(Q55035683)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

title

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

main subject

spinal muscular atrophy

1 reference

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

author name string

Matthew D Mailman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

John W Heinz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Audrey C Papp

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Pamela J Snyder

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Mary S Sedra

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Brunhilde Wirth

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

Thomas W Prior

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

language of work or name

English

0 references

publication date

1 January 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

page(s)

20-26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1097/00125817-200201000-00004

7 December 2019

exact match

0 references

cites work

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

The genetic component in child mortality

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

Clinical and molecular genetic features of congenital spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

Unusual molecular findings in autosomal recessive spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

When is a deletion not a deletion? When it is converted

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

A mouse model for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200201000-00004

10.1097/00125817-200201000-00004

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11839954%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 December 2019

0 references

1 reference