Literature DB >> 14998691

Ocular genetics: current understanding.

Ian M MacDonald1, Mai Tran, Maria A Musarella.   

Abstract

Over the past decade, there has been an exponential increase in our knowledge of heritable eye conditions. Coincidentally, our ability to provide accurate genetic diagnoses has allowed appropriate counseling to patients and families. A summary of our current understanding of ocular genetics will prove useful to clinicians, researchers, and students as an introduction to the subject.

Entities:  

Mesh:

Year:  2004        PMID: 14998691     DOI: 10.1016/j.survophthal.2003.12.003

Source DB:  PubMed          Journal:  Surv Ophthalmol        ISSN: 0039-6257            Impact factor:   6.048


  9 in total

Review 1.  The role of inflammation in the pathogenesis of age-related macular degeneration.

Authors:  Larry A Donoso; David Kim; Arcilee Frost; Alston Callahan; Gregory Hageman
Journal:  Surv Ophthalmol       Date:  2006 Mar-Apr       Impact factor: 6.048

2.  [Mutations of the frizzled-4 gene. Their impact on medical care of patients with autosomal dominant exudative vitreoretinopathy].

Authors:  M Müller; C Kusserow; U Orth; U Klär-Dissars; H Laqua; A Gal
Journal:  Ophthalmologe       Date:  2008-03       Impact factor: 1.059

Review 3.  Neural crest derivatives in ocular development: discerning the eye of the storm.

Authors:  Antionette L Williams; Brenda L Bohnsack
Journal:  Birth Defects Res C Embryo Today       Date:  2015-06-04

4.  Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.

Authors:  Maria Pia Manitto; Susanne Roosing; Camiel J F Boon; Eric H Souied; Francesco Bandello; Giuseppe Querques
Journal:  Eur J Hum Genet       Date:  2015-04-15       Impact factor: 4.246

5.  High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

Authors:  Jin Song; Nizar Smaoui; Radha Ayyagari; David Stiles; Sonia Benhamed; Ian M MacDonald; Stephen P Daiger; Santa J Tumminia; Fielding Hejtmancik; Xinjing Wang
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-11-25       Impact factor: 4.799

6.  Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins.

Authors:  David A Mackey; Jane R Mackinnon; Shayne A Brown; Lisa S Kearns; Jonathan B Ruddle; Paul G Sanfilippo; Cong Sun; Christopher J Hammond; Terri L Young; Nicholas G Martin; Alex W Hewitt
Journal:  Twin Res Hum Genet       Date:  2009-10       Impact factor: 1.587

7.  Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Authors:  Xinjing Wang; Wadih M Zein; Leera D'Souza; Chimere Roberson; Keith Wetherby; Hong He; Angela Villarta; Amy Turriff; Kory R Johnson; Yang C Fann
Journal:  BMC Ophthalmol       Date:  2017-08-24       Impact factor: 2.209

8.  Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up.

Authors:  Rita Serra; Matteo Floris; Antonio Pinna; Francesco Boscia; Francesco Cucca; Andrea Angius
Journal:  Mol Vis       Date:  2019-12-02       Impact factor: 2.367

9.  Polygenetic-Risk Scores Related to Crystallin Metabolism Are Associated with Age-Related Cataract Formation and Interact with Hyperglycemia, Hypertension, Western-Style Diet, and Na Intake.

Authors:  Donghyun Jee; Suna Kang; ShaoKai Huang; Sunmin Park
Journal:  Nutrients       Date:  2020-11-17       Impact factor: 5.717

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.