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Literature DB >> 9718335

Gene localization for aculeiform cataract, on chromosome 2q33-35.

E Héon, S Liu, G Billingsley, O Bernasconi, C Tsilfidis, D F Schorderet, F L Munier, C Tsifildis.

Abstract

Entities: Disease

Mesh：

Substances：
Genetic Markers

Year: 1998 PMID： 9718335 PMCID： PMC1377393 DOI： 10.1086/302005

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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Cited

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9 in total

1. A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.

Authors: Vanita Vanita; Daljit Singh
Journal: Mol Cell Biochem Date: 2012-06-06 Impact factor: 3.396

2. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.

Authors: E Nandrot; C Slingsby; A Basak; M Cherif-Chefchaouni; B Benazzouz; Y Hajaji; S Boutayeb; O Gribouval; L Arbogast; A Berraho; M Abitbol; L Hilal
Journal: J Med Genet Date: 2003-04 Impact factor: 6.318

3. Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Authors: Maurizia Colangelo; Melissa Alfonsi; Chiara Palka; Eleonora Zio Zio; Silvana Di Renzo; Paolo Guanciali-Franchi; Giandomenico Palka
Journal: J Genet Date: 2018-03 Impact factor: 1.166

4. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.

Authors: V Berry; P Francis; M A Reddy; D Collyer; E Vithana; I MacKay; G Dawson; A H Carey; A Moore; S S Bhattacharya; R A Quinlan
Journal: Am J Hum Genet Date: 2001-09-27 Impact factor: 11.025

5. Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness.

Authors: S N Martin; J Sutherland; A V Levin; R Klose; M Priston; E Héon
Journal: J Med Genet Date: 2000-06 Impact factor: 6.318

Gene localization for aculeiform cataract, on chromosome 2q33-35.

1. A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.

2. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.

3. Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

4. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.

5. Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness.

6. The gamma-crystallins and human cataracts: a puzzle made clearer.

7. iSyTE: integrated Systems Tool for Eye gene discovery.

Review 8. Congenital cataracts and their molecular genetics.

9. Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD).