Raoul C. M. Hennekam
- Hutchinson–Gilford progeria syndrome: Review of the phenotype
2006/07/12 by Raoul C. M. Hennekam · 8 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Cardiology #Endocrinology #Failure to thrive #Genetics #Internal medicine #LMNA #Lamin #Lipodystrophy #Medicine #Nuclear Structure and Function #Obesity #PARP inhibition in cancer therapy #Pediatrics #Progeria #RNA Research and Splicing #Short stature #Weight loss
- Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
2010/07/31 by Valérie Malan, Diana Rajan, Sophie Thomas +21 · 27 citations
Biochemistry, Genetics and Molecular Biology · #Biology #Chromosome #Comparative genomic hybridization #Frameshift mutation #Gene #Genetic Syndromes and Imprinting #Genetics #Homeotic gene #Macrocephaly #Missense mutation #Mutation #Nonsense #Nonsense mutation #Phenotype #RNA Research and Splicing #RNA modifications and cancer #Sotos syndrome
- Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
1995/07/01 by Fred Petrif, Rachel H. Giles, Hans G. Dauwerse +10 · 2 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Congenital limb and hand anomalies #Genomic variations and chromosomal abnormalities
- Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
2013/08/08 by Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto-van Silfhout +98 · 3 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer Mechanisms and Therapy #Cancer-related gene regulation #Chromatin Remodeling and Cancer
- Meier-Gorlin syndrome: Report of eight additional cases and review
2001/01/01 by Ernie M.H.F. Bongers, John M. Opitz, Alan Fryer +11 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer and Skin Lesions #Congenital limb and hand anomalies #Hedgehog Signaling Pathway Studies