DOI: 10.1086/318790. A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13

A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13

10.1086/318790

Crossref journal-article

Elsevier BV

The American Journal of Human Genetics (78)

Bibliography

Downey, L. M., Keen, T. J., Roberts, E., Mansfield, D. C., Bamashmus, M., & Inglehearn, C. F. (2001). A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13. The American Journal of Human Genetics, 68(3), 778â781.

Authors 6

L.M. Downey (first)
T.J. Keen (additional)
E. Roberts (additional)
D.C. Mansfield (additional)
M. Bamashmus (additional)
C.F. Inglehearn (additional)

References 17 Referenced 53

10.1136/bjo.84.4.358 / Br J Ophthalmol / Genetic heterogeneity in familial exudative vitreoretinopathy: exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree by Bamashmus (2000)
{'key': '10.1086/318790_bib2', 'first-page': '473', 'article-title': 'Familial exudative vitreoretinopathy', 'volume': '93', 'author': 'Benson', 'year': '1995', 'journal-title': 'Trans Am Ophthalmol Soc'} / Trans Am Ophthalmol Soc / Familial exudative vitreoretinopathy by Benson (1995)
10.1038/ng1093-180 / Nat Genet / A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy by Chen (1993)
10.1006/geno.1993.1224 / Genomics / Norrie disease gene: characterisation of deletions and possible function by Chen (1993)
10.1016/0002-9394(69)91237-9 / Am J Ophthalmol / Familial exudative vitreoretinopathy by Criswick (1969)
10.1034/j.1399-0004.1998.5440409.x / Clin Genet / Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity by De Crecchio (1998)
10.1136/bjo.77.3.168 / Br J Ophthalmol / X-linked exudative vitreoretinopathy: clinical features and genetic linkage analysis by Fullwood (1993)
10.1542/peds.83.4.486 / Pediatrics / Retinopathy of prematurity: a new epidemic? by Gibson (1989)
{'key': '10.1086/318790_bib9', 'first-page': '1217', 'article-title': 'Vascularisation of the human fetal retina: roles of vasculogenesis and angiogenesis', 'volume': '41', 'author': 'Hughes', 'year': '2000', 'journal-title': 'Invest Ophthalmol Vis Sci'} / Invest Ophthalmol Vis Sci / Vascularisation of the human fetal retina: roles of vasculogenesis and angiogenesis by Hughes (2000)
{'key': '10.1086/318790_bib10', 'first-page': '749', 'article-title': 'The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533', 'volume': '51', 'author': 'Li', 'year': '1992', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533 by Li (1992)
10.1038/ng1092-139 / Nat Genet / Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins by Meindl (1992)
10.1016/S0161-6420(84)34119-7 / Ophthalmology / Retinal vascular pattern in familial exudative vitreoretinopathy by Miyakubo (1984)
10.1006/geno.1994.1176 / Genomics / Mapping of autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families by Muller (1994)
10.1136/bjo.64.2.112 / Br J Ophthalmol / Autosomal dominant exudative vitreoretinopathy by Ober (1980)
10.1001/archopht.1997.01100150606005 / Arch Ophthalmol / Racial variation in retinopathy of prematurity. The Cryotherapy for Retinopathy of Prematurity Cooperative Group by Saunders (1997)
10.1006/geno.1995.1052 / Genomics / Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy by Shastry (1995)
10.1001/archopht.1997.01100150653015 / Arch Ophthalmol / Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity by Shastry (1997)

Dates

Type	When
Created	23 years, 1 month ago (July 26, 2002, 1:31 p.m.)
Deposited	2 years, 4 months ago (April 22, 2023, 6:19 p.m.)
Indexed	5 days, 2 hours ago (Aug. 29, 2025, 6:22 a.m.)
Issued	24 years, 6 months ago (March 1, 2001)
Published	24 years, 6 months ago (March 1, 2001)
Published Print	24 years, 6 months ago (March 1, 2001)

Funders 0

None

BibTeX

@article{Downey_2001, title={A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13}, volume={68}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/318790}, DOI={10.1086/318790}, number={3}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Downey, L.M. and Keen, T.J. and Roberts, E. and Mansfield, D.C. and Bamashmus, M. and Inglehearn, C.F.}, year={2001}, month=mar, pages={778–781} }

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