(Q42064894)

15 October 2017

Apparent SMA I unlinked to 5q. (English)

1 reference

15 October 2017

2

1 reference

15 October 2017

Cobben JM

1

1 reference

15 October 2017

de Visser M

3

1 reference

15 October 2017

Begeer JH

4

1 reference

15 October 2017

Molenaar WM

5

1 reference

15 October 2017

van der Steege G

6

1 reference

15 October 2017

Buys CH

7

1 reference

15 October 2017

van Ommen GJ

8

1 reference

15 October 2017

Ten Kate LP

9

1 reference

15 October 2017

language of work or name

English

0 references

publication date

1 March 1994

1 reference

Journal of Medical Genetics

15 October 2017

1 reference

15 October 2017

31

1 reference

15 October 2017

3

1 reference

15 October 2017

242-244

1 reference

Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

Genetics of childhood spinal muscular atrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

X-linked infantile spinal muscular atrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

Linkage disequilibrium between two highly polymorphic microsatellites.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

Prenatal prediction of spinal muscular atrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049751

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

5 June 2018

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

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

1 reference

12 December 2020

Heterogeneity in proximal spinal muscular atrophy

1 reference

12 December 2020

Linkage and apparent heterogeneity in proximal spinal muscular atrophies

1 reference

12 December 2020

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.3.242

1 reference

15 October 2017

1 reference

15 October 2017

1 reference