(Q34736415)

4 August 2017

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title

XLMR genes: update 2007. (English)

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4 August 2017

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4 August 2017

Pietro Chiurazzi

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4 August 2017

Charles E Schwartz

series ordinal

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4 August 2017

Giovanni Neri

series ordinal

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4 August 2017

publication date

16 January 2008

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European Journal of Human Genetics

4 August 2017

published in

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4 August 2017

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4 August 2017

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4 August 2017

page(s)

422-434

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Prevalence of mental retardation and developmental disabilities: estimates from the 1994/1995 national health interview survey disability supplements.

4 August 2017

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The renaming of mental retardation: understanding the change to the term intellectual disability.

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Genetics of mental retardation

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Molecular and comparative genetics of mental retardation

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Genetics and pathophysiology of mental retardation

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Human disorders of cortical development: from past to present

21 January 2018

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Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

21 January 2018

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X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

21 January 2018

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X-linked genes and mental functioning

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Nonspecific X-linked mental retardation II: the frequency in British Columbia.

21 January 2018

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The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers

21 January 2018

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Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

21 January 2018

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X-linked mental retardation

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X-linked mental retardation: further lumping, splitting and emerging phenotypes

21 January 2018

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21 January 2018

XLMR genes: update 1990.

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Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

21 January 2018

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The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes.

21 January 2018

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21 January 2018

XLMR genes: update 1992.

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21 January 2018

XLMR genes: update 1996.

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21 January 2018

XLMR genes: update 2000.

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X-linked mental retardation (XLMR): from clinical conditions to cloned genes

21 January 2018

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Nomenclature guidelines for X-linked mental retardation

21 January 2018

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Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

21 January 2018

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

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Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

21 January 2018

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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.

21 January 2018

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The role of neuronal complexes in human X-linked brain diseases

21 January 2018

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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

21 January 2018

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FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations

21 January 2018

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Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat

21 January 2018

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X-linked mental retardation: many genes for a complex disorder

21 January 2018

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The genetics of mental retardation

21 January 2018

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X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

21 January 2018

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A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

21 January 2018

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Subtelomeric chromosome aberrations: still a lot to learn

21 January 2018

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Diagnostic genome profiling in mental retardation

21 January 2018

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201994

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 January 2018

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X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation

21 January 2018

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Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

21 January 2018

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Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

21 January 2018

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Clinical genetic evaluation of the child with mental retardation or developmental delays

21 January 2018

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Diagnostic evaluation of developmental delay/mental retardation: An overview

21 January 2018

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Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

21 January 2018

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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

21 January 2018

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Neuroimaging studies in the evaluation of developmental delay/mental retardation

21 January 2018

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Metabolic disorders and mental retardation

21 January 2018

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X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

21 January 2018

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21 January 2018

XLMR genes: update 1994

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201994

7 January 2021

XLMR genes: Update 1998

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201994

7 January 2021

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

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7 January 2021

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201994

7 January 2021

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201994

7 January 2021

PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201994

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201994

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Dimensions Publication ID

4 August 2017

1010140334

0 references

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