MITTELDEUTSCHES KOMPETENZNETZ SELTENE ERKRANKUNGEN

Publikationen

Altmuller, F., Lissewski, C., Bertola, D., Flex, E., Stark, Z., Spranger, S., . . . Zenker, M. (2017). Genotype and phenotype spectrum of NRAS germline variants. Eur J Hum Genet, 25(7), 823-831.
doi:10.1038/ejhg.2017.65

Andelfinger, G., Marquis, C., Raboisson, M. J., Theoret, Y., Waldmuller, S., Wiegand, G., . . . Hofbeck, M. (2019). Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition. J Am Coll Cardiol, 73(17), 2237-2239.
doi:10.1016/j.jacc.2019.01.066

Bloemeke, J., Sommer, R., Witt, S., Bullinger, M., Nordon, C., Badia, F. J., . . . Quitmann, J. (2019). Cross-cultural selection and validation of instruments to assess patient-reported outcomes in children and adolescents with achondroplasia. Qual Life Res, 28(9), 2553-2563.
doi:10.1007/s11136-019-02210-z

Brinkmann, J., Lissewski, C., Pinna, V., Vial, Y., Pantaleoni, F., Lepri, F., . . . Zenker, M. (2020). The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. Eur J Hum Genet.
doi:10.1038/s41431-020-00743-3

Capri, Y., Flex, E., Krumbach, O. H. F., Carpentieri, G., Cecchetti, S., Lissewski, C., . . . Zenker, M. (2019). Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. American journal of human genetics, 104(6), 1223-1232.
doi:10.1016/j.ajhg.2019.04.013

Cheung, M. S., Alves, I., Hagenas, L., & Mohnike, K. (2019). Meeting report from the achondroplasia foramen magnum workshop, Salzburg, Austria 22nd June 2019. Bone, 127, 499-502.
doi:10.1016/j.bone.2019.07.020

Grant, A. R., Cushman, B. J., Cave, H., Dillon, M. W., Gelb, B. D., Gripp, K. W., . . . Zenker, M. (2018). Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Hum Mutat, 39(11), 1485-1493.
doi:10.1002/humu.23624

Gurovich, Y., Hanani, Y., Bar, O., Nadav, G., Fleischer, N., Gelbman, D., . . . Gripp, K. W. (2019). Identifying facial phenotypes of genetic disorders using deep learning. Nat Med, 25(1), 60-64.
doi:10.1038/s41591-018-0279-0

Hauer, N. N., Popp, B., Taher, L., Vogl, C., Dhandapany, P. S., Buttner, C., . . . Thiel, C. T. (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. Eur J Hum Genet, 27(7), 1061-1071.
doi:10.1038/s41431-019-0362-0

Kaltenecker, E., Schleihauf, J., Meierhofer, C., Shehu, N., Mkrtchyan, N., Hager, A., . . . Wolf, C. M. (2019). Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy. Cardiovasc Diagn Ther, 9(Suppl 2), S299-S309.
doi:10.21037/cdt.2019.05.01

Lissewski, C., Chune, V., Pantaleoni, F., De Luca, A., Capri, Y., Brinkmann, J., . . . Zenker, M. (2020). Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. Eur J Hum Genet.
doi:10.1038/s41431-020-00708-6

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