‐wide screens for asthma and related phenotypes have been published to date but data on fine‐mapping are scarce. For higher resolution we…”
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Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march by Marenholz, Ingo, Nickel, Renate, Rüschendorf, Franz, Schulz, Florian, Esparza-Gordillo, Jorge, Kerscher, Tamara, Grüber, Christoph, Lau, Susanne, Worm, Margitta, Keil, Thomas, Kurek, Michael, Zaluga, Elisabetha, Wahn, Ulrich, Lee, Young-Ae

“…Childhood eczema often precedes the development of asthma and allergic rhinitis in the so-called atopic march. Recently, 2 loss-of-function mutations in the…”
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Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci by Hensen, P., Windemuth, C., Hüffmeier, U., Rüschendorf, F., Stadelmann, A., Hoppe, V., Fenneker, D., Ständer, M., Schmitt-Egenolf , M., Wienker, T. F., Traupe, H., Reis, A.

“…:  To follow up the novel psoriasis susceptibility region on chromosome 19 (PSORS6), we performed an association scan for psoriasis vulgaris using 45 evenly…”
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Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27 by van Bokhoven, Hans, Jung, Martin, Smits, Arie P.T., van Beersum, Sylvia, Rüschendorf, Franz, van Steensel, Maurice, Veenstra, Monique, Tuerlings, Joep H.A.M., Mariman, Edwin C.M., Brunner, Han G., Wienker, Thomas F., Reis, Andre, Ropers, Hans-Hilger, Hamel, Ben C.J.

“…We report on a large Dutch family with a syndrome characterized by severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple…”
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Genetic Dissection of X-Linked Interspecific Hybrid Placental Dysplasia in Congenic Mouse Strains by Hemberger, Myriam C, Pearsall, Robert S, Zechner, Ulrich, Orth, Annie, Otto, Sabine, Ruschendorf, Franz, Fundele, Reinald, Elliott, Rosemary

“…Interspecific hybridization in the genus Mus results in male sterility and X-linked placental dysplasia. We have generated several congenic laboratory mouse…”
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Murine susceptibility to Chagas' disease maps to chromosomes 5 and 17 by GRAEFE, S. E. B, MEYER, B. S, MÜLLER-MYHSOK, B, RÜSCHENDORF, F, DROSTEN, C, LAUE, T, STEEG, C, NÜRNBERG, P, FLEISCHER, B

“…Chagas' disease is caused by the protozoan parasite Trypanosoma cruzi and commonly modelled in inbred mice. Susceptibility of mouse strains to experimental…”
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Exclusion of the neuronal nicotinic acetylcholine receptor α7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus by Meyer, J, Ortega, G, Schraut, K, Nurnberg, G, Ruschendorf, F, Saar, K, Mossner, R, Wienker, T F, Reis, A, Stober, G, Lesch, K P

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Exclusion of the neuronal nicotinic acetylcholine receptor α7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus by MEYER, J, ORTEGA, G, LESCH, K. P, SCHRAUT, K, NÜRNBERG, G, RÜSCHENDORF, F, SAAR, K, MÖSSNER, R, WIENKER, T. F, REIS, A, STÖBER, G

“…The gene encoding the neuronal nicotinic acetylcholine receptor α7 subunit (CHRNA7) is located on chromosome 15q13.2. This region was suggested to be involved…”
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