Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
about
Histogenesis of retinal dysplasia in trisomy 13Identification of de novo mutations and rare variants in hypoplastic left heart syndromeMutations in the human SIX3 gene in holoprosencephaly are loss of functionHeterozygous mutations of OTX2 cause severe ocular malformationsGenetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiationNovel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionCumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephalyLoss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humansIt's all in your head: new insights into craniofacial development and deformationComplex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndromeFunctional analysis of mutations in TGIF associated with holoprosencephaly.Modeling congenital disease and inborn errors of development in Drosophila melanogasterHoloprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humansUnique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephalyCdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in miceMutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4Ectopia lentis phenotypes and the FBN1 geneHaploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephalyEmbryonic fibroblasts from mice lacking Tgif were defective in cell cyclingGas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehogTGIF inhibits retinoid signalingTgif1 regulates quiescence and self-renewal of hematopoietic stem cellsZebrafish con/disp1 reveals multiple spatiotemporal requirements for Hedgehog-signaling in craniofacial development.Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia.Holoprosencephaly.Single median maxillary central incisor: new data and mutation review.Detecting disease-associated genotype patternsThe molecular genetics of holoprosencephaly.Analysis of genotype-phenotype correlations in human holoprosencephaly.A primary cilia-dependent etiology for midline facial disorders.Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.Abnormal sterol metabolism in holoprosencephalyHoloprosencephaly: a guide to diagnosis and clinical managementBoc modifies the spectrum of holoprosencephaly in the absence of Gas1 functionSynergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosisMolecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in HumansQuantitative analyses link modulation of sonic hedgehog signaling to continuous variation in facial growth and shape
P2860
Q21203684-34961783-A3E5-4943-B738-5937DD648A93Q24298680-9D1D2365-0C86-4418-B6D5-5638AEDE9313Q24312256-30526E31-97A2-4D1F-94B9-C5CF9C83B70DQ24530768-4B337E5C-9A0D-47A3-B5E0-01AC791AB6EFQ24532021-90AEB653-F309-4F35-ADED-207D2ADE3006Q24618043-3643A772-06A1-48DC-A744-F40F22A2BCEDQ24619118-4DE95123-271C-4ACA-8E7C-5208B35ADE7AQ24642861-8509D164-55C8-4CB4-9E0D-D2CEC8E78F13Q24655626-0C3721E5-DBC3-4E7B-8655-0A274489A117Q24675572-45E87817-3B84-49C7-9C21-FCDE72F7B3ABQ24680375-193D2F49-D274-4862-9DA6-B320EA776A7AQ24681018-3C2DACBE-D98C-4D2B-8FFF-6AD2EA4E6C95Q26765017-B2A6CB93-055F-4E75-BD34-C16D09BBF8ABQ26824602-84DFC8DB-023A-4D55-A5FA-6A8790D1B7BEQ27301044-84155921-DD7F-4787-B258-E13D48E3777FQ27330705-4B38974F-E549-4920-BEC3-0FD0B5F3973BQ28238670-C6E46E27-5D06-44D6-A43A-A1D01DA3D857Q28253743-910A0DA8-46B6-45F5-9CA0-B36D81E15415Q28511215-CE8DB31D-89FD-4A9E-8134-6D7DC55C7607Q28512736-4E7915F5-CAEB-4A9C-B209-11A32234C8C2Q28588813-63CD5E5E-3769-40FA-9C2E-33CD8E3E6528Q28590970-BA7B2591-D27C-4AD5-B849-8776950A5E78Q30412861-1E495F64-AB3C-4650-9223-032707A0EA54Q30932086-72F7F621-3761-4562-9382-34078C072419Q31035731-9E8C7D7B-ACC7-46BB-B4C5-C663F9087369Q31097430-DE24B0B2-44B9-4797-A558-C99D1686736DQ31116560-F828CF70-D38D-4130-B502-A5509DD40E06Q33407958-A739F569-74AC-4262-A196-0DA28BEDEC6FQ33624762-6909B0FA-7C4B-43AF-827E-3E88C1CBF7AAQ33625707-3DE95ABA-B591-4DFE-BC6D-13F520407D1CQ33755851-084A4730-1B27-4943-968E-F4C37670D6DBQ33758266-5FCBA7CB-2BA9-4C5A-A31F-F60C40ABEB0CQ33911957-486AD538-A3A3-446D-83FF-C8A48CC3F267Q34041361-74F5A7BB-54AD-4458-A88D-099EDB847DC3Q34041428-0CE64F3E-63C3-4DEB-9AE0-0E270E6ED2A9Q34048812-4CEEA0E0-DF46-4636-AE34-18004CD52916Q34077781-F64E253A-17F7-45EC-AA18-00F2AC0964E6Q34129727-CE2C4524-30CF-4CA3-AC52-6109C664E0F5Q34139361-15E26753-1649-40CE-B45B-FEBA8CFA0F85Q34163437-10B5228F-CD69-4C0C-8A69-693C0660265F
P2860
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
description
2002 nî lūn-bûn
@nan
2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
@ast
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
@en
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
@nl
type
label
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
@ast
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
@en
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
@nl
prefLabel
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
@ast
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
@en
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
@nl
P2860
P356
P1476
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
@en
P2093
Jeffrey E Ming
P2860
P304
P356
10.1086/344412
P407
P577
2002-10-22T00:00:00Z