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

An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs

(2015) Chiara Barone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex

(2014) J. Dias et al.   GENES & DEVELOPMENT

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

(2014) Marketa Vlckova et al.   Twin Research and Human Genetics

Hypopigmented skin patches in 17q21.31 microdeletion syndrome

(2013) Maria C. Digilio et al.   CLINICAL DYSMORPHOLOGY

Clinical Significance of De Novo and Inherited Copy-Number Variation

(2013) Anneke T. Vulto-van Silfhout et al.   HUMAN MUTATION

Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing

(2012) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

(2012) David A Koolen et al.   EUROPEAN JOURNAL OF HUMAN 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

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

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

Structural diversity and African origin of the 17q21.31 inversion polymorphism

(2012) Karyn Meltz Steinberg et al.   NATURE GENETICS

Structural haplotypes and recent evolution of the human 17q21.31 region

(2012) Linda M Boettger et al.   NATURE GENETICS

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome

(2011) Salima El Chehadeh-Djebbar et al.   European Journal of Medical Genetics

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH

(2011) Sophia Kitsiou-Tzeli et al.   GENE

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Cutaneous features in 17q21.31 deletion syndrome

(2010) Emma Burkitt Wright et al.   CLINICAL DYSMORPHOLOGY

17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype

(2010) F.H. Sharkey et al.   CYTOGENETIC AND GENOME RESEARCH

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

The Nonspecific Lethal Complex Is a Transcriptional Regulator in Drosophila

(2010) Sunil Jayaramaiah Raja et al.   MOLECULAR CELL

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

(2009) Sylvie Jaillard et al.   European Journal of Medical Genetics

Subunit Composition and Substrate Specificity of a MOF-containing Histone Acetyltransferase Distinct from the Male-specific Lethal (MSL) Complex

(2009) Yong Cai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Evolutionary toggling of the MAPT 17q21.31 inversion region

(2008) Michael C Zody et al.   NATURE GENETICS