Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations
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Histogenesis of retinal dysplasia in trisomy 13Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract developmentThe structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signalingMutations in the human SIX3 gene in holoprosencephaly are loss of functionMutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformationsExpression of Six3 Opposite Strand (Six3OS) during mouse embryonic developmentHoloprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humansHaploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephalyZic2 hypomorphic mutant mice as a schizophrenia model and ZIC2 mutations identified in schizophrenia patientsHoloprosencephaly.Single median maxillary central incisor: new data and mutation review.Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patientsThe molecular genetics of holoprosencephaly.Transcriptional landscape of the prenatal human brainHoloprosencephaly: recommendations for diagnosis and managementThe unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactionsNew findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.NOTCH, a new signaling pathway implicated in holoprosencephaly.Genetic links between brain development and brain evolution.Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionEndocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotypeThe discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.Molecular analysis of holoprosencephaly in South America.Control of mammalian kidney development by the Hedgehog signaling pathway.Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.Adrenocortical growth and cancer.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings.Beneficial effect of supplemental lipoic acid on diabetes-induced pregnancy loss in the mouse.High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.
P2860
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P2860
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Molecular screening of SHH, ZI ...... enotype-phenotype correlations
@ast
Molecular screening of SHH, ZI ...... enotype-phenotype correlations
@en
Molecular screening of SHH, ZI ...... enotype-phenotype correlations
@nl
type
label
Molecular screening of SHH, ZI ...... enotype-phenotype correlations
@ast
Molecular screening of SHH, ZI ...... enotype-phenotype correlations
@en
Molecular screening of SHH, ZI ...... enotype-phenotype correlations
@nl
prefLabel
Molecular screening of SHH, ZI ...... enotype-phenotype correlations
@ast
Molecular screening of SHH, ZI ...... enotype-phenotype correlations
@en
Molecular screening of SHH, ZI ...... enotype-phenotype correlations
@nl
P2093
P50
P356
P1433
P1476
Molecular screening of SHH, ZI ...... enotype-phenotype correlations
@en
P2093
Claude Bendavid
Franck Le Duff
Laurent Pasquier
Marie-Renée Durou
Martine Blayau
P356
10.1002/HUMU.20056
P407
P577
2004-07-01T00:00:00Z