(Q57234004)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285831%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Mapping of a Hirschsprung's disease locus in 3p21 (English)

1 reference

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3 January 2020

main subject

Hirschsprung's disease

1 reference

3

1 reference

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3 January 2020

Vincent C.H. Lui

16

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3 January 2020

Stacey S. Cherny

17

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3 January 2020

Paul Kwong Hang Tam

19

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3 January 2020

15

Elly Sau-Wai Ngan

1 reference

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3 January 2020

11

Xiao-Bing Sun

1 reference

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3 January 2020

13

Jin-Fa Tou

1 reference

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3 January 2020

Kenneth Kak-Yuen Wong

14

object named as

Kenneth Kak-Yuen Wong

1 reference

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Maria-Mercè Garcia-Barcelo

3 January 2020

1

object named as

Maria-Mercè Garcia-Barceló

1 reference

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3 January 2020

4

Xiao-ping Miao

1 reference

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3 January 2020

author name string

Pui-yee Fong

2

1 reference

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3 January 2020

Man-ting So

5

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3 January 2020

Zhen-wei Yuan

6

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3 January 2020

Long Li

7

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3 January 2020

Wei-hong Guo

8

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3 January 2020

Lei Liu

9

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3 January 2020

Bin Wang

10

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3 January 2020

Pak-chung Sham

18

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3 January 2020

Liu-Ming Huang

12

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3 January 2020

publication date

20 February 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285831%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

3 January 2020

published in

1 reference

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3 January 2020

volume

16

1 reference

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3 January 2020

issue

7

1 reference

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3 January 2020

page(s)

833-840

1 reference

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.18

3 January 2020

exact match

0 references

cites work

Hirschsprung disease, associated syndromes, and genetics: a review

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Identifying candidate Hirschsprung disease-associated RET variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Segregation at three loci explains familial and population risk in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

A haplotype map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

CLUSTAG: hierarchical clustering and graph methods for selecting tag SNPs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

WHAP: haplotype-based association analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Haploview: analysis and visualization of LD and haplotype maps

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

The structure of haplotype blocks in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Plexin-B family members demonstrate non-redundant expression patterns in the developing mouse nervous system: an anatomical basis for morphogenetic effects of Sema4D during development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Scotin, a novel p53-inducible proapoptotic protein located in the ER and the nuclear membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

p73-alpha is capable of inducing scotin and ER stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Mechanism of induction of apoptosis by p73 and its relevance to neuroblastoma biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Molecular mechanisms of RET-induced Hirschsprung pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

inferred from DOI database lookup

7 January 2021

based on heuristic

Plexins, semaphorins, and scatter factor receptors: a common root for cell guidance signals?

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

inferred from DOI database lookup

7 January 2021

based on heuristic

Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.18

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2008.18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18285831%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference