(Q51803633)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

main subject

karyotype

0 references

whole genome sequencing

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Geraldine Mathonnet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

Z Kibar

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

R Fetni

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

F Tihy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

V Désilets

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

S Nizard

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

J L Michaud

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

E Lemyre

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

publication date

16 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

128-141

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21496010%20AND%20SRC:MED&resulttype=core&format=json

Medical progress. Congenital malformations: etiologic factors and their role in prevention (first of two parts).

28 January 2020

cites work

1 reference

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Changes in the utilization of prenatal diagnosis

21 January 2018

1 reference

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Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study

21 January 2018

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Detection of chromosome aberrations in the second trimester using genetic amniocentesis: experience during 1995-2004.

21 January 2018

1 reference

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Cryptic telomere imbalance: a 15-year update

21 January 2018

1 reference

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Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations.

21 January 2018

1 reference

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Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

21 January 2018

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Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

21 January 2018

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Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

21 January 2018

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Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

21 January 2018

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Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

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Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

21 January 2018

1 reference

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

21 January 2018

1 reference

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Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages

21 January 2018

1 reference

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Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01687.X

Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis

21 January 2018

1 reference

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

21 January 2018

1 reference

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Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype

21 January 2018

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High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings.

21 January 2018

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Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

21 January 2018

1 reference

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01687.X

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01687.X

Hotspots of large rare deletions in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01687.X

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

21 January 2018

1 reference

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Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly

21 January 2018

1 reference

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Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.

21 January 2018

1 reference

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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

21 January 2018

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

21 January 2018

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

21 January 2018

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Terminal deletion of the long arm of chromosome 10: case report and review of the literature

21 January 2018

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Identification of the gene for Nance-Horan syndrome (NHS)

21 January 2018

1 reference

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The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.

21 January 2018

1 reference

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De novo complete trisomy 5p: clinical report and FISH studies

21 January 2018

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Trisomy 5p. A case report and review

21 January 2018

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De novo complete trisomy 5p: clinical and neuroradiological findings.

21 January 2018

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Periventricular heterotopia associated with chromosome 5p anomalies.

21 January 2018

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Split hand foot malformation is associated with a reduced level of Dactylin gene expression

21 January 2018

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The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

21 January 2018

1 reference

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The association of split hand foot malformation (SHFM) and congenital heart defects

21 January 2018

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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

21 January 2018

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Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population

21 January 2018

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Value of routine ultrasound scanning at 19 weeks: a four year study of 8849 deliveries

21 January 2018

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

21 January 2018

1 reference

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