Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

MAGED1 is a novel regulator of a select subset of bHLH PAS transcription factors

(2016) Adrienne E. Sullivan et al.   FEBS Journal

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

(2016) Michael J Friez et al.   BMJ Open

Duplication Xp11.22-p14 in females: Does X-inactivation help in assessing their significance?

(2015) Christina Evers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications

(2015) Sarah E. Grams et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

(2015) Ching Moey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

(2015) Nathalie Fieremans et al.   European Journal of Medical Genetics

Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability

(2015) Cíntia Barros Santos-Rebouças et al.   JOURNAL OF HUMAN GENETICS

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease

(2015) Narjes Armanet et al.   Molecular Cytogenetics

A complex Xp11.22 deletion in a patient with syndromic autism: Exploration ofFAM120Cas a positional candidate gene for autism

(2014) Veerle De Wolf et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2014) Mathilde Nizon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Maged1 Co-interacting with CREB Through a Hexapeptide Repeat Domain Regulates Learning and Memory in Mice

(2014) JianJun Yang et al.   MOLECULAR NEUROBIOLOGY

Characterization of Human Pseudogene-Derived Non-Coding RNAs for Functional Potential

(2014) Xingyi Guo et al.   PLoS One

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

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

(2013) Emma A. Webb et al.   BRAIN

Polypeptide chain release factor eRF3 is a novel molecular partner of survivin

(2013) Ruilin Xiao et al.   CELL BIOLOGY INTERNATIONAL

A pseudogene long-noncoding-RNA network regulates PTEN transcription and translation in human cells

(2013) Per Johnsson et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation

(2013) Silvia De Rubeis et al.   NEURON

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

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

Expressed Pseudogenes in the Transcriptional Landscape of Human Cancers

(2012) Shanker Kalyana-Sundaram et al.   CELL

Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus

(2012) Carlos Dombret et al.   HUMAN MOLECULAR GENETICS

MAGE-D1 Regulates Expression of Depression-Like Behavior through Serotonin Transporter Ubiquitylation

(2012) A. Mouri et al.   JOURNAL OF NEUROSCIENCE

Codon-usage-based inhibition of HIV protein synthesis by human schlafen 11

(2012) Manqing Li et al.   NATURE

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

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

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder

(2011) Brian H.Y. Chung et al.   European Journal of Medical Genetics

Pseudogenes: Pseudo-functional or key regulators in health and disease?

(2011) R. C. Pink et al.   RNA

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

(2010) Annabel C. Whibley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A coding-independent function of gene and pseudogene mRNAs regulates tumour biology

(2010) Laura Poliseno et al.   NATURE

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

(2010) Cheryl Shoubridge et al.   NATURE 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

A Missense Mutation in CASK Causes FG Syndrome in an Italian Family

(2009) Giulio Piluso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism-associated familial microdeletion of Xp11.22

(2009) Y Qiao et al.   CLINICAL GENETICS

Identification of CENP-V as a novel microtubule-associating molecule that activates Src family kinases through SH3 domain interaction

(2009) Zen-ichiro Honda et al.   GENES TO CELLS

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

(2009) Patrick S Tarpey et al.   NATURE GENETICS

CENP-V is required for centromere organization, chromosome alignment and cytokinesis

(2008) Ana Mafalda Baptista Tadeu et al.   EMBO JOURNAL

Activity-dependent regulation of inhibitory synapse development by Npas4

(2008) Yingxi Lin et al.   NATURE

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

(2008) Juliane Najm et al.   NATURE GENETICS