scholarly article | Q13442814 |
P50 | author | Jay Shendure | Q15989781 |
Ethylin Wang Jabs | Q16226714 | ||
Jeremy Schwartzentruber | Q40283484 | ||
Peter H. Byers | Q43133307 | ||
A. Micheil Innes | Q55603472 | ||
Michael J Bamshad | Q88186017 | ||
François P. Bernier | Q91969027 | ||
Deborah A Nickerson | Q92804625 | ||
Jacek Majewski | Q110771035 | ||
Oana Caluseriu | Q113001000 | ||
Jillian S Parboosingh | Q114435061 | ||
FORGE Canada | Q115667715 | ||
Kati J Buckingham | Q117235372 | ||
P2093 | author name string | Julie Lauzon | |
Bridget A Fernandez | |||
Jeffrey W Innis | |||
Sarah Ng | |||
Gregor Andelfinger | |||
Richard H Scott | |||
Jerome L Gorski | |||
Victoria Siu | |||
Jane L Schuette | |||
Hilary Racher | |||
Margaret McMillin | |||
P2860 | cites work | The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site | Q24336717 |
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 | ||
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly | Q24633650 | ||
Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
Regulated pre-mRNA splicing: the ghostwriter of the eukaryotic genome | Q26861955 | ||
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
The Sequence Alignment/Map format and SAMtools | Q27860966 | ||
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11) | Q28215649 | ||
Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor | Q28280699 | ||
Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1 | Q28593785 | ||
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 | ||
Exome sequencing as a tool for Mendelian disease gene discovery | Q29615382 | ||
Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation | Q33285124 | ||
Autosomal recessive inheritance of Nager acrofacial dysostosis | Q33592621 | ||
Nager acrofacial dysostosis | Q33595799 | ||
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). | Q34084780 | ||
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa | Q35136973 | ||
Signals, pathways and splicing regulation | Q36824367 | ||
Bone morphogenetic protein signaling in limb outgrowth and patterning | Q36895878 | ||
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene | Q37277264 | ||
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs | Q37417850 | ||
Temporomandibular joint replacement for ankylosis correction in Nager syndrome: case report and review of the literature | Q37896840 | ||
Postaxial acrofacial dysostosis syndrome | Q39210007 | ||
Nager acrofacial dysostosis: male-to-male transmission in 2 families | Q41171711 | ||
Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genée and Wiedemann | Q43479961 | ||
Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son. | Q45468830 | ||
Acrofacial dysostoses | Q45492198 | ||
Developmental expression of the murine spliceosome-associated protein mSAP49. | Q46065063 | ||
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. | Q52088528 | ||
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes | Q71699516 | ||
Deletion of 1q in a patient with acrofacial dysostosis | Q74528951 | ||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | haploinsufficiency | Q852654 |
spliceosome | Q915868 | ||
P304 | page(s) | 925-933 | |
P577 | publication date | 2012-04-26 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome | |
P478 | volume | 90 |
Q55442546 | "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. |
Q34299848 | A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. |
Q24315833 | A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects |
Q38417433 | A review of craniofacial disorders caused by spliceosomal defects |
Q51267462 | A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. |
Q36060880 | Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. |
Q28595827 | Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis |
Q30613694 | Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome |
Q90024919 | Component of splicing factor SF3b plays a key role in translational control of polyribosomes on the endoplasmic reticulum |
Q34657837 | Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome |
Q37231380 | De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive |
Q33412977 | Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients |
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 |
Q33942299 | Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome |
Q41921860 | Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature |
Q47222829 | Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome |
Q35805964 | EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model |
Q53594036 | Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine. |
Q26991754 | Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease |
Q38175288 | Exome sequencing greatly expedites the progressive research of Mendelian diseases |
Q34000906 | FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project |
Q26863053 | Facial dysostoses: Etiology, pathogenesis and management |
Q91723572 | Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome |
Q36108386 | GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. |
Q38789651 | Genetic Screening in Patients with Craniofacial Malformations |
Q38154243 | Genomic approaches for studying craniofacial disorders |
Q92411317 | Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse |
Q38097082 | Human facial dysostoses |
Q92180784 | Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series |
Q28680739 | Insights into neural crest development and evolution from genomic analysis |
Q38617659 | Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update |
Q39159160 | Modeling human craniofacial disorders in Xenopus |
Q90014797 | Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations |
Q37010402 | Mutations in PIK3R1 cause SHORT syndrome |
Q50615596 | Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. |
Q42038690 | Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies |
Q51646718 | Nager syndrome and Pierre Robin sequence. |
Q45710867 | Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. |
Q88869535 | Neurocristopathies: New insights 150 years after the neural crest discovery |
Q28088384 | New insights into craniofacial malformations |
Q38029472 | Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders |
Q30451694 | Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations |
Q40273248 | RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans |
Q41930231 | Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. |
Q39130059 | Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses |
Q35556982 | Regulation of toll-like receptor signaling by the SF3a mRNA splicing complex. |
Q54306820 | Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing. |
Q39023021 | Review of the Genetic Basis of Jaw Malformations |
Q55059866 | Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. |
Q33430628 | Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans |
Q37298164 | SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant |
Q38709877 | SF3B4 is decreased in pancreatic cancer and inhibits the growth and migration of cancer cells |
Q89823721 | SF3b4: A Versatile Player in Eukaryotic Cells |
Q90413375 | Second-trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray |
Q28255525 | SeqHBase: a big data toolset for family based sequencing data analysis |
Q37022749 | Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome |
Q37220176 | Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders |
Q92116061 | Spliceosomopathies and neurocristopathies: two sides of the same coin? |
Q96163195 | Spliceosomopathies: diseases and mechanisms |
Q38187632 | Splicing factor mutations and cancer |
Q50430889 | Structural and functional analyses of the spliceosome requires a multi-disciplinary approach |
Q54877869 | Synchronous Bilateral Breast Cancer in a Patient With Nager Syndrome. |
Q90095955 | The SF3b complex: splicing and beyond |
Q36410173 | The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches |
Q33684451 | Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies |
Q49393183 | Variant snRNPs: New players within the spliceosome system |
Q30448491 | WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta |
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