| scholarly article | Q13442814 |
| P50 | author | Alexander Hoischen | Q75069951 |
| Rob W J Collin | Q87654551 | ||
| Frans P M Cremers | Q92051039 | ||
| Lies H. Hoefsloot | Q113000985 | ||
| Tim M Strom | Q114316329 | ||
| Nienke Wieskamp | Q114442317 | ||
| Christian Gilissen | Q39793064 | ||
| Hans Scheffer | Q39998981 | ||
| Carmen Ayuso | Q43117839 | ||
| Joris A Veltman | Q57687954 | ||
| Peer Arts | Q59193857 | ||
| P2093 | author name string | F Nienke Boonstra | |
| Arijit Mukhopadhyay | |||
| Mauk A D Tilanus | |||
| Konstantinos Nikopoulos | |||
| Ellen A W Blokland | |||
| C Erik van Nouhuys | |||
| Sanne Bouwhuis | |||
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| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | exudative vitreoretinopathy | Q5432936 |
| P304 | page(s) | 240-247 | |
| P577 | publication date | 2010-02-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy | |
| P478 | volume | 86 |
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| Q47329117 | Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy |
| Q42360122 | Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments |
| Q35999462 | DNA sequencing: clinical applications of new DNA sequencing technologies. |
| Q91045529 | Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides |
| Q44763362 | Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. |
| Q34995007 | Deletion of LRP5 in VLDLR knockout mice inhibits retinal neovascularization |
| Q64095241 | Detection of , and Genes Variants in Malay Premature Babies with Retinopathy of Prematurity |
| Q34014694 | DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families |
| Q57786795 | Endothelial Cell-Specific Inactivation of TSPAN12 (Tetraspanin 12) Reveals Pathological Consequences of Barrier Defects in an Otherwise Intact Vasculature |
| Q61807958 | Exome Sequencing Identifies as a Novel Candidate Gene for Schizophrenia in the SCZD2 Locus at 11q14-21 |
| Q91623219 | Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy |
| Q34192920 | Exome sequencing: the sweet spot before whole genomes |
| Q28546836 | Expression and Subcellular Distribution of GFP-Tagged Human Tetraspanin Proteins in Saccharomyces cerevisiae |
| Q34100717 | FEPI-MB: identifying SNPs-disease association using a Markov Blanket-based approach |
| Q41932414 | Falciform macular folds and chromosome 22q11.2: evidence in support of a locus for familial exudative vitreoretinopathy (FEVR). |
| Q91898501 | Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums |
| Q34905378 | Familial exudative vitreoretinopathy and related retinopathies |
| Q50852365 | Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant. |
| Q38009067 | Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations |
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| Q51554319 | Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II. |
| Q36094613 | Fzd4 Haploinsufficiency Delays Retinal Revascularization in the Mouse Model of Oxygen Induced Retinopathy |
| Q37761136 | Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics |
| Q33790443 | Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing |
| Q37808270 | Genetic regulation of human brain development: lessons from Mendelian diseases |
| Q34396837 | Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity |
| Q21093659 | Genetic susceptibility to advanced retinopathy of prematurity (ROP) |
| Q36634712 | Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity. |
| Q47426442 | Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy |
| Q33944376 | Genomic approaches for the discovery of genes mutated in inherited retinal degeneration |
| Q41056647 | Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. |
| Q38791520 | Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy |
| Q34130018 | High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy |
| Q28596075 | Identification and characterization of microRNAs expressed in the African malaria vector Anopheles funestus life stages using high throughput sequencing |
| Q36245916 | Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy |
| Q36322338 | Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy. |
| Q98946622 | Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases |
| Q33806845 | Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders |
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| Q34086505 | Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. |
| Q36055785 | Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients |
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| Q37398115 | Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis |
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| Q35195347 | Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients |
| Q38202142 | Next-generation sequencing applied to rare diseases genomics |
| Q50431262 | Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells |
| Q34923327 | Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes |
| Q37142456 | Novel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathy |
| Q34217062 | Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy. |
| Q30537560 | Optimum designs for next-generation sequencing to discover rare variants for common complex disease |
| Q43117774 | Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. |
| Q41630160 | Pharmacologic Activation of Wnt Signaling by Lithium Normalizes Retinal Vasculature in a Murine Model of Familial Exudative Vitreoretinopathy |
| Q64994782 | Predicting human disease mutations and identifying drug targets from mouse gene knockout phenotyping campaigns. |
| Q35568660 | RNA-Seq: Improving Our Understanding of Retinal Biology and Disease |
| Q50312975 | Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. |
| Q38852399 | Regulation of A disintegrin and metalloproteinase (ADAM) family sheddases ADAM10 and ADAM17: The emerging role of tetraspanins and rhomboids. |
| Q37617231 | Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder |
| Q47341406 | Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies |
| Q37844489 | Revisiting Mendelian disorders through exome sequencing |
| Q39376860 | Scissor sisters: regulation of ADAM10 by the TspanC8 tetraspanins. |
| Q28659873 | Single Nucleotide Polymorphism (SNP) Detection and Genotype Calling from Massively Parallel Sequencing (MPS) Data |
| Q52586106 | Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models. |
| Q33912816 | Strategies for exome and genome sequence data analysis in disease-gene discovery projects |
| Q35910871 | Study of a US cohort supports the role of ZNF644 and high-grade myopia susceptibility. |
| Q42339167 | TSPAN12 Is a Norrin Co-receptor that Amplifies Frizzled4 Ligand Selectivity and Signaling. |
| Q34832513 | TSPAN12 is a critical factor for cancer-fibroblast cell contact-mediated cancer invasion |
| Q34157065 | Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. |
| Q34364893 | Tetraspanin TSPAN12 regulates tumor growth and metastasis and inhibits β-catenin degradation |
| Q37856398 | Tetraspanin protein contributions to cancer. |
| Q34914039 | Tetraspanins as regulators of the tumour microenvironment: implications for metastasis and therapeutic strategies. |
| Q37641852 | The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families |
| Q24627102 | The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease |
| Q24300299 | The TspanC8 subgroup of tetraspanins interacts with A disintegrin and metalloprotease 10 (ADAM10) and regulates its maturation and cell surface expression |
| Q37958950 | The emerging role of tetraspanin microdomains on endothelial cells |
| Q36072007 | The next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity |
| Q50636049 | The ubiquitin ligase PDZRN3 is required for vascular morphogenesis through Wnt/planar cell polarity signalling |
| Q34451005 | The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus |
| Q37932636 | Unlocking Mendelian disease using exome sequencing |
| Q38955656 | Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12. |
| Q33954464 | Visualization of haplotype sharing patterns in pedigree samples |
| Q88976488 | WNT7A/B promote choroidal neovascularization |
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| Q26823272 | Wnt/β-catenin signaling and disease |
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| Q24293837 | ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature |
| Q84475626 | [Familial exudative vitreoretinopathy] |
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