Found: 11

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  • 47 patients with FLNA associated periventricular nodular heterotopia.

    Published in:
    2015
    By:
    • Lange, Max;
    • Kasper, Burkhard;
    • Bohring, Axel;
    • Rutsch, Frank;
    • Kluger, Gerhard;
    • Hoffjan, Sabine;
    • Spranger, Stephanie;
    • Behnecke, Anne;
    • Ferbert, Andreas;
    • Hahn, Andreas;
    • Oehl-Jaschkowitz, Barbara;
    • Graul-Neumann, Luitgard;
    • Diepold, Katharina;
    • Schreyer, Isolde;
    • Bernhard, Matthias K.;
    • Mueller, Franziska;
    • Siebers-Renelt, Ulrike;
    • Beleza-Meireles, Ana;
    • Uyanik, Goekhan;
    • Janssens, Sandra
    Publication type:
    journal article

  • Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1739, doi. 10.1002/ajmg.a.38267
    By:
    • Wade, Emma M.;
    • Jenkins, Zandra A.;
    • Daniel, Philip B.;
    • Morgan, Tim;
    • Addor, Marie C.;
    • Adés, Lesley C.;
    • Bertola, Debora;
    • Bohring, Axel;
    • Carter, Erin;
    • Cho, Tae‐Joon;
    • de Geus, Christa M.;
    • Duba, Hans‐Christoph;
    • Fletcher, Elaine;
    • Hadzsiev, Kinga;
    • Hennekam, Raoul C. M.;
    • Kim, Chong A.;
    • Krakow, Deborah;
    • Morava, Eva;
    • Neuhann, Teresa;
    • Sillence, David
    Publication type:
    Article

  • Novel genetic findings.

    Published in:
    2012
    By:
    • Bohring, Axel
    Publication type:
    Abstract

  • Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

    Published in:
    Nature Genetics, 2009, v. 41, n. 1, p. 95, doi. 10.1038/ng.270
    By:
    • Jenkins, Zandra A.;
    • van Kogelenberg, Margriet;
    • Morgan, Tim;
    • Jeffs, Aaron;
    • Fukuzawa, Ryuji;
    • Pearl, Esther;
    • Thaller, Christina;
    • Hing, Anne V.;
    • Porteous, Mary E.;
    • Garcia-Miñaur, Sixto;
    • Bohring, Axel;
    • Lacombe, Didier;
    • Stewart, Fiona;
    • Fiskerstrand, Torunn;
    • Bindoff, Laurence;
    • Berland, Siren;
    • Adès, Lesley C.;
    • Tchan, Michel;
    • David, Albert;
    • Wilson, Louise C.
    Publication type:
    Article

  • Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome.

    Published in:
    Biomolecules (2218-273X), 2021, v. 11, n. 2, p. 149, doi. 10.3390/biom11020149
    By:
    • Stock, Friedrich;
    • Hanisch, Marcel;
    • Lechner, Sarah;
    • Biskup, Saskia;
    • Bohring, Axel;
    • Zschocke, Johannes;
    • Kapferer-Seebacher, Ines
    Publication type:
    Article

  • New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas.

    Published in:
    Annals of Human Genetics, 2009, v. 73, n. 3, p. 283, doi. 10.1111/j.1469-1809.2009.00508.x
    By:
    • Heinritz, Wolfram;
    • Hüffmeier, Ulrike;
    • Strenge, Sibylle;
    • Miterski, Bianca;
    • Zweier, Christiane;
    • Leinung, Steffen;
    • Bohring, Axel;
    • Mitulla, Beate;
    • Peters, Usha;
    • Froster, Ursula G.
    Publication type:
    Article

  • ANKRD11 variants: KBG syndrome and beyond.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 2, p. 187, doi. 10.1111/cge.13977
    By:
    • Parenti, Ilaria;
    • Mallozzi, Mark B.;
    • Hüning, Irina;
    • Gervasini, Cristina;
    • Kuechler, Alma;
    • Agolini, Emanuele;
    • Albrecht, Beate;
    • Baquero‐Montoya, Carolina;
    • Bohring, Axel;
    • Bramswig, Nuria C.;
    • Busche, Andreas;
    • Dalski, Andreas;
    • Guo, Yiran;
    • Hanker, Britta;
    • Hellenbroich, Yorck;
    • Horn, Denise;
    • Innes, A. Micheil;
    • Leoni, Chiara;
    • Li, Yun R.;
    • Lynch, Sally Ann
    Publication type:
    Article

  • The male phenotype in osteopathia striata congenita with cranial sclerosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2397, doi. 10.1002/ajmg.a.34178
    By:
    • Holman, Sarah K.;
    • Daniel, Phil;
    • Jenkins, Zandra A.;
    • Herron, Rachel L.;
    • Morgan, Tim;
    • Savarirayan, Ravi;
    • Chow, C.W.;
    • Bohring, Axel;
    • Mosel, Annette;
    • Lacombe, Didier;
    • Steiner, Bernhard;
    • Schmitt-Mechelke, Thomas;
    • Schroter, Barbara;
    • Raas-Rothschild, Annick;
    • Miñaur, Sixto Garcia;
    • Porteous, Mary;
    • Parker, Michael;
    • Quarrell, Oliver;
    • Tapon, Dagmar;
    • Cormier-Daire, Valérie
    Publication type:
    Article

  • Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

    Published in:
    Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9496
    By:
    • Frank, Valeska;
    • Ortiz Brüchle, Nadina;
    • Mager, Silke;
    • Frints, Susanna G. M.;
    • Bohring, Axel;
    • du Bois, Gabriele;
    • Debatin, Irmgard;
    • Seidel, Heide;
    • Senderek, Jan;
    • Besbas, Nesrin;
    • Todt, Unda;
    • Kubisch, Christian;
    • Grimm, Tiemo;
    • Teksen, Fulya;
    • Balci, Sevim;
    • Zerres, Klaus;
    • Bergmann, Carsten
    Publication type:
    Article

  • A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss.

    Published in:
    Human Molecular Genetics, 2007, v. 16, n. 5, p. 573, doi. 10.1093/hmg/ddm017
    By:
    • Bogdanova, Nadia;
    • Horst, Jürgen;
    • Chlystun, Marcin;
    • Croucher, Peter J.P.;
    • Nebel, Almut;
    • Bohring, Axel;
    • Todorova, Albena;
    • Schreiber, Stefan;
    • Gerke, Volker;
    • Krawczak, Michael;
    • Markoff, Arseni
    Publication type:
    Article

  • Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease.

    Published in:
    Neurogenetics, 2007, v. 8, n. 4, p. 279, doi. 10.1007/s10048-007-0096-y
    By:
    • Hehr, Ute;
    • Uyanik, Goekhan;
    • Gross, Claudia;
    • Walter, Maggie;
    • Bohring, Axel;
    • Cohen, Monika;
    • Oehl-Jaschkowitz, Barbara;
    • Bird, Lynne;
    • Shamdeen, Ghiat;
    • Bogdahn, Ulrich;
    • Schuierer, Gerhard;
    • Topaloglu, Haluk;
    • Aigner, Ludwig;
    • Lochmüller, Hanns;
    • Winkler, Jürgen
    Publication type:
    Article