(Q21091059)

English

Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study

scientific article

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study

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scholarly article

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Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study (English)

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spinal muscular atrophy

1 reference

based on heuristic

inferred from title

human pregnancy

1 reference

based on heuristic

inferred from title

pregnant person

1 reference

based on heuristic

inferred from title

population-based cohort study

1 reference

based on heuristic

inferred from title

muscular atrophy

1 reference

based on heuristic

inferred from title

8

object named as

Chih-Chao Yang

author given names

Chih-Chao

author last names

Yang

1 reference

PubMed publication ID

7 August 2022

10

object named as

Hong-Nerng Ho

author given names

Hong-Nerng

author last names

Ho

1 reference

PubMed publication ID

7 August 2022

11

object named as

Chien-Nan Lee

author given names

Chien-Nan

author last names

Lee

1 reference

PubMed publication ID

7 August 2022

object named as

Shin-Yu Lin

3

author given names

Shin-Yu

author last names

Lin

1 reference

PubMed publication ID

7 August 2022

author name string

Yi-Ning Su

1

author given names

Yi-Ning

author last names

Su

1 reference

PubMed publication ID

7 August 2022

Chia-Cheng Hung

2

author given names

Chia-Cheng

author last names

Hung

1 reference

PubMed publication ID

7 August 2022

Fang-Yi Chen

4

author given names

Fang-Yi

author last names

Chen

1 reference

PubMed publication ID

7 August 2022

Jimmy P S Chern

5

author given names

Jimmy P S

author last names

Chern

1 reference

PubMed publication ID

7 August 2022

Chris Tsai

6

author given names

Chris

author last names

Tsai

1 reference

PubMed publication ID

7 August 2022

Tai-Sheng Chang

7

author given names

Tai-Sheng

author last names

Chang

1 reference

PubMed publication ID

7 August 2022

Hung Li

9

author given names

Hung

author last names

Li

1 reference

PubMed publication ID

7 August 2022

language of work or name

0 references

publication date

2011

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0 references

6

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2

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e17067

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copyright license

Creative Commons Attribution 4.0 International

25 February 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Carrier screening for spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

19 March 2017

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

7 April 2017

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Spinal muscular atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Genetic screening and counseling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

From new screens to discovered genes: the successful past and promising present of single gene disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Spinal muscular atrophy: molecular genetics and diagnostics.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Structure and organization of the human survival motor neurone (SMN) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

12 September 2017

Determination of SMN1 and SMN2 copy number using TaqMan technology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

27 September 2017

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

27 September 2017

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045421

30 May 2018

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017067

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017067

21 January 2018

Differences in SMN1 allele frequencies among ethnic groups within North America

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017067

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017067

21 January 2018

Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017067

21 January 2018

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017067

21 January 2018

ACOG committee opinion No. 432: spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017067

21 January 2018

Carrier incidence for spinal muscular atrophy in southern Chinese

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017067

21 January 2018

Unaffected patients with a homozygous absence of the SMN1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21364876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinal muscular atrophy: newborn and carrier screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/21364876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn and carrier screening for spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21364876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic risk assessment in carrier testing for spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21364876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21364876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21364876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classification of spinal muscular atrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/21364876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21364876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21364876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population screening and cascade testing for carriers of SMA

1 reference

https://pubmed.ncbi.nlm.nih.gov/21364876

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0017067

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2011PLoSO...617067S

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release_xkyoddj7pfhwda2q32t75smp3m

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PMC publication ID

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PubMed publication ID

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ResearchGate publication ID

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