about
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypesDlx genes, p63, and ectodermal dysplasias.Familial ectrodactyly syndrome in a nigerian child: a case reportThe novel ubiquitin ligase complex, SCF(Fbxw4), interacts with the COP9 signalosome in an F-box dependent manner, is mutated, lost and under-expressed in human cancersSp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb developmentHand/foot splitting and the 're-evolution' of mesopodial skeletal elements during the evolution and radiation of chameleonsEctrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare CombinationMapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Phenotypic subregions within the split-hand/foot malformation 1 locus.Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformationHoloprosencephaly and ectrodactyly: Report of three new patients and review of the literature.Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.p63 in skin development and ectodermal dysplasias.Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complexDeletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.The C-terminus of p63 contains multiple regulatory elements with different functions.Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 geneCongenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.An unusual occurrence of Karsch-Neugebauer syndrome with orodental anomalies.Dinosaurs, Chameleons, Humans, and Evo-Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of "Monsters," and Goldschmidt Hopeful "Monsters".Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.Possible association between acetazolamide administration during pregnancy and multiple congenital malformations.A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report.FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.Split-hand/foot malformation - molecular cause and implications in genetic counseling.Mechanisms of digit formation: Human malformation syndromes tell the story.A symphony of regulations centered on p63 to control development of ectoderm-derived structures.Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography.The molecular basis of human congenital limb malformations.Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies.Split-hand/feet malformation in three tamilian families and review of the reports from India.The Classification of Swanson for Congenital Anomalies of Upper Limb Modified by the Japanese Society for Surgery of the Hand (JSSH).FGF8, c-Abl and p300 participate in a pathway that controls stability and function of the ΔNp63α protein.Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography.Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին 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
Pathogenesis of split-hand/split-foot malformation.
@ast
Pathogenesis of split-hand/split-foot malformation.
@en
type
label
Pathogenesis of split-hand/split-foot malformation.
@ast
Pathogenesis of split-hand/split-foot malformation.
@en
prefLabel
Pathogenesis of split-hand/split-foot malformation.
@ast
Pathogenesis of split-hand/split-foot malformation.
@en
P356
P1476
Pathogenesis of split-hand/split-foot malformation
@en
P2093
Han G Brunner
Pascal H G Duijf
P304
P356
10.1093/HMG/DDG090
P478
12 Spec No 1
P577
2003-04-01T00:00:00Z