Author Gillessen-Kaesbach, Gabriele
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2007 | Journal Article
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Zenker, M.; Horn, D.; Wieczorek, D.; Allanson, J. E.; Pauli, S.; van der Burgt, I. & Doerr, H.-G. et al. (2007)
Journal of Medical Genetics, 44(10) pp. 651-656. DOI: https://doi.org/10.1136/jmg.2007.051276
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2009 | Journal Article
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Hucthagowder, V.; Morava, E.; Kornak, U. ; Lefeber, D. J; Fischer, B.; Dimopoulou, A. & Aldinger, A. et al. (2009)
Human Molecular Genetics, 18(12) pp. 2149-2165. DOI: https://doi.org/10.1093/hmg/ddp148
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2010 | Journal Article | Research Paper
A Specific Mutation in the Distant Sonic Hedgehog (SHH) Cis-Regulator (ZRS) Causes Werner Mesomelic Syndrome (WMS) While Complete ZRS Duplications Underlie Haas Type Polysyndactyly and Preaxial Polydactyly (PPD) With or Without Triphalangeal Thumb
Wieczorek, D.; Pawlik, B.; Li, Y. ; Akarsu, N. A.; Caliebe, A.; May, K. J. W. & Schweiger, B. et al. (2010)
Human Mutation, 31(1) pp. 81-89. DOI: https://doi.org/10.1002/humu.21142
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2011 | Journal Article | Research Paper
A mutation screen in patients with Kabuki syndrome
Li, Y. ; Boegershausen, N.; Alanay, Y.; Kiper, P. O. S.; Plume, N.; Keupp, K. & Pohl, E. et al. (2011)
Human Genetics, 130(6) pp. 715-724. DOI: https://doi.org/10.1007/s00439-011-1004-y
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2013 | Journal Article | Research Paper
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
Zweier, C.; Kraus, C. ; Brueton, L.; Cole, T.; Degenhardt, F.; Engels, H. & Gillessen-Kaesbach, G. et al. (2013)
Journal of Medical Genetics, 50(12) pp. 838-847. DOI: https://doi.org/10.1136/jmedgenet-2013-101918
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2014 | Journal Article | Research Paper
Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome
Hussain, M. S.; Battaglia, A.; Szczepanski, S.; Kaygusuz, E.; Toliat, M. R.; Sakakibara, S.-i. & Altmüller, J. et al. (2014)
American journal of human genetics, 95(5) pp. 622-632. DOI: https://doi.org/10.1016/j.ajhg.2014.10.008
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2014 | Journal Article
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome
Ehmke, N.; Caliebe, A.; Koenig, R.; Kant, S. G; Stark, Z.; Cormier-Daire, V. & Wieczorek, D. et al. (2014)
The American Journal of Human Genetics, 95(6) pp. 763-770. DOI: https://doi.org/10.1016/j.ajhg.2014.11.004
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2017 | Journal Article
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
Parenti, I.; Teresa-Rodrigo, M. E.; Pozojevic, J.; Ruiz Gil, S.; Bader, I.; Braunholz, D. & Bramswig, N. C. et al. (2017)
Human Genetics, 136(3) pp. 307-320. DOI: https://doi.org/10.1007/s00439-017-1758-y
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2018 | Journal Article
Genetics of intellectual disability in consanguineous families
Hu, H.; Kahrizi, K.; Musante, L.; Fattahi, Z.; Herwig, R.; Hosseini, M. & Oppitz, C. et al. (2018)
Molecular Psychiatry,. DOI: https://doi.org/10.1038/s41380-017-0012-2
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2018 | Journal Article | Research Paper
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
Paolacci, S.; Li, Y. ; Agolini, E.; Bellacchio, E.; Arboleda-Bustos, C. E; Carrero, D. & Bertola, D. et al. (2018)
Journal of Medical Genetics, 55(12) pp. 837-846. DOI: https://doi.org/10.1136/jmedgenet-2018-105528
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2019 | Journal Article |
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema
Recke, A.; Massalme, E. G.; Jappe, U.; Steinmüller-Magin, L.; Schmidt, J. ; Hellenbroich, Y. & Hüning, I. et al. (2019)
Clinical and Translational Allergy, 9(1) art. 9. DOI: https://doi.org/10.1186/s13601-019-0247-x
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