(Q46388572)

21 December 2017

title

Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders (English)

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21 December 2017

author name string

Megan L Landsverk

1

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21 December 2017

Jing Wang

2

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21 December 2017

Eric S Schmitt

3

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21 December 2017

Amber N Pursley

4

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21 December 2017

Lee-Jun C Wong

5

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21 December 2017

publication date

10 March 2011

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21 December 2017

Molecular Genetics and Metabolism

published in

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21 December 2017

volume

103

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21 December 2017

issue

2

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21 December 2017

page(s)

148-152

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21 December 2017

Laboratory evaluation of urea cycle disorders

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

Genetic approach to prenatal diagnosis in urea cycle defects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

Detection of clinically relevant exonic copy-number changes by array CGH.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.003

10.1016/J.YMGME.2011.03.003

7 January 2021

Identifiers

DOI

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21 December 2017

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21 December 2017