(Q37466137)

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Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

scientific article published on December 2009

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15 January 2020

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination (English)

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15 January 2020

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Christiane Zweier

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15 January 2020

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15 January 2020

Montserrat Milà

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15 January 2020

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Anita Rauch

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15 January 2020

Jean-Pierre Fryns

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Jean-Pierre Fryns

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15 January 2020

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Karen Govaerts

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15 January 2020

Joke Vandewalle

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Joke Vandewalle

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15 January 2020

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Hilde Van Esch

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15 January 2020

Jelle Verbeeck

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15 January 2020

Elly Pijkels

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15 January 2020

Isabel Fernandez

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15 January 2020

Jürgen Kohlhase

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15 January 2020

Christiane Spaich

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15 January 2020

Peter Marynen

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15 January 2020

Guy Froyen

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15 January 2020

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1 December 2009

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15 January 2020

American Journal of Human Genetics

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15 January 2020

85

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15 January 2020

6

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15 January 2020

809-822

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15 January 2020

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

1 reference

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23 August 2017

A microhomology-mediated break-induced replication model for the origin of human copy number variation

1 reference

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23 August 2017

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790561

23 August 2017

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790561

23 August 2017

Genomic investigation of alpha-synuclein multiplication and parkinsonism

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23 August 2017

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

1 reference

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23 August 2017

The fine-scale and complex architecture of human copy-number variation

1 reference

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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

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23 August 2017

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

1 reference

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

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23 August 2017

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

1 reference

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

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23 August 2017

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

1 reference

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A comparison study: applying segmentation to array CGH data for downstream analyses

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23 August 2017

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

1 reference

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GDIs: central regulatory molecules in Rho GTPase activation

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Filamin A: phenotypic diversity

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Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA.

1 reference

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Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

1 reference

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23 August 2017

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

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Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

1 reference

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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

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23 August 2017

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

1 reference

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Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

1 reference

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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

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Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.

1 reference

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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.

1 reference

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Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

1 reference

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2 September 2018

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

1 reference

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Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.

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An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

1 reference

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Identifiers

10.1016/J.AJHG.2009.10.019

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15 January 2020

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Europe PubMed Central

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15 January 2020

1 reference

Europe PubMed Central

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15 January 2020

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