Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens (Q28244756)

2

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Hui Zhu

3

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Viatcheslav R Akmaev

4

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Zhaoqing Zhou

5

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Elizabeth M Rohlfs

6

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Kerry Flynn

7

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Brant C Hendrickson

8

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Thomas Scholl

9

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Deborah Alexa Sirko-Osadsa

10

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Bernice A Allitto

European Journal of Human Genetics

11

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language of work or name

English

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publication date

January 2012

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published in

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volume

20

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issue

1

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page(s)

27-32

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cites work

A positive modifier of spinal muscular atrophy in the SMN2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Carrier screening for spinal muscular atrophy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Deaths: preliminary data for 2008.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Carrier testing for spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Increased nuchal translucency in euploid fetuses--what should we be telling the parents?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Determination of SMN1 and SMN2 copy number using TaqMan technology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Spinal muscular atrophy genetic testing experience at an academic medical center.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234503

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test

29 September 2017

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.134

Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.134

ACOG committee opinion No. 432: spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.134

Differences in SMN1 allele frequencies among ethnic groups within North America

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.134

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.134

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.134

New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations

21 January 2018

1 reference

12 December 2020

Large-scale population screening for spinal muscular atrophy: clinical implications

1 reference

12 December 2020

Newborn and carrier screening for spinal muscular atrophy

1 reference

12 December 2020

Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification

1 reference

12 December 2020

Nuchal translucency measurement in fetuses with spinal muscular atrophy

1 reference

12 December 2020

Population screening and cascade testing for carriers of SMA

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.134

1 reference

Dimensions Publication ID

1050720483

0 references

1 reference

1 reference

PubMed publication ID

21811307

1 reference