Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life
Lingen, M., Albers, L., Borchers, M., Haass, S., Gärtner, J., Schröder, S., Goldbeck, L., von Kries, R., Brockmann, K., Zirn, B.
Published in Clinical genetics (01.02.2016)
Published in Clinical genetics (01.02.2016)
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Journal Article
High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany
Frommherz, L., Krause, A., Kopp, J., Hotz, A., Hübner, S., Reimer‐Taschenbrecker, A., Casetti, F., Zirn, B., Fischer, J., Has, C.
Published in Journal of the European Academy of Dermatology and Venereology (01.11.2021)
Published in Journal of the European Academy of Dermatology and Venereology (01.11.2021)
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Journal Article
Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations
Zirn, B., Bernbeck, U., Alt, K., Oeffner, F., Gerhardinger, A., Has, C.
Published in Skin health and disease (01.03.2021)
Published in Skin health and disease (01.03.2021)
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Journal Article
Expression profiling of Wilms tumors reveals new candidate genes for different clinical parameters
Zirn, B., Hartmann, O., Samans, B., Krause, M., Wittmann, S., Mertens, F., Graf, N., Eilers, M., Gessler, M.
Published in International journal of cancer (15.04.2006)
Published in International journal of cancer (15.04.2006)
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Journal Article
Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
Shoukier, M, Klein, N, Auber, B, Wickert, J, Schröder, J, Zoll, B, Burfeind, P, Bartels, I, Alsat, EA, Lingen, M, Grzmil, P, Schulze, S, Keyser, J, Weise, D, Borchers, M, Hobbiebrunken, E, Röbl, M, Gärtner, J, Brockmann, K, Zirn, B
Published in Clinical genetics (01.01.2013)
Published in Clinical genetics (01.01.2013)
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Journal Article
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
Zirn, B, Grundmann, K, Huppke, P, Puthenparampil, J, Wolburg, H, Riess, O, Müller, U
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2008)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2008)
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Journal Article
Frequency of GCH1 deletions in Dopa-responsive dystonia
Zirn, B, Steinberger, D, Troidl, C, Brockmann, K, von der Hagen, M, Feiner, C, Henke, L, Müller, U
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2008)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2008)
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Journal Article
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females
Dreha-Kulaczewski, S., Kalscheuer, V., Tzschach, A., Hu, H., Helms, G., Brockmann, K., Weddige, A., Dechent, P., Schlüter, G., Krätzner, R., Ropers, H.-H., Gärtner, J., Zirn, B.
Published in JIMD Reports - Case and Research Reports, Volume 13 (01.01.2014)
Published in JIMD Reports - Case and Research Reports, Volume 13 (01.01.2014)
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Book Chapter
Journal Article
Phenotypic spectrum associated with CASK loss-of-function mutations
Moog, Ute, Kutsche, Kerstin, Kortüm, Fanny, Chilian, Bettina, Bierhals, Tatjana, Apeshiotis, Neophytos, Balg, Stefanie, Chassaing, Nicolas, Coubes, Christine, Das, Soma, Engels, Hartmut, Van Esch, Hilde, Grasshoff, Ute, Heise, Marisol, Isidor, Bertrand, Jarvis, Joanna, Koehler, Udo, Martin, Thomas, Oehl-Jaschkowitz, Barbara, Ortibus, Els, Pilz, Daniela T, Prabhakar, Prab, Rappold, Gudrun, Rau, Isabella, Rettenberger, Günther, Schlüter, Gregor, Scott, Richard H, Shoukier, Moonef, Wohlleber, Eva, Zirn, Birgit, Dobyns, William B, Uyanik, Gökhan
Published in Journal of medical genetics (01.11.2011)
Published in Journal of medical genetics (01.11.2011)
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Journal Article
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders
Botto, Lorenzo D., Meeths, Marie, Campos‐Xavier, Belinda, Bergamaschi, Rosalba, Mazzanti, Laura, Scarano, Emanuela, Finocchi, Andrea, Cancrini, Caterina, Zirn, Birgit, Kühnle, Ingrid, Kramm, Christof Maria, Alanay, Yasemin, Jones, Wendy D., Irving, Melita, Sabir, Ataf, Henter, Jan‐Inge, Borgström, Birgit, Nordgren, Ann, Hammarsjö, Anna, Putti, Caterina, Mozzato, Chiara, Zuccarello, Daniela, Nishimura, Gen, Bonafè, Luisa, Grigelioniene, Giedre, Unger, Sheila, Superti‐Furga, Andrea
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function
Shoukier, Moneef, Fuchs, Sigrid, Schwaibold, Eva, Lingen, Michael, Gärtner, Jutta, Brockmann, Knut, Zirn, Birgit
Published in Neuropediatrics (01.10.2013)
Published in Neuropediatrics (01.10.2013)
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Journal Article
Target genes of the WNT/β-catenin pathway in Wilms tumors
Zirn, Birgit, Samans, Birgit, Wittmann, Stefanie, Pietsch, Thorsten, Leuschner, Ivo, Graf, Norbert, Gessler, Manfred
Published in Genes chromosomes & cancer (01.06.2006)
Published in Genes chromosomes & cancer (01.06.2006)
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Journal Article
Ring chromosome 22 and neurofibromatosis type II: proof of two hit model for the loss of the NF2 gene in the development of meningioma
Zirn, B, Arning, L, Bartels, I, Shoukier, M, Hoffjan, S, Neubauer, B, Hahn, A
Published in Neuropediatrics (03.04.2012)
Published in Neuropediatrics (03.04.2012)
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Conference Proceeding
Array CGH in children and adolescents with developmental delay or intellectual disability: are there phenotypic clues to clinically relevant chromosomal microaberrations?
Zirn, B, Klein, N, Zoll, B, Burfeind, P, Bartels, I, Grzmil, P, Gärtner, J, Brockmann, K, Shoukier, M
Published in Neuropediatrics (03.04.2012)
Published in Neuropediatrics (03.04.2012)
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Conference Proceeding
Chibby, a novel antagonist of the Wnt pathway, is not involved in Wilms tumor development
Zirn, Birgit, Wittmann, Stefanie, Graf, Norbert, Gessler, Manfred
Published in Cancer letters (18.03.2005)
Published in Cancer letters (18.03.2005)
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Journal Article
A novel homozygous LMNA mutation (R471C) is associated with a complex phenotype combining mandibuloacral dysplasia, rigid spine muscular dystrophy, and progeria
Hahn, A, Kress, W, Grimm, T, Berthold, LD, Neubauer, B, Kuchelmeister, K, Müller, U, Zirn, B
Published in Neuropediatrics (18.06.2008)
Published in Neuropediatrics (18.06.2008)
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Conference Proceeding
Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations
Zirn, B, Bernbeck, U, Alt, K, Oeffner, F, Gerhardinger, A, Has, C
Published in Skin health and disease (01.03.2021)
Published in Skin health and disease (01.03.2021)
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