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Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
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Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

BURDON, Kathryn P ; MACGREGOR, Stuart ; LANDERS, John ; HENDERS, Anjali K ; WOOD, John ; SOUZEAU, Emmanuelle ; CRAWFORD, April ; LEO, Paul ; JIE JIN WANG ; ROCHTCHINA, Elena ; NYHOLT, Dale R ; MARTIN, Nicholas G ; HEWITT, Alex W ; MONTGOMERY, Grant W ; MITCHELL, Paul ; BROWN, Matthew A ; MACKEY, David A ; CRAIG, Jamie E ; SHARMA, Shiwani ; CHIDLOW, Glyn ; MILLS, Richard A ; DANOY, Patrick ; CASSON, Robert ; VISWANATHAN, Ananth C ; LIU, Jimmy Z

Nature genetics, 2011-06, Vol.43 (6), p.574-578 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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2
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25
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A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

Hammond, Christopher J ; Hysi, Pirro G ; Young, Terri L ; Mackey, David A ; Andrew, Toby ; Fernández-Medarde, Alberto ; Solouki, Abbas M ; Hewitt, Alex W ; Macgregor, Stuart ; Vingerling, Johannes R ; Li, Yi-Ju ; Ikram, M Kamran ; Fai, Lee Yiu ; Sham, Pak C ; Manyes, Lara ; Porteros, Angel ; Lopes, Margarida C ; Carbonaro, Francis ; Fahy, Samantha J ; Martin, Nicholas G ; van Duijn, Cornelia M ; Spector, Timothy D ; Rahi, Jugnoo S ; Santos, Eugenio ; Klaver, Caroline C W

Nature genetics, 2010-10, Vol.42 (10), p.902-905 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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3
The Heritability of Ocular Traits
The Heritability of Ocular Traits
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The Heritability of Ocular Traits

Sanfilippo, Paul G., BAppSc (Optom) ; Hewitt, Alex W., PhD ; Hammond, Chris J., MD ; Mackey, David A., MD

Survey of ophthalmology, 2010-11, Vol.55 (6), p.561-583 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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4
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

Thorleifsson, Gudmar ; Stefansson, Kari ; Walters, G Bragi ; Hewitt, Alex W ; Masson, Gisli ; Helgason, Agnar ; DeWan, Andrew ; Sigurdsson, Asgeir ; Jonasdottir, Adalbjorg ; Gudjonsson, Sigurjon A ; Magnusson, Kristinn P ; Stefansson, Hreinn ; Lam, Dennis S C ; Tam, Pancy O S ; Gudmundsdottir, Gudrun J ; Southgate, Laura ; Burdon, Kathryn P ; Gottfredsdottir, Maria Soffia ; Aldred, Micheala A ; Mitchell, Paul ; St Clair, David ; Collier, David A ; Tang, Nelson ; Sveinsson, Orn ; Macgregor, Stuart ; Martin, Nicholas G ; Cree, Angela J ; Gibson, Jane ; MacLeod, Alex ; Jacob, Aby ; Ennis, Sarah ; Young, Terri L ; Chan, Juliana C N ; Karwatowski, Wojciech S S ; Hammond, Christopher J ; Thordarson, Kristjan ; Zhang, Mingzhi ; Wadelius, Claes ; Lotery, Andrew J ; Trembath, Richard C ; Pang, Chi Pui ; Hoh, Josephine ; Craig, Jamie E ; Kong, Augustine ; Mackey, David A ; Jonasson, Fridbert ; Thorsteinsdottir, Unnur

Nature genetics, 2010-10, Vol.42 (10), p.906-909 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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5
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Vandenburgh, Kimberlie ; Mackey, David A ; Stone, Edwin M ; Héon, Elise ; Piguet, Bertrand ; Silvestri, Giuliana ; Bird, Alan C ; Lotery, Andrew J ; Guymer, Robyn H ; Nishimura, Darryl ; Schorderet, Daniel F ; Munier, Francis L ; Hageman, Gregory S ; Sheffield, Val C ; Cousin, Pascal ; Swiderski, Ruth E

Nature genetics, 1999-06, Vol.22 (2), p.199-202 [Periódico revisado por pares]

London: Nature Publishing Group

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6
Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells
Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells
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Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells

Krafchak, Charles M. ; Pawar, Hemant ; Moroi, Sayoko E. ; Sugar, Alan ; Lichter, Paul R. ; Mackey, David A. ; Mian, Shahzad ; Nairus, Theresa ; Elner, Victor ; Schteingart, Miriam T. ; Downs, Catherine A. ; Kijek, Theresa Guckian ; Johnson, Jenae M. ; Trager, Edward H. ; Rozsa, Frank W. ; Ali Mandal, Md Nawajes ; Epstein, Michael P. ; Vollrath, Douglas ; Ayyagari, Radha ; Boehnke, Michael ; Richards, Julia E.

American journal of human genetics, 2005-11, Vol.77 (5), p.694-708 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Aetiology of congenital and paediatric cataract in an Australian population
Aetiology of congenital and paediatric cataract in an Australian population
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Aetiology of congenital and paediatric cataract in an Australian population

Wirth, M G ; Russell-Eggitt, I M ; Craig, J E ; Elder, J E ; Mackey, D A

British journal of ophthalmology, 2002-07, Vol.86 (7), p.782-786 [Periódico revisado por pares]

BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd

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8
Inhaled corticosteroids, family history, and risk of glaucoma
Inhaled corticosteroids, family history, and risk of glaucoma
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Inhaled corticosteroids, family history, and risk of glaucoma

Mitchell, Paul ; Cumming, Robert G ; Mackey, David A

Ophthalmology (Rochester, Minn.), 1999-12, Vol.106 (12), p.2301-2306 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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9
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family
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A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family

Ng, WY ; Pasutto, F ; Bardakjian, TM ; Wilson, MJ ; Watson, G ; Schneider, A ; Mackey, DA ; Grigg, JR ; Zenker, M ; Jamieson, RV

Clinical genetics, 2013-02, Vol.83 (2), p.162-168 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation
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Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Burdon, Kathryn P. ; McKay, James D. ; Sale, Michèle M. ; Russell-Eggitt, Isabelle M. ; Mackey, David A. ; Wirth, M. Gabriela ; Elder, James E. ; Nicoll, Alan ; Clarke, Michael P. ; FitzGerald, Liesel M. ; Stankovich, James M. ; Shaw, Marie A. ; Sharma, Shiwani ; Gajovic, Srecko ; Gruss, Peter ; Ross, Shelley ; Thomas, Paul ; Voss, Anne K. ; Thomas, Tim ; Gécz, Jozef ; Craig, Jamie E.

American journal of human genetics, 2003-11, Vol.73 (5), p.1120-1130 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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