(Q34329535)

1 August 2017

title

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

1 reference

1 August 2017

Zhu Sheng-Yuan

1

1 reference

1 August 2017

Fu Xiong

2

1 reference

1 August 2017

Ya-Jun Chen

3

1 reference

1 August 2017

Ti-Zhen Yan

4

1 reference

1 August 2017

Jian Zeng

5

1 reference

1 August 2017

Liang Li

6

1 reference

1 August 2017

Ya-Ni Zhang

7

1 reference

1 August 2017

Wan-Qun Chen

8

1 reference

1 August 2017

Xin-Hua Bao

9

1 reference

1 August 2017

Cheng Zhang

10

1 reference

1 August 2017

Xiang-Min Xu

11

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1 August 2017

language of work or name

1 reference

5 May 2010

1 reference

European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

18

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1 August 2017

issue

9

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1 August 2017

page(s)

978-984

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

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

Spinal muscular atrophy: from gene to therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

Genetic evidence supports demic diffusion of Han culture

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

Determination of SMN1 and SMN2 copy number using TaqMan technology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

Y chromosome haplotypes reveal prehistorical migrations to the Himalayas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

Identification and characterization of a spinal muscular atrophy-determining gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987421

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.54

Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.54

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.54

Carrier incidence for spinal muscular atrophy in southern Chinese

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.54

Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.54

Development and evaluation of a reverse dot blot assay for the simultaneous detection of six common Chinese G6PD mutations and one polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.54

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.54

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

Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis

1 reference

12 December 2020

Population screening and cascade testing for carriers of SMA

1 reference

12 December 2020

Genetic risk assessment in carrier testing for spinal muscular atrophy

1 reference

12 December 2020

Detection of novel mutations in the SMN Tudor domain in type I SMA patients

1 reference

12 December 2020

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.54

1 reference

1 August 2017

1 reference

1 August 2017

1 reference