Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
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Facial dysostoses: Etiology, pathogenesis and managementEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseAltered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisOto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.Regulation of toll-like receptor signaling by the SF3a mRNA splicing complex.Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndromeHuman facial dysostoses.Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research.Genomic approaches for studying craniofacial disorders.A review of craniofacial disorders caused by spliceosomal defects.Review of the Genetic Basis of Jaw Malformations.Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.Modeling human craniofacial disorders in Xenopus.A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.Synchronous Bilateral Breast Cancer in a Patient With Nager Syndrome.Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.
P2860
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P2860
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
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2013 nî lūn-bûn
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2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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name
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
@ast
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
@en
type
label
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
@ast
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
@en
prefLabel
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
@ast
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
@en
P2093
P2860
P1433
P1476
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
@en
P2093
A J Hoogeboom
A Kuechler
B Albrecht
D Fitzpatrick
D R Goudie
D Wieczorek
H Kayserili
H-J Lüdecke
P2860
P2888
P304
P356
10.1007/S00439-013-1295-2
P577
2013-04-09T00:00:00Z
P6179
1039728984