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Literature DB >> 23960971

Hereditary pediatric cataract on the Arabian Peninsula.

Abstract

Hereditary pediatric cataract on the Arabian Peninsula does not follow the same epidemiological patterns as described for Western populations. This article describes selected genetic causes for inherited pediatric cataract in the region.

Entities: Disease

Keywords: Arabian Peninsula; Crystallins; Genetics; Pediatric cataract

Year: 2012 PMID： 23960971 PMCID： PMC3729700 DOI： 10.1016/j.sjopt.2011.10.008

Source DB: PubMed Journal: Saudi J Ophthalmol ISSN： 1319-4534

27 in total

Review 1. The multiple functions of collagen XVIII in development and disease.

Authors: Lotta Seppinen; Taina Pihlajaniemi
Journal: Matrix Biol Date: 2010-12-14 Impact factor: 11.583

2. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Authors: Kristien P Hoornaert; Inge Vereecke; Chantal Dewinter; Thomas Rosenberg; Frits A Beemer; Jules G Leroy; Laila Bendix; Erik Björck; Maryse Bonduelle; Odile Boute; Valerie Cormier-Daire; Christine De Die-Smulders; Anne Dieux-Coeslier; Hélène Dollfus; Mariet Elting; Andrew Green; Veronica I Guerci; Raoul C M Hennekam; Yvonne Hilhorts-Hofstee; Muriel Holder; Carel Hoyng; Kristi J Jones; Dragana Josifova; Ilkka Kaitila; Suzanne Kjaergaard; Yolande H Kroes; Kristina Lagerstedt; Melissa Lees; Martine Lemerrer; Cinzia Magnani; Carlo Marcelis; Loreto Martorell; Michèle Mathieu; Meriel McEntagart; Angela Mendicino; Jenny Morton; Gabrielli Orazio; Véronique Paquis; Orit Reish; Kalle O J Simola; Sarah F Smithson; Karen I Temple; Elisabeth Van Aken; Yolande Van Bever; Jenneke van den Ende; Johanna M Van Hagen; Leopoldo Zelante; Riina Zordania; Anne De Paepe; Bart P Leroy; Marc De Buyzere; Paul J Coucke; Geert R Mortier
Journal: Eur J Hum Genet Date: 2010-02-24 Impact factor: 4.246

Review 3. Genetic origins of cataract.

Authors: Alan Shiels; J Fielding Hejtmancik
Journal: Arch Ophthalmol Date: 2007-02

4. Autosomal dominant cataract: intrafamilial phenotypic variability, interocular asymmetry, and variable progression in four Chilean families.

Authors: Suraiya M Shafie; Fernando R Barria von-Bischhoffshausen; J Bronwyn Bateman
Journal: Am J Ophthalmol Date: 2006-04 Impact factor: 5.258

5. Human gamma-crystallin genes. A gene family on its way to extinction.

Authors: R H Brakenhoff; H J Aarts; F H Reek; N H Lubsen; J G Schoenmakers
Journal: J Mol Biol Date: 1990-12-05 Impact factor: 5.469

6. Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group.

Authors: J S Rahi; C Dezateux
Journal: Invest Ophthalmol Vis Sci Date: 2000-07 Impact factor: 4.799

Review 7. Clinical and experimental advances in congenital and paediatric cataracts.

Authors: Amanda Churchill; Jochen Graw
Journal: Philos Trans R Soc Lond B Biol Sci Date: 2011-04-27 Impact factor: 6.237

8. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.

Authors: T Glaser; L Jepeal; J G Edwards; S R Young; J Favor; R L Maas
Journal: Nat Genet Date: 1994-08 Impact factor: 38.330

Review 9. Genetics of crystallins: cataract and beyond.

Authors: Jochen Graw
Journal: Exp Eye Res Date: 2008-11-01 Impact factor: 3.467

Review 10. PAX6 mutations reviewed.

Authors: J Prosser; V van Heyningen
Journal: Hum Mutat Date: 1998 Impact factor: 4.878

4 in total

1. Consanguinity and its association with visual impairment in southern India: the Pavagada Pediatric Eye Disease Study 2.

Authors: Vasudha Kemmanu; Subramanya K Giliyar; Harsha L Rao; Bhujanga K Shetty; Govindasamy Kumaramanickavel; Catherine A McCarty
Journal: J Community Genet Date: 2018-12-01

2. Cataract update.

Authors: Ali A Al-Rajhi
Journal: Saudi J Ophthalmol Date: 2012-01

3. Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Authors: Nisha Patel; Deepti Anand; Dorota Monies; Sateesh Maddirevula; Arif O Khan; Talal Algoufi; Mohammed Alowain; Eissa Faqeih; Muneera Alshammari; Ahmed Qudair; Hadeel Alsharif; Fatimah Aljubran; Hessa S Alsaif; Niema Ibrahim; Firdous M Abdulwahab; Mais Hashem; Haifa Alsedairy; Mohammed A Aldahmesh; Salil A Lachke; Fowzan S Alkuraya
Journal: Hum Genet Date: 2016-11-22 Impact factor: 4.132

4. Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).

Authors: Arif O Khan; Mohammed A Aldahmesh; Fowzan S Alkuraya
Journal: Trans Am Ophthalmol Soc Date: 2015

4 in total