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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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
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
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
Hebebrand, M., Hüffmeier, U., Trollmann, R., Hehr, U., Uebe, S., Ekici, A.B.,... Popp, B. (2019). The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet Journal of Rare Diseases, 14. https://dx.doi.org/10.1186/s13023-019-1020-x
Hebebrand, M., Vasileiou, G., Krumbiegel, M., Kraus, C., Uebe, S., Ekici, A.B.,... Popp, B. (2018). A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. American Journal of Medical Genetics Part A. https://dx.doi.org/10.1002/ajmg.a.60679
Hoyer, J., Vasileiou, G., Uebe, S., Wunderle, M., Kraus, C., Fasching, P.,... Reis, A. (2018). Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria. BMC Cancer, 18(1). https://dx.doi.org/10.1186/s12885-018-4821-8
Knaup, K.X., Hackenbeck, T., Popp, B., Stoeckert, J., Wenzel, A., Büttner-Herold, M.,... Wiesener, M.S. (2018). Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. Journal of the American Society of Nephrology. https://dx.doi.org/10.1681/ASN.2018030245
Graul-Neumann, L.M., Mensah, M.A., Klopocki, E., Uebe, S., Ekici, A.B., Thiel, C.T.,... Zweier, C. (2018). Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome. European Journal of Medical Genetics, 61(7), 363-368. https://dx.doi.org/10.1016/j.ejmg.2018.01.016
Wunderle, M., Gaß, P., Häberle, L., Flesch, V.M., Rauh, C., Bani, M.,... Hein, A. (2018). BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients. Breast Cancer Research and Treatment, 171(1), 85-94. https://dx.doi.org/10.1007/s10549-018-4797-8
Blok, L.S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H.,... Campeau, P.M. (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1). https://dx.doi.org/10.1038/s41467-018-06014-6

Zuletzt aktualisiert 2016-06-12 um 03:30