Nicolaides–Baraitser syndrome: defining a phenotype

This publication has 10 references indexed in Scilit:

• Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
  Brain and Development, 2015
• Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders
  Frontiers in Behavioral Neuroscience, 2015
• Phenotype and genotype in Nicolaides–Baraitser syndrome
  American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014
• SWI/SNF complex in disorder
  Epigenetics, 2012
• Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
  Nature Genetics, 2012
• A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease
  Human Molecular Genetics, 2010
• Nicolaides–Baraitser syndrome: Delineation of the phenotype
  American Journal of Medical Genetics Part A, 2009
• A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells
  Human Molecular Genetics, 2008
• Clinical Course of Genetic Diseases of the Insulin Receptor (Type A and Rabson-Mendenhall Syndromes)
  Medicine, 2004
• An unusual syndrome with mental retradation and sparse hair
  Clinical Dysmorphology, 1993