The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome

(2016) Pia Bernardo et al.   BRAIN & DEVELOPMENT

Angiocentric glioma transformed into anaplastic ependymoma: Review of the evidence for malignant potential

(2016) James A. McCracken et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Telencephalic Flexure and Malformations of the Lateral Cerebral (Sylvian) Fissure

(2016) Harvey B. Sarnat et al.   PEDIATRIC NEUROLOGY

Recent developments in brain tumor predisposing syndromes

(2015) Gunnar Johansson et al.   ACTA ONCOLOGICA

Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome

(2015) Alexander M. Maley et al.   CLINICAL DYSMORPHOLOGY

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

(2015) David A Koolen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

IntragenicKANSL1mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

(2015) Marcella Zollino et al.   JOURNAL OF MEDICAL GENETICS

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: Central nervous involvement in two Italian patients

(2012) Gaetano Terrone et al.   European Journal of Medical Genetics

17q21.31 Microdeletion associated with infantile spasms

(2012) Carter D. Wray   European Journal of Medical Genetics

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

(2012) Marcella Zollino et al.   NATURE GENETICS

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

(2012) David A Koolen et al.   NATURE GENETICS

Patterns of treatment response in newly diagnosed epilepsy

(2012) M. J. Brodie et al.   NEUROLOGY

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

(2010) Christèle Dubourg et al.   European Journal of Medical Genetics

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

(2009) T Y Tan et al.   JOURNAL OF MEDICAL GENETICS

Two Mammalian MOF Complexes Regulate Transcription Activation by Distinct Mechanisms

(2009) Xiangzhi Li et al.   MOLECULAR CELL

Abnormal Sylvian fissure on prenatal cerebral imaging: significance and correlation with neuropathological and postnatal data

(2008) L. Guibaud et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY