Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
about
Mowat-Wilson syndromeHomozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.Mowat-Wilson syndromeSIP1/ZEB2 induces EMT by repressing genes of different epithelial cell-cell junctionsMice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndromeNeuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsA 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.Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.New insights into human enteric neuropathies.Human enteric neuropathies: morphology and molecular pathology.Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusTowards an evidence-based process for the clinical interpretation of copy number variationAdvances in molecular genetics of Hirschsprung's disease.Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Clinical utility gene card for: Mowat-Wilson syndromeKnockout mouse models of Hirschsprung's disease.Expanding roles of ZEB factors in tumorigenesis and tumor progression.Interaction between Smad-interacting protein-1 and the corepressor C-terminal binding protein is dispensable for transcriptional repression of E-cadherin.ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.Prevalence of gastrointestinal disorders in adult clients with pervasive developmental disorders.Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.Expression and function of the Transforming Growth Factor-b system in the human and rat enteric nervous system.CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
P2860
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P2860
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
description
2001 nî lūn-bûn
@nan
2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Large-scale deletions and SMAD ...... olvement of midline structures
@nl
Large-scale deletions and SMAD ...... lvement of midline structures.
@ast
Large-scale deletions and SMAD ...... lvement of midline structures.
@en
Large-scale deletions and SMAD ...... lvement of midline structures.
@en-gb
type
label
Large-scale deletions and SMAD ...... olvement of midline structures
@nl
Large-scale deletions and SMAD ...... lvement of midline structures.
@ast
Large-scale deletions and SMAD ...... lvement of midline structures.
@en
Large-scale deletions and SMAD ...... lvement of midline structures.
@en-gb
prefLabel
Large-scale deletions and SMAD ...... olvement of midline structures
@nl
Large-scale deletions and SMAD ...... lvement of midline structures.
@ast
Large-scale deletions and SMAD ...... lvement of midline structures.
@en
Large-scale deletions and SMAD ...... lvement of midline structures.
@en-gb
P2093
P2860
P50
P356
P1476
Large-scale deletions and SMAD ...... olvement of midline structures
@en
P2093
Espinosa-Parrilla Y
Le Merrer M
P2860
P304
P356
10.1086/324342
P407
P577
2001-10-10T00:00:00Z