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Items: 1 to 20 of 24

1.

Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB.

BMC Med Genet. 2012 Aug 3;13:67.

2.

Inherited macular dystrophies and differential diagnostics.

Liutkevičienė R, Lesauskaitė V, Ašmonienė V, Gelžinis A, Zaliūnienė D, Jašinskas V.

Medicina (Kaunas). 2012;48(9):485-95. Review.

3.

[Genotype-Phenotype Correlations in Patients with CRB1 Mutations].

Papadopoulou Laiou C, Preising MN, Bolz HJ, Lorenz B.

Klin Monbl Augenheilkd. 2017 Mar;234(3):289-302. doi: 10.1055/s-0043-103961. Epub 2017 Mar 29. Review. German.

PMID:
28355663
4.

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C.

Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653. Epub 2011 Dec 27. Review.

5.

Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.

Iannaccone A.

Doc Ophthalmol. 2001 May;102(3):197-236. Review.

PMID:
11556486
6.

Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.

Gupta S, Chatterjee S, Mukherjee A, Mutsuddi M.

Exp Eye Res. 2017 Nov;164:139-150. doi: 10.1016/j.exer.2017.08.013. Epub 2017 Aug 24. Review.

PMID:
28844620
7.

Molecular genetics of macular degeneration.

Musarella MA.

Doc Ophthalmol. 2001 May;102(3):165-77. Review.

PMID:
11556484
8.

Exome sequencing greatly expedites the progressive research of Mendelian diseases.

Zhang X.

Front Med. 2014 Mar;8(1):42-57. doi: 10.1007/s11684-014-0303-9. Epub 2014 Jan 3. Review.

PMID:
24384736
9.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.

10.

Recent advances in the genetics of macular dystrophies.

Mah DY, Wong PW, Edwards A, MacDonald IM.

Can J Ophthalmol. 1998 Apr;33(3):135-43. Review. No abstract available.

PMID:
9606569
11.

Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4.

Logan S, Anderson RE.

Adv Exp Med Biol. 2014;801:447-53. doi: 10.1007/978-1-4614-3209-8_57. Review.

PMID:
24664730
12.

Biomedical impact of splicing mutations revealed through exome sequencing.

Taneri B, Asilmaz E, Gaasterland T.

Mol Med. 2012 Mar 30;18:314-9. doi: 10.2119/molmed.2011.00126. Review.

13.

Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.

Lee K, Garg S.

Genet Med. 2015 Apr;17(4):245-52. doi: 10.1038/gim.2015.15. Epub 2015 Mar 19. Review.

PMID:
25790163
14.

[Application of whole exome sequencing in the diagnosis of hereditary neurological diseases].

Ilinsky VV, Korneeva VA, Shatalov PA.

Zh Nevrol Psikhiatr Im S S Korsakova. 2015;115(1):45-52. doi: 10.17116/jnevro20151151145-52. Review. Russian.

PMID:
25909789
15.

Exome sequencing: new insights into lipoprotein disorders.

Farhan SM, Hegele RA.

Curr Cardiol Rep. 2014 Jul;16(7):507. doi: 10.1007/s11886-014-0507-2. Review.

PMID:
24893940
16.

Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.

Ratnapriya R, Swaroop A.

Genome Med. 2013 Oct 11;5(10):84. doi: 10.1186/gm488. eCollection 2013. Review.

17.

[Muscular Dystrophies Involving the Retinal Function].

Jägle H.

Klin Monbl Augenheilkd. 2016 Mar;232(3):251-6. doi: 10.1055/s-0042-101555. Epub 2016 Mar 24. Review. German.

PMID:
27011029
18.

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

Siemiatkowska AM, Collin RW, den Hollander AI, Cremers FP.

Cold Spring Harb Perspect Med. 2014 Jun 17;4(8). pii: a017137. doi: 10.1101/cshperspect.a017137. Review.

19.

A Clinician's perspective on clinical exome sequencing.

O'Donnell-Luria AH, Miller DT.

Hum Genet. 2016 Jun;135(6):643-54. doi: 10.1007/s00439-016-1662-x. Epub 2016 Apr 28. Review.

PMID:
27126233
20.

A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data.

Hintzsche JD, Robinson WA, Tan AC.

Int J Genomics. 2016;2016:7983236. doi: 10.1155/2016/7983236. Epub 2016 Dec 14. Review.

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