PuSH - Publication Server of Helmholtz Zentrum München

32 Records found.
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1.
Tedja, M.S.* et al.: IMI - Myopia genetics report. Invest. Ophthalmol. Vis. Sci. 60, M89-M105 (2019)
2.
Zech, M. ; Wagner, M. ; Schormair, B. ; Oexle, K. & Winkelmann, J.: Exomdiagnostik in der Neurologie. Nervenarzt 90, 131-137 (2019)
3.
Oexle, K. & Winkelmann, J.: Common grounds for family maladies. Neuron 98, 671-672 (2018)
5.
Hammerschlag, A.R.* et al.: Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits. Nat. Genet. 49, 1584-1592 (2017)
6.
Pihl, R.* et al.: Analysis of factor D isoforms in Malpuech-Michels-Mingarelli-Carnevale patients highlights the role of MASP-3 as a maturase in the alternative pathway of complement. J. Immunol. 199, 2158-2170 (2017)
7.
Schormair, B. et al.: Identification of novel risk loci for restless legs syndrome: A meta-analysis of genome-wide association studies in individuals of European ancestry: A meta-analysis. Lancet Neurol. 16, 898–907 (2017)
8.
Connor, J.R.* ; Patton, S.M.* ; Oexle, K. & Allen, R.P.*: Iron and restless legs syndrome: Treatment, genetics and pathophysiology. Sleep Med., accepted (2016)
9.
Fan, Q.* et al.: Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nat. Commun. 7:11008 (2016)
10.
Fan, Q.* et al.: Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Sci. Rep. 6:25853 (2016)
11.
Benyamin, B.* et al.: Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nat. Commun. 6:6542 (2015)
12.
Huth, C. et al.: Biomarkers of iron metabolism are independently associated with impaired glucose metabolism and type 2 diabetes: The KORA F4 Study. Eur. J. Endocrinol. 173, 643-653 (2015)
13.
Li, Q.* et al.: Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: The CREAM consortium. Hum. Genet. 134, 131-146 (2015)
14.
von Hundelshausen, P.* et al.: Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome. Thromb. Haemost. 113, 668-670 (2015)
15.
Benyamin, B.* et al.: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nat. Commun. 5:4926 (2014)
16.
Simpson, C.L.* et al.: Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. PLoS ONE 9:e107110 (2014)
17.
Zech, M. et al.: DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family. Mov. Disord. 29, 1504-1510 (2014)
18.
Cheng, C.Y.* et al.: Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am. J. Hum. Genet. 93, 264-277 (2013)
19.
Oexle, K.* et al.: Dilution of candidates: The case of iron-related genes in restless legs syndrome. Eur. J. Hum. Genet. 21, 410-414 (2013)
20.
Salem, N.J.M.* et al.: Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. Am. J. Med. Genet. A 161, 1421-1424 (2013)