about
The Greig cephalopolysyndactyly syndromeComputational prediction and experimental verification of new MAP kinase docking sites and substrates including Gli transcription factorsA sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathyHuman intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb developmentAcromelia-oligodontia syndrome.A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.Polydactyly: how many disorders and how many genes? 2010 update.Review of literature: genes related to postaxial polydactyly.Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.GLI3 constrains digit number by controlling both progenitor proliferation and BMP-dependent exit to chondrogenesis.Identification of 9 uterine genes that are regulated during mouse pregnancy and exhibit abnormal levels in the cyclooxygenase-1 knockout mouse.Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlationsIdentification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.Diagnosis and management of epilepsy associated with hypothalamic hamartoma: an evidence-based systematic review.The molecular basis of human congenital limb malformations.Polydactyly: phenotypes, genetics and classification.Pallister-Hall syndrome has gone the way of modern medical genetics.GLI3-related polydactyly: a review.Analysis of the polymorphisms in the caprine Gli3 gene and their associations with production traits in goats.Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.Reduced Mid1 Expression and Delayed Neuromotor Development in daDREAM Transgenic Mice.Upper urinary tract pacemaker cells join the GLI club.A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient.Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.
P2860
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P2860
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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name
What you can learn from one gene: GLI3
@ast
What you can learn from one gene: GLI3
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type
label
What you can learn from one gene: GLI3
@ast
What you can learn from one gene: GLI3
@en
prefLabel
What you can learn from one gene: GLI3
@ast
What you can learn from one gene: GLI3
@en
P2860
P356
P1476
What you can learn from one gene: GLI3
@en
P2093
L G Biesecker
P2860
P304
P356
10.1136/JMG.2004.029181
P407
P577
2006-06-01T00:00:00Z