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Select item 4476121.

A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family

Eran Pras, Etgar Levy-Nissenbaum, Tangiz Bakhan, Hadas Lahat, Ehud Assia, Noa Geffen-Carmi, Moshe Frydman, Boleslaw Goldman, Elon Pras

Am J Hum Genet. 2002 May; 70(5): 1363–1367. Published online 2002 Mar 26. doi: 10.1086/340318

PMCID:: PMC447612

Abstract Article PDF–337K

Select item 87273462.

Structural Characteristics of the Lens in Presenile Cataract

Sofija Andjelic, Kazimir Drašlar, Anastazija Hvala, Marko Hawlina

Front Med (Lausanne) 2021; 8: 802275. Published online 2021 Dec 22. doi: 10.3389/fmed.2021.802275

PMCID:: PMC8727346

Abstract Article PDF–15M

Select item 80165603.

Clinical Characteristics of Presenile Cataract: Change over 10 Years in Southern Taiwan

Hun-Ju Yu, Ming-Tse Kuo, Pei-Chang Wu

Biomed Res Int. 2021; 2021: 9385293. Published online 2021 Mar 20. doi: 10.1155/2021/9385293

PMCID:: PMC8016560

Abstract Article PDF–422K

Select item 10416424.

Idiopathic presenile cataract formation and galactosaemia.

R E Stevens, M B Datiles, S K Srivastava, N H Ansari, A E Maumenee, W J Stark

Br J Ophthalmol. 1989 Jan; 73(1): 48–51. doi: 10.1136/bjo.73.1.48

PMCID:: PMC1041642

Summary Page Browse PDF–606K

Select item 39252855.

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

Shery Thomas, Mervyn G Thomas, Caroline Andrews, Wai-Man Chan, Frank A Proudlock, Rebecca J McLean, Archana Pradeep, Elizabeth C Engle, Irene Gottlob

Eur J Hum Genet. 2014 Mar; 22(3): 344–349. Published online 2013 Aug 14. doi: 10.1038/ejhg.2013.162

PMCID:: PMC3925285

Abstract Article PDF–1.0M

Select item 66181746.

Presenile cataract and its risk factors: A case control study

Gopal K. Das, Krutika Boriwal, Pragti Chhabra, Pramod K. Sahu, Sabitabh Kumar, Nitish Kumar

J Family Med Prim Care. 2019 Jun; 8(6): 2120–2123. doi: 10.4103/jfmpc.jfmpc_267_19

PMCID:: PMC6618174

Abstract Article PDF–505K

Select item 504477.

Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.

R T Lee, C L Peterson, A F Calman, I Herskowitz, J J O'Donnell

Proc Natl Acad Sci U S A. 1992 Nov 15; 89(22): 10887–10891. doi: 10.1073/pnas.89.22.10887

PMCID:: PMC50447

Summary Page Browse PDF–1.6M

Select item 33384768.

Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome

Alessandro Pecci, Ginevra Biino, Tiziana Fierro, Valeria Bozzi, Annamaria Mezzasoma, Patrizia Noris, Ugo Ramenghi, Giuseppe Loffredo, Fabrizio Fabris, Stefania Momi, Umberto Magrini, Mario Pirastu, Anna Savoia, Carlo Balduini, Paolo Gresele, for the Italian Registry for MYH9-releated diseases

PLoS One. 2012; 7(4): e35986. Published online 2012 Apr 25. doi: 10.1371/journal.pone.0035986

PMCID:: PMC3338476

Abstract Article PDF–317K

Select item 35461649.

Daniela De Rocco, Barbara Zieger, Helen Platokouki, Paula G. Heller, Annalisa Pastore, Roberta Bottega, Patrizia Noris, Serena Barozzi, Ana C. Glembotsky, Helen Pergantou, Carlo L. Balduini, Anna Savoia, Alessandro Pecci

Eur J Med Genet. 2013 Jan; 56(1): 7–12. doi: 10.1016/j.ejmg.2012.10.009

PMCID:: PMC3546164

Abstract Article

Select item 400707010.

A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities

Jianfu Zhuang, Xiaole Chen, Zhihua Tan, Yihua Zhu, Kanxing Zhao, Juhua Yang

Sci Rep. 2014; 4: 4836. Published online 2014 May 2. doi: 10.1038/srep04836

PMCID:: PMC4007070

Abstract Article PDF–3.3M

Select item 327667711.

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

Tom R. Webb, Mar Matarin, Jessica C. Gardner, Dan Kelberman, Hala Hassan, Wei Ang, Michel Michaelides, Jonathan B. Ruddle, Craig E. Pennell, Seyhan Yazar, Chiea C. Khor, Tin Aung, Mahinda Yogarajah, Anthony G. Robson, Graham E. Holder, Michael E. Cheetham, Elias I. Traboulsi, Anthony T. Moore, Jane C. Sowden, Sanjay M. Sisodiya, David A. Mackey, Stephen J. Tuft, Alison J. Hardcastle

Am J Hum Genet. 2012 Feb 10; 90(2): 247–259. doi: 10.1016/j.ajhg.2011.12.019

PMCID:: PMC3276677

Abstract Article PDF–1.2M

Select item 128828212.

A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)

Luba Kalaydjieva, Anna Perez-Lezaun, Dora Angelicheva, Suna Onengut, Danielle Dye, Nils U. Bosshard, Albena Jordanova, Alexei Savov, Peter Yanakiev, Ivo Kremensky, Brigitta Radeva, Joachim Hallmayer, Arseni Markov, Vanya Nedkova, Ivailo Tournev, Lidia Aneva, Richard Gitzelmann

Am J Hum Genet. 1999 Nov; 65(5): 1299–1307. Published online 1999 Oct 11. doi: 10.1086/302611