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1.
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
J Med Genet
; 2024 Mar 26.
Article
in English
| MEDLINE | ID: mdl-38531627
2.
The Peptidoglycan Recognition Protein 1 confers immune evasive properties on pancreatic cancer stem cells.
Gut
; 2024 May 16.
Article
in English
| MEDLINE | ID: mdl-38754953
3.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Article
in English
| MEDLINE | ID: mdl-33058759
4.
Blocking chondrocyte hypertrophy in conditional Evc knockout mice does not modify cartilage damage in osteoarthritis.
FASEB J
; 36(4): e22258, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35334131
5.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Hum Mutat
; 41(12): 2087-2093, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32906221
6.
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Hum Mutat
; 41(1): 265-276, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31549748
7.
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Hum Mol Genet
; 26(23): 4556-4571, 2017 12 01.
Article
in English
| MEDLINE | ID: mdl-28973407
8.
Targeting cancer stem cell OXPHOS with tailored ruthenium complexes as a new anti-cancer strategy.
J Exp Clin Cancer Res
; 43(1): 33, 2024 Jan 27.
Article
in English
| MEDLINE | ID: mdl-38281027
9.
EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.
Front Cell Dev Biol
; 11: 1190258, 2023.
Article
in English
| MEDLINE | ID: mdl-37576597
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