The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
about
The Greig cephalopolysyndactyly syndromeThe sonic hedgehog-patched-gli pathway in human development and diseaseCooperative E-box regulation of human GLI1 by TWIST and USFThe expression of Gli3, regulated by HOXD13, may play a role in idiopathic congenital talipes equinovarusEpidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM).Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers.Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb developmentGenetic disorders of the skeleton: a developmental approachMolecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsThe VACTERL association: lessons from the Sonic hedgehog pathway.SALL1 mutations in Townes-Brocks syndrome and related disorders.Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity.Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.The developmental program of the hypothalamus and its disorders.Molecular-pathogenetic classification of genetic disorders of the skeleton.Polydactyly: how many disorders and how many genes?Polydactyly: how many disorders and how many genes? 2010 update.Review of literature: genes related to postaxial polydactyly.The Hedgehog signaling pathway--implications for drug targets in cancer and neurodegenerative disorders.Identification and functional characterization of novel transcriptional enhancers involved in regulating human GLI3 expression during early development.Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlationsWhat you can learn from one gene: GLI3The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosisSonic Hedgehog Signaling and VACTERL Association.Hedgehog signaling in development and homeostasis of the gastrointestinal tract.Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.Tooth agenesis: from molecular genetics to molecular dentistry.The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile.Polydactyly: phenotypes, genetics and classification.Primary cilia in neurodevelopmental disorders.Pallister-Hall syndrome has gone the way of modern medical genetics.Advances in the molecular genetics of non-syndromic polydactyly.GLI3-related polydactyly: a review.Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.A novel Gli3 enhancer controls the Gli3 spatiotemporal expression pattern through a TALE homeodomain protein binding siteSonic hedgehog.Hedgehog pathway mutations in T-cell acute lymphoblastic leukemia.Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
P2860
Q21202918-547D3674-3EB5-4A0A-9B3F-92C15852C4C3Q24290288-ED7D4576-0C01-4FF0-9713-C9FB28D6525CQ28214475-3E045BEC-6672-478E-A627-61CBA10E97CAQ28854334-9832DB22-CBC1-481C-8BCB-F1F9552B60F6Q30590988-5939C0C2-71F6-4DB0-AE11-204E7069AD4CQ33281754-E2522B81-FEF7-46B8-93D0-A456B0305DFBQ33567281-0E63CF07-9062-4568-8090-DC521476F012Q33906292-C68EA3EE-1C69-4C97-A0D3-5ABE58713102Q33942141-BECD9940-3DCE-42C4-8D19-4B395B734834Q33947379-D2EED0E5-BC2F-4721-B11D-E167D8925BE6Q34096518-32294E20-4BE8-47A5-8954-DBADD434C705Q34141916-1648404C-84C7-4ECF-B184-90824F10D415Q34146314-02178C35-AF95-4184-AFA9-2151A36ADE21Q34164167-A3496B68-15C8-46CE-91D5-7DAFAB0E8919Q34421524-D2D573E0-15E6-49AB-8A23-CD4D428522C7Q34561450-CE75F54F-FC64-408C-ACDE-0CDF1FD4D0FEQ34926858-5E644C35-3532-4D97-9EC5-2273A9457BC3Q34929970-17B883A6-7303-4780-B101-D74D00B7AD93Q35071649-FCB5AAD2-C89C-4A08-8222-D1586A9C3D46Q35164669-E22A0A1C-00FA-4BFD-9048-82725A02BF02Q36173741-AF2EE17B-DD9E-4701-AE55-43CBF73B5E73Q36336477-D2FC050E-BB91-41C7-93B7-1C9DC7072BEFQ36494996-A88B4BE2-92BD-46A5-8F0F-4A97E2820061Q36695886-08304F3C-4A19-4E6A-9B10-F9F59A1BF6C7Q36802365-D54A8416-1C9A-451D-B1BE-2781C29AB169Q36967679-9E91CCA2-FE2E-4B31-B81D-28C344D01890Q37089385-BE5CFB4B-68F4-4D29-A806-09F949A13E4DQ37198331-51B355A8-146A-45AE-A284-744E03D7BF85Q37421448-633F580F-32C2-4215-B8D3-D5ED90778B36Q38051564-0757E5CA-BA98-474C-B0E2-F972A2FCF76EQ38135913-9266D239-EBB8-4B88-84A7-827ACAE5F0D1Q38168054-F15A3667-C43F-4164-B815-B8017F067573Q38271423-3F7D2D37-2691-4186-BA6F-512BC0E686F1Q38619708-3EE2FBD9-952B-4D1C-BFA8-2C8D42EBBCD1Q39146281-1C27F17E-0E46-4269-A65B-1709272A08DDQ40086730-A08BC3B1-0031-4169-879B-506D33CEDF51Q42799802-ABD0F50D-CCA7-4837-AE59-E0D115CE96D1Q42937677-B972C034-32F2-4D53-9943-52A30B78B457Q43175206-40E87569-754B-4214-B85E-03FEECCDD1CCQ44996972-46FC4916-8D59-4A82-9EF4-7CA268E4FDBB
P2860
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
name
The phenotypic spectrum of GLI ...... he position of GLI3 mutations.
@ast
The phenotypic spectrum of GLI ...... he position of GLI3 mutations.
@en
The phenotypic spectrum of GLI ...... he position of GLI3 mutations.
@nl
type
label
The phenotypic spectrum of GLI ...... he position of GLI3 mutations.
@ast
The phenotypic spectrum of GLI ...... he position of GLI3 mutations.
@en
The phenotypic spectrum of GLI ...... he position of GLI3 mutations.
@nl
prefLabel
The phenotypic spectrum of GLI ...... he position of GLI3 mutations.
@ast
The phenotypic spectrum of GLI ...... he position of GLI3 mutations.
@en
The phenotypic spectrum of GLI ...... he position of GLI3 mutations.
@nl
P2093
P2860
P356
P1476
The phenotypic spectrum of GLI ...... he position of GLI3 mutations.
@en
P2093
Bornholdt D
Grzeschik KH
Radhakrishna U
P2860
P304
P356
10.1086/302557
P407
P577
1999-09-01T00:00:00Z