Growth in neurofibromatosis 1 microdeletion patients
Ning, X., Farschtschi, S., Jones, A., Kehrer-Sawatzki, H., Mautner, V.-F., Friedman, J. M.
Published in Clinical genetics (01.03.2016)
Published in Clinical genetics (01.03.2016)
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Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients
Wimmer, K., Yao, S., Claes, K., Kehrer-Sawatzki, H., Tinschert, S., De Raedt, T., Legius, E., Callens, T., Beiglböck, H., Maertens, O., Messiaen, L.
Published in Genes chromosomes & cancer (01.03.2006)
Published in Genes chromosomes & cancer (01.03.2006)
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Journal Article
Cardiac characterization of 16 patients with large NF1 gene deletions
Nguyen, R, Mir, TS, Kluwe, L, Jett, K, Kentsch, M, Mueller, G, Kehrer-Sawatzki, H, Friedman, JM, Mautner, V-F
Published in Clinical genetics (01.10.2013)
Published in Clinical genetics (01.10.2013)
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Journal Article
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
Mautner, V-F, Kluwe, L, Friedrich, R E, Roehl, A C, Bammert, S, Högel, J, Spöri, H, Cooper, D N, Kehrer-Sawatzki, H
Published in Journal of medical genetics (01.09.2010)
Published in Journal of medical genetics (01.09.2010)
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Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 → q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay
Barbi, G., Spaich, Ch, Adolph, S., Rossier, E., Kehrer‐Sawatzki, H.
Published in American journal of medical genetics. Part A (01.02.2005)
Published in American journal of medical genetics. Part A (01.02.2005)
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High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene
Kehrer-Sawatzki, H., Kluwe, L., Sandig, C., Kohn, M., Wimmer, K., Krammer, U., Peyrl, A., Jenne, D.E., Hansmann, I., Mautner, V.-F.
Published in American journal of human genetics (01.09.2004)
Published in American journal of human genetics (01.09.2004)
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Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations
Gläser, B., Shirneshan, K., Bink, K., Wirth, J., Kehrer-Sawatzki, H., Bartz, U., Zoll, B., Bohlander, Stefan K.
Published in American journal of medical genetics. Part A (30.04.2004)
Published in American journal of medical genetics. Part A (30.04.2004)
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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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Recruitment of old genes to new functions: evidences obtained by comparing the orthologues of human XLMR genes in mouse and chicken
Kohn, M., Kehrer-Sawatzki, H., Steinbach, P., Marshall Graves, J.A., Hameister, H.
Published in Cytogenetic and genome research (01.01.2007)
Published in Cytogenetic and genome research (01.01.2007)
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Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour
Fauth, C, Kehrer-Sawatzki, H, Zatkova, A, Machherndl-Spandl, S, Messiaen, L, Amann, G, Hainfellner, J.A, Wimmer, K
Published in European journal of medical genetics (01.11.2009)
Published in European journal of medical genetics (01.11.2009)
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Journal Article
The second case of a t(17;22) in a family with neurofibromatosis type 1 : sequence analysis of the breakpoint regions
KEHRER-SAWATZKI, H, HÄUSSLER, J, KRONE, W, BODE, H, JENNE, D. E, MEHNERT, K. U, TÜMMERS, U, ASSUM, G
Published in Human genetics (01.02.1997)
Published in Human genetics (01.02.1997)
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Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations
Barbi, G, Rossier, E, Vossbeck, S, Hummler, H, Lang, D, Flock, F, Terinde, R, Wirth, J, Vogel, W, Kehrer-Sawatzki, H
Published in Journal of medical genetics (01.02.2002)
Published in Journal of medical genetics (01.02.2002)
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