Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

Item
http://www.wikidata.org/entity/Q28202625
Q28158185
sameAs
Histogenesis of retinal dysplasia in trisomy 13Functional analysis of mutations in TGIF associated with holoprosencephaly.The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological ConsiderationsDcode.org anthology of comparative genomic toolsThe TGF-β/Smad repressor TG-interacting factor 1 (TGIF1) plays a role in radiation-induced intestinal injury independently of a Smad signaling pathwayEmbryonic fibroblasts from mice lacking Tgif were defective in cell cyclingLoss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.Holoprosencephaly.Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and PhenotypeNOTCH, a new signaling pathway implicated in holoprosencephaly.Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotypeExome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.Identification of large rearrangements in cancer genomes with barcode linked reads.
P2860

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

Item
http://www.wikidata.org/entity/Q28202625
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Molecular screening of the TGI ...... ication of two novel mutations
@ast
Molecular screening of the TGI ...... ication of two novel mutations
@en
Molecular screening of the TGI ...... ication of two novel mutations
@nl
type
label
Molecular screening of the TGI ...... ication of two novel mutations
@ast
Molecular screening of the TGI ...... ication of two novel mutations
@en
Molecular screening of the TGI ...... ication of two novel mutations
@nl
prefLabel
Molecular screening of the TGI ...... ication of two novel mutations
@ast
Molecular screening of the TGI ...... ication of two novel mutations
@en
Molecular screening of the TGI ...... ication of two novel mutations
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P921
P356
P1433
P1476
Molecular screening of the TGI ...... ication of two novel mutations
@en
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P921