1. bookVolume 1 (2017): Edizione s1 (October 2017)
    EBTNA Utility Gene Test on Ophthalmology
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2564-615X
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30 Jan 2017
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4 volte all'anno
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Accesso libero

Genetic testing for cone rod dystrophies

Pubblicato online: 27 Oct 2017
Volume & Edizione: Volume 1 (2017) - Edizione s1 (October 2017) - EBTNA Utility Gene Test on Ophthalmology
Pagine: 35 - 37
Dettagli della rivista
License
Formato
Rivista
eISSN
2564-615X
Prima pubblicazione
30 Jan 2017
Frequenza di pubblicazione
4 volte all'anno
Lingue
Inglese

1. Hamel CP. Cone rod dystrophies. Orphanet J Rare Dis. 2007 Feb 1; 2:7. PubMed PMID: 17270046; PubMed Central PMCID: PMC1808442.10.1186/1750-1172-2-7180844217270046Search in Google Scholar

2. Hamel CP, Griffoin JM, Bazalgette C, Lasquellec L, Duval PA, Bareil C, Beaufrère L, et al. Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes. J Fr Ophtalmol. 2000 Dec; 23(10):985-95. PubMed PMID: 11139690.Search in Google Scholar

3. Bax NM, Sangermano R, Roosing S, Thiadens AA, Hoefsloot LH, van den Born LI, Phan M, et al. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. Hum Mutat. 2015 Jan; 36(1):43-7. PubMed PMID: 25363634.10.1002/humu.2271725363634Search in Google Scholar

4. Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, AA Bergen et al. The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet. 1999 Apr;64(4):1024-35. PubMed PMID: 10090887; PubMed Central PMCID: PMC1377826.10.1086/302323137782610090887Search in Google Scholar

5. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat. 2003 Jun; 21(6):636-44. PubMed PMID: 12754711.10.1002/humu.1021912754711Search in Google Scholar

6. Manitto MP, Roosing S, Boon CJ, Souied EH, Bandello F, Querques G. Clinical Utility Gene Card for: autosomal recessive conerod dystrophy. Eur J Hum Genet. 2015 Dec; 23(12). PubMed PMID: 25873014; PubMed Central PMCID: PMC4795210. Epub 2015/04/15.10.1038/ejhg.2015.67479521025873014Search 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, Weleber RG. 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

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