MLPA for confirmation of array CGH results and determination of inheritance. - Wikidata - awgldk - TriplyDB

MLPA for confirmation of array CGH results and determination of inheritance.

MLPA for confirmation of array CGH results and determination of inheritance.

http://www.wikidata.org/entity/Q34243058

about

Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.Molecular genetic testing and the future of clinical genomics.Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features BBGRE: brain and body genetic resource exchange Copy-number changes in prenatal diagnosis.Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study

P2860

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P2860

MLPA for confirmation of array CGH results and determination of inheritance.

http://www.wikidata.org/entity/Q34243058

description

2010 nî lūn-bûn

@nan

2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

MLPA for confirmation of array CGH results and determination of inheritance.

@ast

MLPA for confirmation of array CGH results and determination of inheritance.

@en

MLPA for confirmation of array CGH results and determination of inheritance.

@nl

type

label

MLPA for confirmation of array CGH results and determination of inheritance.

@ast

MLPA for confirmation of array CGH results and determination of inheritance.

@en

MLPA for confirmation of array CGH results and determination of inheritance.

@nl

prefLabel

MLPA for confirmation of array CGH results and determination of inheritance.

@ast

MLPA for confirmation of array CGH results and determination of inheritance.

@en

MLPA for confirmation of array CGH results and determination of inheritance.

@nl

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P1433

Molecular Cytogenetics

P1476

MLPA for confirmation of array CGH results and determination of inheritance.

@en

P2093

Alison Hills

http://www.w3.org/2001/XMLSchema#string

Caroline Mackie Ogilvie

http://www.w3.org/2001/XMLSchema#string

Celia Donaghue

http://www.w3.org/2001/XMLSchema#string

Helen Thomas

http://www.w3.org/2001/XMLSchema#string

Joo Wook Ahn

http://www.w3.org/2001/XMLSchema#string

Kathy Mann

http://www.w3.org/2001/XMLSchema#string

P2860

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

Strong association of de novo copy number mutations with autism

Microduplications of 16p11.2 are associated with schizophrenia

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

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

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

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.

Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays.

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.

P2888

P304

19

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scholarly article

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10.1186/1755-8166-3-19

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3

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2010-10-13T00:00:00Z

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47413854

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1024223009

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20942916

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P932

2964523

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