Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome.

A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets.

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

Mechanisms of disease: neurogenetics of MeCP2 deficiency.

Ube3a expression is not altered in Mecp2 mutant mice.

Identification of cis-regulatory elements for MECP2 expression.

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models.

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.

Frizzled 9 knock-out mice have abnormal B-cell development.

Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins.

Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.