Related references
Note: Only part of the references are listed.X-Linked intellectual disability update 2022
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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
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Structural variation mutagenesis of the human genome: Impact on disease and evolution
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A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism
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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
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Duplication at Xq13.3-q21.1 With Syndromic Intellectual Disability, a Probable Role for the ATRX Gene
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Whole ARX Gene Duplication is Compatible With Normal Intellectual Development
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Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy
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XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
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Duplication of the Xq27.3-q28 region, Including the FMR1 Gene, in an X-Linked Hypogonadism, Gynecomastia, Intellectual Disability, Short Stature, and Obesity Syndrome
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The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
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HUMAN MOLECULAR GENETICS (2013)
Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
Guy Froyen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features
Viola Alesi et al.
GENE (2012)
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function
Sandesh C. S. Nagamani et al.
NEUROGENETICS (2012)
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
A. C. J. Gijsbers et al.
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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
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EUROPEAN JOURNAL OF MEDICAL GENETICS (2011)
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
Pengfei Liu et al.
HUMAN MOLECULAR GENETICS (2011)
Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome
Keith W. McLarren et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition
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EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Xq13.2q21.1 Duplication Encompassing the ATRX Gene in a Man With Mental Retardation, Minor Facial and Genital Anomalies, Short Stature and Broad Thorax
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature
C. Nemos et al.
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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Dorien Lugtenberg et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene
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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
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Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH:: Important role for increased gene dosage of XLMR genes
Guy Froyen et al.
HUMAN MUTATION (2007)
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
O Hagens et al.
HUMAN GENETICS (2006)
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor
J Ramser et al.
HUMAN MOLECULAR GENETICS (2005)
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
T Kleefstra et al.
JOURNAL OF MEDICAL GENETICS (2004)
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
C Bergmann et al.
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