Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.
about
Fluorescence in situ hybridization analysis with a tissue microarray: 'FISH and chips' analysis of pathology archives.Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.Genomic analyses as a guide to target identification and preclinical testing of mouse models of breast cancerArray-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis.Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice.Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.Molecular cytogenetics of lymphoma: where do we stand in 2010?Two Novel GLDC Mutations in a Neonate with Nonketotic HyperglycinemiaAccurate quantification of chromosomal lesions via short tandem repeat analysis using minimal amounts of DNADesign, Validation, and Clinical Implementation of a Gap-Polymerase Chain Reaction Method for α-Thalassemia Genotyping Using Capillary Electrophoresis.Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family.
P2860
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P2860
Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 02 June 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Gene dosage methods as diagnos ...... n of chromosome abnormalities.
@en
Gene dosage methods as diagnos ...... n of chromosome abnormalities.
@nl
type
label
Gene dosage methods as diagnos ...... n of chromosome abnormalities.
@en
Gene dosage methods as diagnos ...... n of chromosome abnormalities.
@nl
prefLabel
Gene dosage methods as diagnos ...... n of chromosome abnormalities.
@en
Gene dosage methods as diagnos ...... n of chromosome abnormalities.
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P50
P1476
Gene dosage methods as diagnos ...... on of chromosome abnormalities
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P2093
P304
P356
10.1016/J.PATBIO.2008.03.010
P577
2008-06-02T00:00:00Z