(Q28119121)

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13 (English)

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

main subject

spinal muscular atrophy

1 reference

Putative inactive beta-glucuronidase-like protein SMA3

inferred from title

1 reference

nervous system development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

A M Theodosiou

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

K E Morrison

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

A M Nesbit

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

R J Daniels

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

L Campbell

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

M J Francis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Z Christodoulou

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

K E Davies

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

language of work or name

English

0 references

publication date

1 December 1994

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 October 2019

published in

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

55

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

6

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

1209-1217

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977382%20AND%20SRC:MED&resulttype=core&format=json

Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways

29 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Cloning, sequencing, and expression of cDNA for human beta-glucuronidase

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Construction of yeast artificial chromosome libraries with large inserts using fractionation by pulsed-field gel electrophoresis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Androgen responsiveness of the murine beta-glucuronidase gene is associated with nuclease hypersensitivity, protein binding, and haplotype-specific sequence diversity within intron 9.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Prenatal prediction 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=1918431

High resolution physical map of the region surrounding the spinal muscular atrophy gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

A clinical and genetic study of chronic proximal spinal muscular atrophy

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann Disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918431

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

27 November 2018

1 reference

12 December 2020

Clinical and genetic heterogeneity in spinal muscular atrophy--the multiple allele model

1 reference

12 December 2020

Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B

1 reference

12 December 2020

Refined Linkage Map of Chromosome 5 in the Region of the Spinal Muscular Atrophy Gene

1 reference

12 December 2020

Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)

1 reference

12 December 2020

Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681

1 reference

12 December 2020

Linkage mapping of the spinal muscular atrophy gene

1 reference

12 December 2020

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

12 December 2020

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

12 December 2020