Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability

A SOX3 duplication and lumbosacral spina bifida in three generations

(2022) Kameryn M. Butler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

(2022) Jiyong Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

X‐Linked intellectual disability update 2022

(2022) Charles E. Schwartz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene

(2019) Vera Uliana et al.   JOURNAL OF GENETICS

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

(2018) M. Felicia Basilicata et al.   NATURE GENETICS

NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report

(2018) Chun-Chun Hu et al.   BMC Medical Genetics

Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1

(2017) Chih-Ping Chen et al.   Taiwanese Journal of Obstetrics & Gynecology

De novo mutations ofKIAA2022in females cause intellectual disability and intractable epilepsy

(2016) Iris M de Lange et al.   JOURNAL OF MEDICAL GENETICS

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

Structural variation mutagenesis of the human genome: Impact on disease and evolution

(2015) James R. Lupski   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene

(2014) Francisco Martínez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

WholeARXgene duplication is compatible with normal intellectual development

(2014) Cornel Popovici et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy

(2014) Ellyze van Asbeck et al.   CLINICAL DYSMORPHOLOGY

A duplication of the wholeKIAA2022gene validates the gene role in the pathogenesis of intellectual disability and autism

(2014) A. Charzewska et al.   CLINICAL GENETICS

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

(2014) Przemyslaw Szafranski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

(2013) Scott E. Hickey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

(2013) Joke Vandewalle et al.   HUMAN GENETICS

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

(2013) Lionel Van Maldergem et al.   HUMAN MOLECULAR GENETICS

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

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

335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features

(2012) Viola Alesi et al.   GENE

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

(2012) Sandesh C. S. Nagamani et al.   NEUROGENETICS

9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features

(2011) Carolina Sismani et al.   European Journal of Medical Genetics

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

(2011) Pengfei Liu et al.   HUMAN MOLECULAR GENETICS

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

(2010) Keith W. McLarren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

(2010) ACJ Gijsbers et al.   CLINICAL GENETICS

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

(2009) Dorien Lugtenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutational spectrum ofCDKL5in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

(2009) C Nemos et al.   CLINICAL GENETICS

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

(2009) Marlène Rio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

(2008) Maria Francesca Bedeschi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

(2008) Dorien Lugtenberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS