Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

(2013) Hirofumi Kodera et al.   HUMAN MUTATION

Genes That Escape X-Inactivation in Humans Have High Intraspecific Variability in Expression, Are Associated with Mental Impairment but Are Not Slow Evolving

(2013) Yuchao Zhang et al.   MOLECULAR BIOLOGY AND EVOLUTION

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

(2012) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism in two females with duplications involving Xp11.22-p11.23

(2011) ANNA C EDENS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

(2011) S. Benko et al.   JOURNAL OF MEDICAL GENETICS

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

(2011) I Voineagu et al.   MOLECULAR PSYCHIATRY

Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning

(2010) Maureen Flynn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TheMECP2duplication syndrome

(2010) Melissa B. Ramocki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development

(2010) AW El-Hattab et al.   CLINICAL GENETICS

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

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis

(2010) Shozo Honda et al.   JOURNAL OF HUMAN GENETICS

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

(2009) Roberto Giorda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

(2009) S Regis et al.   CLINICAL GENETICS

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

(2009) Raffaella Rossetti et al.   HUMAN MUTATION

Common pathological mutations inPQBP1induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon

(2009) Luciana Musante et al.   HUMAN MUTATION

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey 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

Oocyte-Specific Overexpression of Mouse Bone Morphogenetic Protein-15 Leads to Accelerated Folliculogenesis and an Early Onset of Acyclicity in Transgenic Mice

(2008) Heather E. McMahon et al.   ENDOCRINOLOGY

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS

Expression profile of PRAF2 in the human brain and enrichment in synaptic vesicles

(2008) Dana-Lynn T. Koomoa et al.   NEUROSCIENCE LETTERS

A loss-of-function mutation in theFTSJ1 gene causes nonsyndromic X-linked mental retardation in a japanese family

(2007) Kyoko Takano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS