| scholarly article | Q13442814 |
| P50 | author | Gabriele Gillessen-Kaesbach | Q30170221 |
| Dagmar Wieczorek | Q30170225 | ||
| Jeremy Schwartzentruber | Q40283484 | ||
| Almuth Caliebe | Q40932590 | ||
| Roseli Maria Zechi-Ceide | Q47087856 | ||
| Denise Horn | Q56955997 | ||
| Dennis E Bulman | Q57320692 | ||
| Kym M Boycott | Q61638582 | ||
| Maria Leine Guion-Almeida | Q85759050 | ||
| Dorit Lev | Q86574561 | ||
| Jacek Majewski | Q110771035 | ||
| Usha Kini | Q113000986 | ||
| Chandree L Beaulieu | Q115667719 | ||
| P2093 | author name string | Yasemin Alanay | |
| Ute Hehr | |||
| Jürgen Kohlhase | |||
| Blanca Gener | |||
| Geneviève Baujat | |||
| Lijia Huang | |||
| Matthew A Lines | |||
| Caroline Nava | |||
| Dietmar R Lohmann | |||
| Detlef Böhm | |||
| Gulen Eda Utine | |||
| Stuart L Douglas | |||
| Arthur W Grix | |||
| Danielle C Lynch | |||
| P2860 | cites work | The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein | Q22003972 |
| An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2. | Q24318957 | ||
| Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I | Q24600454 | ||
| Exome sequencing identifies the cause of a mendelian disorder | Q24607742 | ||
| Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients | Q24643416 | ||
| Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
| Two crystal structures demonstrate large conformational changes in the eukaryotic ribosomal translocase | Q27640976 | ||
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| Genetic analysis reveals a role for the C terminus of the Saccharomyces cerevisiae GTPase Snu114 during spliceosome activation | Q27935130 | ||
| A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11) | Q28215649 | ||
| Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group | Q28273395 | ||
| ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 | ||
| Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). | Q34084780 | ||
| Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. | Q34153403 | ||
| Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities | Q35011856 | ||
| A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa | Q35136973 | ||
| A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | Q36499981 | ||
| The EF-G-like GTPase Snu114p regulates spliceosome dynamics mediated by Brr2p, a DExD/H box ATPase | Q37183473 | ||
| Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs | Q37417850 | ||
| Human U4/U6.U5 and U4atac/U6atac.U5 tri-snRNPs exhibit similar protein compositions | Q39674598 | ||
| The ribosomal translocase homologue Snu114p is involved in unwinding U4/U6 RNA during activation of the spliceosome | Q42724676 | ||
| Mutagenesis Suggests Several Roles of Snu114p in Pre-mRNA Splicing | Q44433316 | ||
| Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. | Q51937599 | ||
| Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? | Q84920973 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | microcephaly | Q431643 |
| haploinsufficiency | Q852654 | ||
| spliceosome | Q915868 | ||
| Franceschetti–Klein syndrome | Q17121234 | ||
| P304 | page(s) | 369-77 | |
| P577 | publication date | 2012-02-10 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly | |
| P478 | volume | 90 |
| Q55442546 | "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. |
| Q38013966 | A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease |
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| Q38417433 | A review of craniofacial disorders caused by spliceosomal defects |
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| Q34418393 | An integrative analysis of colon cancer identifies an essential function for PRPF6 in tumor growth |
| Q41931053 | Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly |
| Q34405353 | Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients |
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| Q34657837 | Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome |
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| Q60852037 | Developmental processes regulate craniofacial variation in disease and evolution |
| Q24299499 | Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 |
| Q40519839 | Differential expression of the aryl hydrocarbon receptor pathway associates with craniofacial polymorphism in sympatric Arctic charr. |
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| Q38097082 | Human facial dysostoses |
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| Q103803372 | Identity-by-descent detection across 487,409 British samples reveals fine scale population structure and ultra-rare variant associations |
| Q37397682 | Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability |
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| Q38617659 | Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update |
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| Q37107201 | Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease |
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| Q33787699 | PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases |
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