(Q30886605)

English

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization (English)

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

0 references

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Linlea Armstrong

4

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

22

object named as

Guy A Rouleau

0 references

Patrick MacLeod

object named as

Patrick MacLeod

16

0 references

object named as

Farah R Zahir

25

0 references

object named as

Laura Arbour

3

0 references

object named as

Patricia Birch

6

0 references

object named as

Shelin Adam

2

0 references

object named as

Millan S Patel

20

0 references

William T. Gibson

object named as

William T Gibson

12

0 references

Stephane Flibotte

11

object named as

Stephane Flibotte

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Jacques L. Michaud

18

object named as

Jacques L Michaud

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

26

object named as

Patrice Eydoux

1 reference

Europe PubMed Central

20 August 2017

PMC publication ID

Emmanuelle Lemyre

14

object named as

Emmanuelle Lemyre

1 reference

Europe PubMed Central

20 August 2017

PMC publication ID

Margot I Van Allen

23

object named as

Margot I Van Allen

1 reference

Europe PubMed Central

20 August 2017

PMC publication ID

author name string

Jm Friedman

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Agnes Baross

5

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Cornelius Boerkoel

7

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Susanna Chan

8

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

David Chai

9

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Allen D Delaney

10

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Sylvie Langlois

13

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

H Irene Li

15

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Joan Mathers

17

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Barbara C McGillivray

19

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Hong Qian

21

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Siu-Li Yong

24

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Marco A Marra

27

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

language of work or name

0 references

publication date

16 November 2009

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

10

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

526

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

High-resolution array genomic hybridization in prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

The diploid genome sequence of an Asian individual

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Accurate whole human genome sequencing using reversible terminator chemistry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Copy-number variations associated with neuropsychiatric conditions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Emerging themes and new challenges in defining the role of structural variation in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Integrated detection and population-genetic analysis of SNPs and copy number variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Clinical variability of the 22q11.2 duplication syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Mapping and sequencing of structural variation from eight human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

The complete genome of an individual by massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Rubinstein-Taybi syndrome: clinical and molecular overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Monosomy 1p36 deletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Copy-number variation in control population cohorts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Paired-end mapping reveals extensive structural variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

The diploid genome sequence of an individual human

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Germ-line DNA copy number variation frequencies in a large North American population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Guidelines for molecular karyotyping in constitutional genetic diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Genomic rearrangements and sporadic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Strong association of de novo copy number mutations with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

A comprehensive analysis of common copy-number variations in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Diagnostic genome profiling: unbiased whole genome or targeted analysis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Application of array-based comparative genomic hybridization to clinical diagnostics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Variable outcomes in mosaic trisomy 16: five case reports and literature analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Identification of disease genes by whole genome CGH arrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Diagnostic genome profiling in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Study of somatic chromosomes from 9 mongoloid children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

A case of human intersexuality having a possible XXY sex-determining mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

BLAT—The BLAST-Like Alignment Tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

21 June 2018

Array comparative genomic hybridization in global developmental delay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Use of array-based technology in the practice of medical genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Rubinstein-Taybi syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Three novel mutations responsible for Cockayne syndrome group A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

A novel atypical 22q11.2 distal deletion in father and son.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Familial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2781027

25 November 2018

Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917086

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917086

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917086

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917086

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microarray analysis for constitutional cytogenetic abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/19917086

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2164-10-526

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2164-10-526

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q30886605&oldid=2195033283"