17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability

17p13.1 microdeletion involving theTP53gene in a boy presenting with mental retardation but no tumor

(2010) Caroline Schluth-Bolard et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene

(2010) Charles Coutton et al.   CLINICAL BIOCHEMISTRY

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

(2010) Yuta Komoike et al.   JOURNAL OF HUMAN GENETICS

Silver-Russell syndrome: genetic basis and molecular genetic testing

(2010) Thomas Eggermann et al.   Orphanet Journal of Rare Diseases

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

(2009) A.C.V. Krepischi-Santos et al.   CYTOGENETIC AND GENOME RESEARCH

Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing

(2009) T Schwarzbraun et al.   JOURNAL OF MEDICAL GENETICS

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

(2009) L Roos et al.   JOURNAL OF MEDICAL GENETICS

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Maternal uniparental disomy 7 and Silver–Russell syndrome – Clinical update and comparison with other subgroups

(2008) Dieter Kotzot   European Journal of Medical Genetics

Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay

(2008) Margaret P. Adam et al.   JOURNAL OF PEDIATRICS