(Q42698438)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 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:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

André Reis

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Kathrin Saar

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

Grohmann K

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Wienker TF

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Rudnik-Schöneborn S

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Stoltenburg-Didinger G

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Rossi R

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Nürnberg G

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Pfeufer A

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Wirth B

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Zerres K

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Hübner C

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

English

0 references

publication date

1 November 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

1459-1462

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

1 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288300

Parametric and nonparametric linkage analysis: a unified multipoint approach

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288300

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288300

Easy calculations of lod scores and genetic risks on small computers

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288300

A new mouse mutant with progressive motor neuronopathy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288300

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288300

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288300

The mouse mutation progressive motor neuronopathy (pmn) maps to chromosome 13

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10521314

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10521314

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302636

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10521314%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

PubMed publication ID

10521314

1 reference