Oligonucleotide microarrays in constitutional genetic diagnosis (Q37894742)

24 August 2017

1 reference

title

Oligonucleotide microarrays in constitutional genetic diagnosis (English)

1 reference

24 August 2017

0 references

Boris Keren

1

1 reference

24 August 2017

Cedric Le Caignec

series ordinal

2

1 reference

24 August 2017

publication date

1 June 2011

1 reference

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

24 August 2017

published in

1 reference

24 August 2017

volume

11

1 reference

24 August 2017

issue

5

1 reference

24 August 2017

page(s)

521-532

1 reference

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

24 August 2017

cites work

1 reference

Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

21 January 2018

1 reference

Comparative genomic hybridization: uses and limitations

21 January 2018

1 reference

High resolution comparative genomic hybridisation in clinical cytogenetics

21 January 2018

1 reference

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

1 reference

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

21 January 2018

1 reference

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

21 January 2018

1 reference

Global variation in copy number in the human genome

21 January 2018

1 reference

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

21 January 2018

1 reference

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

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

21 January 2018

1 reference

Large-scale genotyping of complex DNA.

21 January 2018

1 reference

Whole-genome genotyping with the single-base extension assay

21 January 2018

1 reference

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

21 January 2018

1 reference

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 January 2018

1 reference

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

21 January 2018

1 reference

Handling small supernumerary marker chromosomes in prenatal diagnostics

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

21 January 2018

1 reference

Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol

21 January 2018

1 reference

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

1 reference

Recurrent 16p11.2 microdeletions in autism

21 January 2018

1 reference

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

21 January 2018

1 reference

Large, rare chromosomal deletions associated with severe early-onset obesity

21 January 2018

1 reference

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

21 January 2018

1 reference

Evolutionary toggling of the MAPT 17q21.31 inversion region

21 January 2018

1 reference

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

21 January 2018

1 reference

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

21 January 2018

1 reference

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular mechanisms of chromosomal rearrangement during primate evolution

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age

21 January 2018

1 reference

Genomic alterations in cultured human embryonic stem cells

21 January 2018

1 reference

Human embryonic stem cells reveal recurrent genomic instability at 20q11.21.

21 January 2018

1 reference

Copy number variation and selection during reprogramming to pluripotency

21 January 2018

1 reference

Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1586/ERM.11.32

1 reference

24 August 2017

1 reference