DOI: 10.1086/515468. A New Locus for Dominant “Zonular Pulverulent” Cataract, on Chromosome 13

A New Locus for Dominant “Zonular Pulverulent” Cataract, on Chromosome 13

10.1086/515468

Crossref journal-article

Elsevier BV

The American Journal of Human Genetics (78)

Bibliography

Mackay, D., Ionides, A., Berry, V., Moore, A., Bhattacharya, S., & Shiels, A. (1997). A New Locus for Dominant âZonular Pulverulentâ Cataract, on Chromosome 13. The American Journal of Human Genetics, 60(6), 1474â1478.

Authors 6

Donna Mackay (first)
Alexander Ionides (additional)
Vanita Berry (additional)
Anthony Moore (additional)
Shomi Bhattacharya (additional)
Alan Shiels (additional)

References 34 Referenced 36

10.1038/ng0195-37 / Nat Genet / A progressively early onset cataract gene maps to human chromosome 17q24 by Armitage (1995)
10.1111/j.1469-1809.1988.tb01103.x / Ann Hum Genet / A computer program to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors by Attwood (1988)
10.1126/science.8266101 / Science / Connexin mutations in X-linked Charcot-Marie-Tooth Disease by Bergoffen (1993)
10.1093/hmg/5.3.415 / Hum Mol Genet / A locus for autosomal dominant anterior polar cataract on chromosome 17p by Berry (1996)
10.1093/hmg/3.2.279 / Hum Mol Genet / Activation of the γE-crystailin pseudogene in the human hereditary Coppock-like cataract by Brakenhoff (1994)
10.1056/NEJM199505183322002 / N Engl J Med / Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality by Britz-Cunningham (1995)
10.1038/ng0992-42 / Nat Genet / A frameshift mutation in the γE-crystallin gene of the Elo mouse by Cartier (1992)
10.1016/S0021-9258(20)89562-3 / J Biol Chem / Deletion mutation in an eye lens β-crystallin by Chambers (1991)
10.3109/02713689509033517 / Curr Eye Res / The human lens intrinsic membrane protein MP70 (CX50) gene: clonal analysis and chromosome mapping by Church (1995)
10.1038/380152a0 / Nature / A comprehensive genetic map of the human genome based on 5,264 microsatellites by Dib (1996)
10.1007/BF00214183 / Hum Genet / Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36 by Eiberg (1995)
10.1159/000309186 / Ophthalmologica / Genetics of cataract by Francois (1982)
10.1093/hmg/6.1.47 / Hum Mol Genet / A locus for autosomal dominant posterior polar cataract on chromosome 1p by Ionides (1997)
10.1006/geno.1996.0395 / Genomics / A second locus for cerulean cataract maps to the β-crystallin region on chromosome 22 by Kramer (1996)
10.1016/S0039-6257(96)82011-X / Surv Ophthalmol / Infantile cataracts by Lambert (1996)
10.1073/pnas.81.11.3443 / Proc Natl Acad Sci USA / Strategies for multipoint linkage analysis in humans by Lathrop (1984)
10.1111/j.1399-0004.1992.tb03634.x / Clin Genet / Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity by Lund (1992)
10.1111/j.1755-3768.1989.tb00745.x / Acta Ophthalmol / Autosmal dominant congenital cataract: morphology and genetic mapping by Marner (1989)
10.1006/geno.1996.0507 / Genomics / Mapping of rupture of lens cataract (rlc) on mouse chromosome 14 by Matsushima (1996)
10.1016/S0161-6420(79)35365-9 / Ophthalmology / Classification of hereditary cataracts in children by linkage analysis by Maumenee (1979)
{'key': '10.1086/515468_bib21', 'series-title': 'Online full-text database of Mendelian Inheritance in Man', 'author': 'McKusick', 'year': '1996'} / Online full-text database of Mendelian Inheritance in Man by McKusick (1996)
{'key': '10.1086/515468_bib22', 'series-title': 'Inherited eye disease: diagnosis and clinical management', 'first-page': '86', 'article-title': 'Inherited cataracts', 'author': 'Merin', 'year': '1991'} / Inherited eye disease: diagnosis and clinical management / Inherited cataracts by Merin (1991)
10.1159/000134183 / Cytogenet Cell Genet / Assignment of connexin 26 (GJB2) and 46 (GJB3) genes to human chromosome 13q11-q12 and mouse chromosome 14D1-E1 by in situ hybridisation by Mignon (1996)
{'key': '10.1086/515468_bib24', 'first-page': '188', 'article-title': 'Seven new pedigrees of hereditary cataract', 'volume': '29', 'author': 'Nettleship', 'year': '1909', 'journal-title': 'Trans Ophthalmol Soc UK'} / Trans Ophthalmol Soc UK / Seven new pedigrees of hereditary cataract by Nettleship (1909)
{'key': '10.1086/515468_bib25', 'first-page': '840', 'article-title': 'Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12', 'volume': '57', 'author': 'Padma', 'year': '1995', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12 by Padma (1995)
10.1083/jcb.115.4.1077 / J Cell Biol / Connexin 46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes by Paul (1991)
10.1111/j.1469-1809.1963.tb00782.x / Ann Hum Genet / Probable linkage between a congenital cataract locus and the duffy blood group locus by Renwick (1963)
{'key': '10.1086/515468_bib28', 'first-page': '570', 'article-title': 'Congenital cataract possibly linked to haptoglobin', 'volume': '37', 'author': 'Richards', 'year': '1984', 'journal-title': 'Cytogenet Cell Genet'} / Cytogenet Cell Genet / Congenital cataract possibly linked to haptoglobin by Richards (1984)
10.1016/0925-4439(92)90025-I / Biochim Biophys Acta / A guinea pig hereditary cataract contains a splice-site deletion in a crystallin gene by Rodriguez (1992)
10.1093/hmg/5.5.699 / Hum Mol Genet / Linkage of polymorphic congenital cataract to the γ-crystallin gene locus on human chromosome 2q33-q35 by Rogaev (1996)
{'key': '10.1086/515468_bib31', 'first-page': '149', 'article-title': 'The UK genome mapping project online computing service', 'volume': '8', 'author': 'Rysavy', 'year': '1992', 'journal-title': 'Comput Appl Biosci'} / Comput Appl Biosci / The UK genome mapping project online computing service by Rysavy (1992)
10.1007/BF01235758 / Somat Cell Mol Genet / Chromosomal assignments of mouse connexin genes, coding for gap-junctional proteins, by somatic cell hybridisation by Schwartz (1992)
10.1016/S0161-6420(94)31246-2 / Ophthalmology / Autosomal dominant congenital cataract-interocular phenotypic variability by Scott (1994)
10.1038/ng0296-212 / Nat Genet / Mutations in the founder of the MIP gene family underlie cataract development in the mouse by Shiels (1996)

Dates

Type	When
Created	17 years, 9 months ago (Dec. 4, 2007, 2:37 p.m.)
Deposited	4 years ago (Aug. 29, 2021, 5:36 p.m.)
Indexed	11 months, 4 weeks ago (Sept. 8, 2024, 4:04 a.m.)
Issued	28 years, 3 months ago (June 1, 1997)
Published	28 years, 3 months ago (June 1, 1997)
Published Print	28 years, 3 months ago (June 1, 1997)

Funders 0

None

BibTeX

@article{Mackay_1997, title={A New Locus for Dominant “Zonular Pulverulent” Cataract, on Chromosome 13}, volume={60}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/515468}, DOI={10.1086/515468}, number={6}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Mackay, Donna and Ionides, Alexander and Berry, Vanita and Moore, Anthony and Bhattacharya, Shomi and Shiels, Alan}, year={1997}, month=jun, pages={1474–1478} }

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