Prof. Dr. André Wiesmann da Silva Reis


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.
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).
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.
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.
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.
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.
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.
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.
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-.
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.

Zuletzt aktualisiert 2016-06-12 um 03:30