Prof. Dr. André Wiesmann da Silva Reis



Organisationseinheit


Lehrstuhl für Humangenetik


Preise / Auszeichnungen


2007 : Mitgliedschaft Nationale Akademie der Wissenschaften Leopoldina
2006 : Mitgliedschaft Akademie der Wissenschaften und der Literatur Mainz


Mitarbeit in Forschungsprojekten


Bio-Objects and Bio-Subjects. Exploring the Interface of Science, Technology and Society
Prof. Dr. Peter Dabrock
(01.01.2012 - 31.12.2014)


Publikationen (Download BibTeX)

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Löhr, S., Ekici, A.B., Uebe, S., Büttner, C., Köhm, M., Behrens, F.,... Hüffmeier, U. (2019). Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants. Rheumatology, 58(5), 915-917. https://dx.doi.org/10.1093/rheumatology/key448
Popp, B., Agaimy, A., Kraus, C., Knaup, K.X., Ekici, A.B., Uebe, S.,... Zweier, C. (2019). Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability. BMC Cancer, 19(1). https://dx.doi.org/10.1186/s12885-019-5633-1
Cameron, J.M., Maljevic, S., Nair, U., Aung, Y.H., Cogne, B., Bezieau, S.,... Berkovic, S.F. (2019). Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. Annals of Clinical and Translational Neurology. https://dx.doi.org/10.1002/acn3.50822
Hauer, N., Popp, B., Taher, L., Vogl, C., Dhandapany, P.S., Büttner, C.,... Thiel, C. (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. European journal of human genetics. https://dx.doi.org/10.1038/s41431-019-0362-0
Jitschin, R., Böttcher, M., Saul, D., Lukassen, S., Bruns, H., Loschinski, R.,... Mougiakakos, D. (2019). Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation. Leukemia. https://dx.doi.org/10.1038/s41375-018-0376-6
Iqbal, Z., Tawamie, H., Ba, W., Reis, A., Halak, B.A., Sticht, H.,... Abou Jamra, R. (2019). Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. Genetics in Medicine. https://dx.doi.org/10.1038/s41436-018-0415-8
Fazzini, F., Lamina, C., Fendt, L., Schultheiss, U.T., Kotsis, F., Hicks, A.A.,... Nadal, J. (2019). Mitochondrial DNA copy number is associated with mortality and infections in a large cohort of patients with chronic kidney disease. Kidney International. https://dx.doi.org/10.1016/j.kint.2019.04.021
Gong, B., Zhang, H., Huang, L., Chen, Y., Shi, Y., Tam, P.O.S.,... Yang, Z. (2019). Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis. Genetics in Medicine. https://dx.doi.org/10.1038/s41436-019-0507-0
Tiosano, D., Baris, H.N., Chen, A., Hitzert, M.M., Schüler, M., Gulluni, F.,... Buchner, D.A. (2019). Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. PLoS Genetics, 15(4), e1008088-. https://dx.doi.org/10.1371/journal.pgen.1008088
Siggs, O.M., Souzeau, E., Pasutto, F., Dubowsky, A., Smith, J.E.H., Taranath, D.,... Craig, J.E. (2019). Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma. JAMA Ophthalmology, 137(4), 348-355. https://dx.doi.org/10.1001/jamaophthalmol.2018.5646

Zuletzt aktualisiert 2016-06-12 um 03:30