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Basic Research in Cardiology|March 5, 2013
Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardiaSandra Hoffmann, Ina M Berger, Anne Glaser, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 25, 2004
Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patientsBernd Frank, Beate Niesler, Markus M Nöthen, et al.
Human Mutation|June 3, 2005
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosisKatja U Schneider, Antonio Marchini, Nitin Sabherwal, et al.
Human Molecular Genetics|September 23, 2010
Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heartSandra Puskaric, Stefanie Schmitteckert, Alessandro D Mori, et al.
Genome Research|January 18, 2005
Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosomeStefan Kirsch, Birgit Weiss, Tracie L Miner, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 16, 2019
Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1+/- miceHenning Fröhlich, Marie Luise Kollmeyer, Valerie Catherine Linz, et al.
Circulation|November 26, 2003
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries)Nadja Muncke, Christine Jung, Heinz Rüdiger, et al.
European Journal of Human Genetics : EJHG|April 19, 2007
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndromeJohannes G Dauwerse, Bert B A de Vries, Cokkie H Wouters, et al.
European Journal of Human Genetics : EJHG|May 8, 2014
Genome-wide UPD screening in patients with intellectual disabilityChristopher Schroeder, Arif Bülent Ekici, Ute Moog, et al.
The Journal of Clinical Endocrinology and Metabolism|May 31, 2013
GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trialWerner F Blum, Judith L Ross, Alan G Zimmermann, et al.
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