(Q46209795)

English

Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis (English)

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

author name string

Christopher Konialis

1

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

Birgitta Hagnefelt

2

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

Sophia Sevastidou

3

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

Sophia Karapanou

4

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

Katerina Pispili

5

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

Aggeliki Markaki

6

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

Constantinos Pangalos

7

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

publication date

29 March 2011

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

Prenatal Diagnosis

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

31

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

6

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

571-577

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

High-resolution array genomic hybridization in prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Handling small supernumerary marker chromosomes in prenatal diagnostics

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

3q29 interstitial microduplication: a new syndrome in a three-generation family.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Pure subtelomeric microduplications as a cause of mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Current methods of prenatal screening for Down syndrome and other fetal abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Large-scale copy number polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Detecting genomic imbalances in prenatal diagnosis: main hurdles and recent advances

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FPD.2750

21 January 2018

Identifiers

10.1002/PD.2750

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

20 December 2017

http://europepmc.org/abstract/MED/21448863

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