Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
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A. Hoischen | T. Strom | J. Veltman | F. Cremers | L. Hoefsloot | C. Gilissen | H. Scheffer | Nienke Wieskamp | P. Arts | C. Ayuso | R. Collin | E. Blokland | A. Mukhopadhyay | K. Nikopoulos | C. E. van Nouhuys | Mauk A D Tilanus | F. N. Boonstra | Sanne Bouwhuis | C. Erik van Nouhuys
[1] P. Shannon,et al. Exome sequencing identifies the cause of a Mendelian disorder , 2009, Nature Genetics.
[2] D. Rice,et al. TSPAN12 Regulates Retinal Vascular Development by Promoting Norrin- but Not Wnt-Induced FZD4/β-Catenin Signaling , 2009, Cell.
[3] F. Cremers,et al. Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. , 2009, Investigative ophthalmology & visual science.
[4] Dmitry Pushkarev,et al. Single-molecule sequencing of an individual human genome , 2009, Nature Biotechnology.
[5] J. Whelan,et al. Pentatricopeptide repeat domain protein 1 lowers the levels of mitochondrial leucine tRNAs in cells , 2009, Nucleic acids research.
[6] J. Shendure,et al. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. , 2009, American journal of human genetics.
[7] D. Guernsey,et al. Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees , 2009, Ophthalmic genetics.
[8] Emily H Turner,et al. Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes , 2009, Nature.
[9] Dawei Li,et al. The diploid genome sequence of an Asian individual , 2008, Nature.
[10] M. Wang,et al. A model for familial exudative vitreoretinopathy caused by LPR5 mutations. , 2008, Human molecular genetics.
[11] S. Feil,et al. Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled‐4 , 2008, The European journal of neuroscience.
[12] R. DeSalle,et al. Appearance of new tetraspanin genes during vertebrate evolution. , 2008, Genomics.
[13] Marcus Fruttiger,et al. Development of the retinal vasculature , 2007, Angiogenesis.
[14] David Haussler,et al. New Methods for Detecting Lineage-Specific Selection , 2006, RECOMB.
[15] M. Hemler. Tetraspanin functions and associated microdomains , 2005, Nature Reviews Molecular Cell Biology.
[16] Tom H. Lindner,et al. easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data , 2005, Bioinform..
[17] D. Haussler,et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. , 2005, Genome research.
[18] M. Trese,et al. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. , 2004, American journal of human genetics.
[19] N. Burton,et al. CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. , 2004, Blood.
[20] Kang Zhang,et al. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. , 2004, Investigative ophthalmology & visual science.
[21] J. Nathans,et al. Vascular Development in the Retina and Inner Ear Control by Norrin and Frizzled-4, a High-Affinity Ligand-Receptor Pair , 2004, Cell.
[22] V. Winfrey,et al. Processing, localization and binding activity of zonadhesin suggest a function in sperm adhesion to the zona pellucida during exocytosis of the acrosome. , 2003, The Biochemical journal.
[23] M. Hemler,et al. Specific tetraspanin functions , 2001, The Journal of cell biology.
[24] W. Murphy,et al. Resolution of the Early Placental Mammal Radiation Using Bayesian Phylogenetics , 2001, Science.
[25] J. Mullikin,et al. SSAHA: a fast search method for large DNA databases. , 2001, Genome research.
[26] A. Meindl,et al. A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation , 2000, Nature Genetics.
[27] E. Zrenner,et al. RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. , 1997, Journal of medical genetics.
[28] C. Inglehearn,et al. Mutations and polymorphisms in the human peripherin‐RDS gene and their involvement in inherited retinal degeneration , 1996, Human mutation.
[29] A. Fielder,et al. A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy , 1993, Nature genetics.
[30] X. Breakefield,et al. Characterization of a mutation within the NDP gene in a family with a manifesting female carrier. , 1993, Human molecular genetics.
[31] S. Mukai,et al. Familial Exudative Vitreoretinopathy , 2021, A Quick Guide to Pediatric Retina.
[32] C. E. Vannouhuys. Dominant exudative vitreoretinopathy. , 1985 .
[33] C. E. van Nouhuys. Dominant exudative vitreoretinopathy. , 1985, Ophthalmic paediatrics and genetics.
[34] J. Norris,et al. Autosomal dominant exudative vitreoretinopathy. , 1983, Archives of ophthalmology.
[35] C. E. Nouhuys,et al. Dominant Exudative Vitreoretinopathy and other Vascular Developmental Disorders of the Peripheral Retina , 1982, Monographs in Opthalmology 5.
[36] C. Canny,et al. Fluorescein angiographic findings in familial exudative vitreoretinopathy. , 1976, Archives of ophthalmology.
[37] G. Oliver,et al. Familial exudative vitreoretinopathy. An expanded view. , 1971, Archives of ophthalmology.
[38] V. G. Criswick,et al. Familial exudative vitreoretinopathy. , 1969, American journal of ophthalmology.