Associated Papers
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions.
Dardik R et al.
International Journal of Molecular Sciences, 2023
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.
Senel S et al.
Genetic Counseling (geneva, Switzerland), 2011
Molecular mechanisms underlying hemophilia A phenotype in seven females.
Pavlova A et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Delaunoy JP et al.
Clinical Genetics, 2006
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.
Falco M et al.
Clinical Chemistry, 2005
The movement disorders of Coffin-Lowry syndrome.
Stephenson JB et al.
Brain & Development, 2005
A female with Coffin-Lowry syndrome and "cataplexy".
Fryssira H et al.
Genetic Counseling (geneva, Switzerland), 2002
Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis.
Horn D et al.
Prenatal Diagnosis, 2001
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
Delaunoy J et al.
Human Mutation, 2001
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.
Jacquot S et al.
American Journal of Human Genetics, 1998
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
Jurkiewicz D et al.
European Journal of Medical Genetics, 0