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Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
Published in:
EMBO Molecular Medicine, 2016, v. 8, n. 12, p. 1455, doi. 10.15252/emmm.201606623
By:
- Montalbano, Antonino;
- Juergensen, Lonny;
- Roeth, Ralph;
- Weiss, Birgit;
- Fukami, Maki;
- Fricke‐Otto, Susanne;
- Binder, Gerhard;
- Ogata, Tsutomu;
- Decker, Eva;
- Nuernberg, Gudrun;
- Hassel, David;
- Rappold, Gudrun A
Publication type:
Article
Investigation of SHANK3 in schizophrenia.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 4, p. 390, doi. 10.1002/ajmg.b.32528
By:
- de Sena Cortabitarte, Ana;
- Degenhardt, Franziska;
- Strohmaier, Jana;
- Lang, Maren;
- Weiss, Birgit;
- Roeth, Ralph;
- Giegling, Ina;
- Heilmann‐Heimbach, Stefanie;
- Hofmann, Andrea;
- Rujescu, Dan;
- Fischer, Christine;
- Rietschel, Marcella;
- Nöthen, Markus M.;
- Rappold, Gudrun A.;
- Berkel, Simone
Publication type:
Article
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Published in:
Nature Genetics, 2010, v. 42, n. 6, p. 489, doi. 10.1038/ng.589
By:
- Berkel, Simone;
- Marshall, Christian R.;
- Weiss, Birgit;
- Howe, Jennifer;
- Roeth, Ralph;
- Moog, Ute;
- Endris, Volker;
- Roberts, Wendy;
- Szatmari, Peter;
- Pinto, Dalila;
- Bonin, Michael;
- Riess, Angelika;
- Engels, Hartmut;
- Sprengel, Rolf;
- Scherer, Stephen W.;
- Rappold, Gudrun A.
Publication type:
Article
Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome.
Published in:
Human Genetics, 2004, v. 114, n. 2, p. 173, doi. 10.1007/s00439-003-1028-z
By:
- Kirsch, Stefan;
- Weiss, Birgit;
- Zumbach, Klaus;
- Rappold, Gudrun
Publication type:
Article
Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation.
Published in:
Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00648
By:
- Hoffmann, Sandra;
- Paone, Christoph;
- Sumer, Simon A.;
- Diebold, Sabrina;
- Weiss, Birgit;
- Roeth, Ralph;
- Clauss, Sebastian;
- Klier, Ina;
- Kääb, Stefan;
- Schulz, Andreas;
- Wild, Philipp S.;
- Ghrib, Adil;
- Zeller, Tanja;
- Schnabel, Renate B.;
- Just, Steffen;
- Rappold, Gudrun A.
Publication type:
Article
Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
Published in:
Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.660731
By:
- Weiss, Birgit;
- Eberle, Birgit;
- Roeth, Ralph;
- de Bruin, Christiaan;
- Lui, Julian C.;
- Paramasivam, Nagarajan;
- Hinderhofer, Katrin;
- van Duyvenvoorde, Hermine A.;
- Baron, Jeffrey;
- Wit, Jan M.;
- Rappold, Gudrun A.
Publication type:
Article
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
Published in:
Hormone Research in Paediatrics, 2020, v. 93, n. 1, p. 16, doi. 10.1159/000507114
By:
- Choukair, Daniela;
- Eberle, Birgit;
- Vick, Philipp;
- Hermanns, Pia;
- Weiss, Birgit;
- Paramasivam, Nagarajan;
- Schlesner, Matthias;
- Lornsen, Katharina;
- Roeth, Ralph;
- Klutmann, Carina;
- Kreis, Jennifer;
- Hoffmann, Georg F.;
- Pohlenz, Joachim;
- Rappold, Gudrun A.;
- Bettendorf, Markus
Publication type:
Article
Expression of Apolipoprotein A-I in Porcine Brain Endothelium In Vitro.
Published in:
Journal of Neurochemistry, 1994, v. 62, n. 2, p. 788, doi. 10.1046/j.1471-4159.1994.62020788.x
By:
- Möckel, Babette;
- Zinke, Holger;
- Flach, Regina;
- Weiß, Birgit;
- Weiler-Güttler, Hartmut;
- Gassen, Hans G.
Publication type:
Article
BNP is a transcriptional target of the short stature homeobox gene SHOX.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 24, p. 3081, doi. 10.1093/hmg/ddm266
By:
- Marchini, Antonio;
- Häcker, Beate;
- Marttila, Tiina;
- Hesse, Volker;
- Emons, Joyce;
- Weiss, Birgit;
- Karperien, Marcel;
- Rappold, Gudrun
Publication type:
Article
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 2, p. 210
By:
- Sabherwal, Nitin;
- Bangs, Fiona;
- Röth, Ralph;
- Weiss, Birgit;
- Jantz, Karin;
- Tiecke, Eva;
- Hinkel, Georg K.;
- Spaich, Christiane;
- Hauffa, Berthold P.;
- van der Kamp, Hetty;
- Kapeller, Johannes;
- Tickle, Cheryll;
- Rappold, Gudrun
Publication type:
Article
Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.
Published in:
Genes, 2021, v. 12, n. 12, p. 1862, doi. 10.3390/genes12121862
By:
- Vick, Philipp;
- Eberle, Birgit;
- Choukair, Daniela;
- Weiss, Birgit;
- Roeth, Ralph;
- Schneider, Isabelle;
- Paramasivam, Nagarajan;
- Bettendorf, Markus;
- Rappold, Gudrun A.
Publication type:
Article
Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation.
Published in:
Basic Research in Cardiology, 2016, v. 111, n. 3, p. 36, doi. 10.1007/s00395-016-0557-2
By:
- Hoffmann, Sandra;
- Clauss, Sebastian;
- Berger, Ina M.;
- Weiß, Birgit;
- Montalbano, Antonino;
- Röth, Ralph;
- Bucher, Madeline;
- Klier, Ina;
- Wakili, Reza;
- Seitz, Hervé;
- Schulze-Bahr, Eric;
- Katus, Hugo A.;
- Flachsbart, Friederike;
- Nebel, Almut;
- Guenther, Sabina P. W.;
- Bagaev, Erik;
- Rottbauer, Wolfgang;
- Kääb, Stefan;
- Just, Steffen;
- Rappold, Gudrun A.
Publication type:
Article

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