Uneingeschränkter Zugang

Genetic testing for Bietti crystalline dystrophy

The EuroBiotech Journal's Cover Image
The EuroBiotech Journal
EBTNA Utility Gene Test on Ophthalmology

Zitieren

1. Okialda KA, Stover NB, Weleber RG, Kelly EJ. Bietti Crystalline Dystrophy. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al., editors. GeneReviews(R). Seattle (WA) 1993.Search in Google Scholar

2. Kojima H, Otani A, Ogino K, Nakagawa S, Makiyama Y, Kurimoto M, et al. Outer retinal circular structures in patients with Bietti crystalline retinopathy. Br J Ophthalmol. 2012 Mar; 96(3):390-3. doi: 10.1136/bjo.2010.199356. Epub 2011 Jul 29. PubMed PMID: 21803923.Search in Google Scholar

3. Pennesi ME, Weleber RG. High resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina. 2010 Mar; 30(3):531-2. doi: 10.1097/IAE.0b013e- 3181c96a15. PubMed PMID: 20139800.Search in Google Scholar

4. Padhi TR, Kesarwani S, Jalali S. Bietti crystalline retinal dystrophy with subfoveal neurosensory detachment and congenital tortuosity of retinal vessels: case report. Doc Ophthalmol. 2011 Jun; 122(3):199-206. doi: 10.1007/s10633-011-9274-1. Epub 2011 May 25. PubMed PMID: 21611771Search in Google Scholar

5. Mataftsi A, Zografos L, Millá E, Secrétan M, Munier FL. Bietti’s crystalline corneoretinal dystrophy: a cross-sectional study. Retina. 2004 Jun; 24(3):416-26. PubMed PMID: 15187665.10.1097/00006982-200406000-0001315187665Search in Google Scholar

6. Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, et al. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti’s retinal dystrophy. Mol Genet Genomic Med. 2015 Jan; 3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15. PubMed PMID: 25629076; PubMed Central PMCID: PMC4299712.Search in Google Scholar

7. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep 2009 Jun 12; 58 (RR-6):1-37. PubMed PMID: 19521335.Search in Google Scholar

8. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov; 119(11):2408-10. PubMed PMID: 22944025. Epub 2012/09/01.Search in Google Scholar

eISSN:
2564-615X
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
4 Hefte pro Jahr
Fachgebiete der Zeitschrift:
Biologie, andere, Medizin, Biomedizinische Technik, Physik, Nanotechnologie, Biophysik