Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Aimée L. Fenwick"'
Autor:
Angeliki Vogiatzi, Kleoniki Keklikoglou, Konstantinos Makris, Dionysia Stamatia Argyrou, Athanasios Zacharopoulos, Varvara Sotiropoulou, Nikolaos Parthenios, Angelos Gkikas, Maria Kokkori, Melodie S. W. Richardson, Aimée L. Fenwick, Sofia Archontidi, Christos Arvanitidis, Jeremy Robertson, John Parthenios, Giannis Zacharakis, Stephen R. F. Twigg, Andrew O. M. Wilkie, George Mavrothalassitis
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 9; Pages: 7961
ETS2 repressor factor (ERF) insufficiency causes craniosynostosis (CRS4) in humans and mice. ERF is an ETS domain transcriptional repressor regulated by Erk1/2 phosphorylation via nucleo-cytoplasmic shuttling. Here, we analyze the onset and developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e616098651dd1154e1e3efd53145ed64
https://doi.org/10.3390/ijms24097961
https://doi.org/10.3390/ijms24097961
Autor:
Julia, Vodopiutz, Heinz, Zoller, Aimée L, Fenwick, Richard, Arnhold, Max, Schmid, Daniela, Prayer, Thomas, Müller, Andreas, Repa, Arnold, Pollak, Christoph, Aufricht, Andrew O M, Wilkie, Andreas R, Janecke
Publikováno v:
The Journal of Pediatrics
Objective To delineate a novel autosomal recessive multiple congenital anomaly-mental retardation (MCA-MR) syndrome in 2 female siblings of a consanguineous pedigree and to identify the disease-causing mutation. Study design Both siblings were clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::287dfeccac35a7d6ad3349b807f50625
https://pubmed.ncbi.nlm.nih.gov/23069192
https://pubmed.ncbi.nlm.nih.gov/23069192