(Q46773066)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

main subject

South Africa

0 references

Hirschsprung's disease

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

M G Julies

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

S W Moore

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

L du Plessis

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 June 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

9 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

419-423

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11436122%20AND%20SRC:MED&resulttype=core&format=json

The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Familial Aspects of Hirschsprung's Disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Hirschsprung's disease: clinical and experimental observations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Mutations of the RET proto-oncogene in Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Frequency of RET mutations in long- and short-segment Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

A novel polymorphism in the coding sequence of the human RET proto-oncogene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Cadherin cell adhesion receptors as a morphogenetic regulator

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Solution structure of the epithelial cadherin domain responsible for selective cell adhesion.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Characterization of a multicomponent receptor for GDNF.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200650

7 January 2021