(Q34986444)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19521704%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

review article

1 reference

title

Genetic basis of Hirschsprung's disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19521704%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19521704%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

author name string

Mercè Garcia-Barceló

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19521704%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

publication date

12 June 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19521704%20AND%20SRC:MED&resulttype=core&format=json

Pediatric Surgery International

31 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19521704%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19521704%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19521704%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

page(s)

543-558

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19521704%20AND%20SRC:MED&resulttype=core&format=json

Mutation of RET gene in Chinese patients with Hirschsprung's disease

31 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00383-009-2402-2

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00383-009-2402-2

A mutation in the RET proto-oncogene in Hirschsprung's disease affects the tyrosine kinase activity associated with multiple endocrine neoplasia type 2A and 2B

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00383-009-2402-2

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

12 December 2020

Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus

1 reference

12 December 2020

Is there a role for the IHH gene in Hirschsprung's disease?

1 reference

12 December 2020

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.

1 reference

12 December 2020

Localization and endothelin-3 dependence of stem cells of the enteric nervous system in the embryonic colon

1 reference

12 December 2020

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

1 reference

12 December 2020

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity

1 reference

12 December 2020

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

1 reference

12 December 2020

Identifying candidate Hirschsprung disease-associated RET variants

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization

1 reference

12 December 2020

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease

1 reference

12 December 2020

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

1 reference

12 December 2020

Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage

1 reference

12 December 2020

Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population

1 reference

12 December 2020

The contribution of associated congenital anomalies in understanding Hirschsprung's disease

1 reference

12 December 2020

Functional analysis of RET with Hirschsprung mutations affecting its kinase domain

1 reference

12 December 2020

Perturbation of hoxb5 signaling in vagal neural crests down-regulates ret leading to intestinal hypoganglionosis in mice

1 reference

12 December 2020

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

1 reference

12 December 2020

Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation

1 reference

12 December 2020

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site

1 reference

12 December 2020

Oncological implications of RET gene mutations in Hirschsprung's disease

1 reference

12 December 2020

Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease

1 reference

12 December 2020

Characterization of a multicomponent receptor for GDNF.

1 reference

12 December 2020

Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system

1 reference

12 December 2020

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

1 reference

12 December 2020

Molecular cloning of PTC, a new oncogene found activated in human thyroid papillary carcinomas and their lymph node metastases

1 reference

12 December 2020

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.

1 reference

12 December 2020

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

1 reference

12 December 2020

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene

1 reference

12 December 2020

A genetic study of Hirschsprung disease

1 reference

12 December 2020

Common and rare variants in multifactorial susceptibility to common diseases

1 reference

12 December 2020

The GDNF family: signalling, biological functions and therapeutic value

1 reference

12 December 2020

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

1 reference

12 December 2020

The Phox2b transcription factor coordinately regulates neuronal cell cycle exit and identity

1 reference

12 December 2020

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease

1 reference

12 December 2020

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

1 reference

12 December 2020

Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies

1 reference

12 December 2020

Compound effect ofPHOX2BandRETgene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease

1 reference

12 December 2020

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain

1 reference

12 December 2020

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

1 reference

12 December 2020

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

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12 December 2020

Expression of endothelin 3 by mesenchymal cells of embryonic mouse caecum

1 reference

12 December 2020

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

1 reference

12 December 2020

Renal and neuronal abnormalities in mice lacking GDNF

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12 December 2020

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

1 reference

12 December 2020

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.

1 reference

12 December 2020

Intestinal motility disorders and development of the enteric nervous system

1 reference

12 December 2020

Glial-derived neurotrophic factor in human adult and fetal intestine and in Hirschsprung's disease

1 reference

12 December 2020

Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement

1 reference

12 December 2020

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

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12 December 2020

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

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12 December 2020

Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome

1 reference

12 December 2020

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

1 reference

12 December 2020

Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.

1 reference

12 December 2020

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

1 reference

12 December 2020

Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene

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12 December 2020

Expression of the c-ret proto-oncogene during mouse embryogenesis

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12 December 2020

Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients

1 reference

12 December 2020

Genetic mapping in human disease

1 reference

12 December 2020

A Heterozygous Frameshift Mutation in the Endothelin-3 (EDN-3) Gene in Isolated Hirschsprung's Disease

1 reference

12 December 2020

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

1 reference

12 December 2020

Sonic hedgehog regulates the proliferation, differentiation, and migration of enteric neural crest cells in gut

1 reference

12 December 2020

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

1 reference

12 December 2020

Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Hirschsprung disease, associated syndromes, and genetics: a review

1 reference

12 December 2020

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Ret protein in the human fetal rectum.

1 reference

12 December 2020

Low frequency of RET mutations in Hirschsprung disease in Sweden

1 reference

12 December 2020

Idiopathic slow transit constipation and megacolon are not associated with neurturin mutations

1 reference

12 December 2020

Temporally distinct requirements for endothelin receptor B in the generation and migration of gut neural crest stem cells

1 reference

12 December 2020

RET-deficient mice: an animal model for Hirschsprung's disease and renal agenesis.

1 reference

12 December 2020

Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?

1 reference

12 December 2020

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

1 reference

12 December 2020

Normalization and analysis of cDNA microarrays using within-array replications applied to neuroblastoma cell response to a cytokine.

1 reference

12 December 2020

Incidence of RET mutations in patients with Hirschsprung's disease

1 reference

12 December 2020

Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

1 reference

12 December 2020

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

1 reference

12 December 2020

RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease.

1 reference

12 December 2020

Hirschsprung associated GDNF mutations do not prevent RET activation.

1 reference

12 December 2020

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome

1 reference

12 December 2020

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

1 reference

12 December 2020

Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling

1 reference

12 December 2020

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies

1 reference

12 December 2020

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation.

1 reference

12 December 2020

Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease

1 reference

12 December 2020

Glial cell line-derived neurotrophic factor family receptors are abnormally expressed in aganglionic bowel of a subpopulation of patients with Hirschsprung's disease

1 reference

12 December 2020

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease

1 reference

12 December 2020

Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors.

1 reference

12 December 2020

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

1 reference

12 December 2020

Hedgehog signal transduction: from flies to vertebrates

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

1 reference

12 December 2020

PMX2B, a new candidate gene for Hirschsprung's disease.

1 reference

12 December 2020

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

1 reference

12 December 2020

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

12 December 2020

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

1 reference

12 December 2020

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

1 reference

12 December 2020

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

1 reference

12 December 2020

A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease

1 reference

12 December 2020

Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence

1 reference

12 December 2020

Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis.

1 reference

12 December 2020

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

1 reference

12 December 2020

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

1 reference

12 December 2020

Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease

1 reference

12 December 2020

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

1 reference

12 December 2020

Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Hirschsprung disease is linked to defects in neural crest stem cell function

1 reference

12 December 2020

Loss of function effect of RET mutations causing Hirschsprung disease.

1 reference

12 December 2020

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease

1 reference

12 December 2020

Mapping of a Hirschsprung's disease locus in 3p21

1 reference

12 December 2020

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

1 reference

12 December 2020

Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease

1 reference

12 December 2020

Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET.

1 reference

12 December 2020

HOXB5 expression is spatially and temporarily regulated in human embryonic gut during neural crest cell colonization and differentiation of enteric neuroblasts.

1 reference

12 December 2020

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

1 reference

12 December 2020

Gdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in mice

1 reference

12 December 2020

PHOX2B mutations and genetic predisposition to neuroblastoma

1 reference

12 December 2020

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

1 reference

12 December 2020

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

1 reference

12 December 2020

Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease

1 reference

12 December 2020

Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?

1 reference

12 December 2020

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

1 reference

12 December 2020

Molecular genetics of Hirschsprung's disease.

1 reference

12 December 2020

Hedgehog signals regulate multiple aspects of gastrointestinal development

1 reference

12 December 2020

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

1 reference

12 December 2020

Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

1 reference

12 December 2020

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

1 reference

12 December 2020

PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas

1 reference

12 December 2020

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

1 reference

12 December 2020

The sacral neural crest contributes neurons and glia to the post-umbilical gut: spatiotemporal analysis of the development of the enteric nervous system

1 reference

12 December 2020

A duplication in the L1CAM gene associated with X-linked hydrocephalus

1 reference

12 December 2020

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1 reference

12 December 2020

Prokineticin-1 modulates proliferation and differentiation of enteric neural crest cells

1 reference

12 December 2020

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

1 reference

12 December 2020

Correlation between genetic variations in Hox clusters and Hirschsprung's disease.

1 reference

12 December 2020

The oncogene associated with human papillary thyroid carcinoma (PTC) is assigned to chromosome 10 q11-q12 in the same region as multiple endocrine neoplasia type 2A (MEN2A).

1 reference

12 December 2020

Association of megacolon with a new dominant spotting gene (Dom) in the mouse

1 reference

12 December 2020

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

1 reference

12 December 2020

Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.

1 reference

12 December 2020

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

1 reference

12 December 2020

EDNRB/EDN3 and Hirschsprung disease type II.

1 reference

12 December 2020

Hirschsprung disease, associated syndromes and genetics: a review

1 reference

12 December 2020

Expression of neural cell adhesion molecule L1 during development, in neurological mutants and in the peripheral nervous system

1 reference

12 December 2020

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

1 reference

12 December 2020

GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys.

1 reference

12 December 2020

Early history of the therapy of Hirschsprung's disease: facts and personal observations over 50 years

1 reference

12 December 2020

The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

1 reference

12 December 2020

Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease

1 reference

12 December 2020

Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

1 reference

12 December 2020