(Q51902875)

English

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.

scientific article published in October 2007

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scholarly article

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31 December 2019

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 (English)

1 reference

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31 December 2019

Suzanna G.m. Frints

5

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31 December 2019

author name string

Guy Froyen

1

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31 December 2019

Hilde Van Esch

2

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31 December 2019

Marijke Bauters

3

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31 December 2019

Karen Hollanders

4

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31 December 2019

Joris R Vermeesch

6

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31 December 2019

Koen Devriendt

7

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31 December 2019

Jean-Pierre Fryns

8

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31 December 2019

Peter Marynen

9

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31 December 2019

publication date

1 October 2007

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31 December 2019

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31 December 2019

28

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31 December 2019

10

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31 December 2019

1034-1042

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31 December 2019

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

1 reference

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Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

1 reference

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21 January 2018

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

1 reference

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21 January 2018

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

1 reference

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21 January 2018

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

1 reference

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7 January 2021

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X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

1 reference

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7 January 2021

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X-inactivation profile reveals extensive variability in X-linked gene expression in females

1 reference

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7 January 2021

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Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes

1 reference

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Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.

1 reference

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7 January 2021

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Diagnostic genome profiling in mental retardation

1 reference

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7 January 2021

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DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

1 reference

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7 January 2021

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X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

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Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

1 reference

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7 January 2021

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The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain

1 reference

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7 January 2021

based on heuristic

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A new standard nomenclature for proteins related to Apx and Shroom

1 reference

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7 January 2021

based on heuristic

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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

1 reference

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7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

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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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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The genetics of mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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The performance of CGH array for the detection of cryptic constitutional chromosome imbalances

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

inferred from DOI database lookup

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

inferred from DOI database lookup

Nuclear export factor family protein participates in cytoplasmic mRNA trafficking.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

inferred from DOI database lookup

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

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High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

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Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

inferred from DOI database lookup

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20564

7 January 2021

based on heuristic

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Shroom4 (Kiaa1202) is an actin-associated protein implicated in cytoskeletal organization

1 reference

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7 January 2021

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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

1 reference

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Identifiers

10.1002/HUMU.20564

1 reference

Europe PubMed Central

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31 December 2019

1 reference

Europe PubMed Central

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31 December 2019

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