(Q37894742)

24 August 2017

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title

Oligonucleotide microarrays in constitutional genetic diagnosis (English)

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24 August 2017

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Boris Keren

1

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24 August 2017

Cedric Le Caignec

series ordinal

2

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24 August 2017

publication date

1 June 2011

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

24 August 2017

published in

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24 August 2017

volume

11

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24 August 2017

issue

5

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24 August 2017

page(s)

521-532

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

24 August 2017

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

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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Global variation in copy number in the human genome

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

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Detection of clinically relevant exonic copy-number changes by array CGH.

21 January 2018

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Large-scale genotyping of complex DNA.

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Whole-genome genotyping with the single-base extension assay

21 January 2018

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Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation

21 January 2018

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21 January 2018

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21 January 2018

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Population analysis of large copy number variants and hotspots of human genetic disease

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

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The C20orf133 gene is disrupted in a patient with Kabuki syndrome

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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

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Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

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Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

21 January 2018

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Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

21 January 2018

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21 January 2018

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Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.

21 January 2018

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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 January 2018

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Large recurrent microdeletions associated with schizophrenia

21 January 2018

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Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

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Genotype, haplotype and copy-number variation in worldwide human populations

21 January 2018

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A genome-wide survey of structural variation between human and chimpanzee

21 January 2018

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Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons

21 January 2018

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Molecular mechanisms of chromosomal rearrangement during primate evolution

21 January 2018

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Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

21 January 2018

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Identification of incestuous parental relationships by SNP-based DNA microarrays.

21 January 2018

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Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Identification and Classification of Chromosomal Aberrations in Human Induced Pluripotent Stem Cells

21 January 2018

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21 January 2018

Identifiers

DOI

10.1586/ERM.11.32

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24 August 2017

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