Associated Papers
Structure-Function Analysis of p57KIP2 in the Human Pancreatic Beta Cell Reveals a Bipartite Nuclear Localization Signal.
Choleva L et al.
Endocrinology, 2023
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Brioude F et al.
Human Mutation, 2015
Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase.
Borges KS et al.
Cell Division, 2015
Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.
Milani D et al.
The Application of Clinical Genetics, 2014
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.
Brioude F et al.
Journal of Medical Genetics, 2013
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
Arboleda VA et al.
Nature Genetics, 2012
22634751 (PubMed )
Supplement: NIHMS371291-supplement-1.pdf
TWO DIFFERENT MUTATIONS OF GL13 GENE IN TWO DIFFERENT SYNDROMES.
Candan S et al.
Genetic Counseling (geneva, Switzerland), 0
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