Prof. Dr. Christiane Zweier



Organisationseinheit


Medizinische Fakultät


Publikationen (Download BibTeX)

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Jung, M., Häberle, B., Tschaikowsky, T., Wittmann, M.-T., Balta, E.-A., Stadler, V.-C.,... Lie, D.C. (2018). Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons. Molecular Autism , 9. https://dx.doi.org/10.1186/s13229-018-0200-1
Johnston, J.J., Van Der Smagt, J.J., Rosenfeld, J.A., Pagnamenta, A.T., Alswaid, A., Baker, E.H.,... Biesecker, L.G. (2018). Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genetics in Medicine. https://dx.doi.org/10.1038/gim.2017.249
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
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
Hauer, N., Popp, B., Schoeller, E., Schuhmann, S., Heath, K.E., Hisado-Oliva, A.,... Thiel, C.T. (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6), 630-638. https://dx.doi.org/10.1038/gim.2017.159
Gregor, A., Sadleir, L.G., Asadollahi, R., Azzarello-Burri, S., Battaglia, A., Ousager, L.B.,... Zweier, C. (2018). De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. American Journal of Human Genetics, 103(2), 305-316. https://dx.doi.org/10.1016/j.ajhg.2018.07.003
Kraus, C., Uebe, S., Thiel, C.T., Ekici, A.B., Reis, A., & Zweier, C. (2018). Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. American Journal of Medical Genetics Part A. https://dx.doi.org/10.1002/ajmg.a.40640
Straub, J., Konrad, E., Grüner, J., Toutain, A., Bok, L.A., Cho, M.T.,... Zweier, C. (2018). Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics, 102(1), 44-57. https://dx.doi.org/10.1016/j.ajhg.2017.11.008
Ivanovski, I., Djuric, O., Caraffi, S.G., Santodirocco, D., Pollazzon, M., Rosato, S.,... Garavelli, L. (2018). Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genetics in Medicine, 20(9), 965-975. https://dx.doi.org/10.1038/gim.2017.221
Kasper, B., Dörfler, A., Di Donato, N., Kasper, E.M., Wieczorek, D., Hoyer, J., & Zweier, C. (2017). Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. Epilepsy and Behavior, 69, 104-109. https://dx.doi.org/10.1016/j.yebeh.2017.01.022

Zuletzt aktualisiert 2018-09-01 um 01:00