(Q36881942)

16 August 2017

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

1 reference

16 August 2017

3

Chad A Shaw

1 reference

16 August 2017

14

James R Lupski

1 reference

16 August 2017

13

Christine M Eng

1 reference

16 August 2017

5

Sung-Hae L Kang

1 reference

16 August 2017

6

Marcia J Simovich

1 reference

16 August 2017

15

Sau Wai Cheung

1 reference

16 August 2017

Ignatia B Van den Veyver

1

1 reference

16 August 2017

Ankita Patel

2

1 reference

16 August 2017

Amber N Pursley

4

1 reference

16 August 2017

Patricia A Ward

7

1 reference

16 August 2017

Sandra Darilek

8

1 reference

16 August 2017

Anthony Johnson

9

1 reference

16 August 2017

Sarah E Neill

10

1 reference

16 August 2017

Weimin Bi

11

1 reference

16 August 2017

Lisa D White

12

1 reference

16 August 2017

Arthur L Beaudet

16

1 reference

16 August 2017

1 January 2009

1 reference

16 August 2017

1 reference

16 August 2017

29

1 reference

16 August 2017

1

1 reference

16 August 2017

29-39

1 reference

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Strong association of de novo copy number mutations with autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

ACOG Practice Bulletin No. 77: Screening for Fetal Chromosomal Abnormalities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Diagnostic genome profiling in mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Microarray analysis of cell-free fetal DNA in amniotic fluid: a prenatal molecular karyotype.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Del(3) (p25.3) without phenotypic effect

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

First-trimester or second-trimester screening, or both, for Down's syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665952

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FPD.2127

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

21 January 2018

1 reference

12 December 2020

The evolving prenatal screening scene

1 reference

12 December 2020

Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review

1 reference

12 December 2020

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

1 reference

12 December 2020

ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy

1 reference

12 December 2020

Terminal 3p deletions: phenotypic variability, chromosomal non-penetrance, or gene modification?

1 reference

12 December 2020

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

1 reference

12 December 2020

First-trimester screening for trisomies 21 and 18

1 reference

12 December 2020

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

1 reference

12 December 2020

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

12 December 2020

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

1 reference

12 December 2020

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

1 reference

12 December 2020

Identifiers

DOI

10.1002/PD.2127

1 reference

16 August 2017

1 reference

16 August 2017

1 reference