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Items: 1 to 20 of 98

1.

Clinical utility gene card for: Achromatopsia - update 2013.

Kohl S, Hamel C.

Eur J Hum Genet. 2013 Nov;21(11). doi: 10.1038/ejhg.2013.44. Epub 2013 Mar 13. No abstract available.

2.

Clinical utility gene card for: achromatopsia.

Kohl S, Hamel CP.

Eur J Hum Genet. 2011 Jun;19(6). doi: 10.1038/ejhg.2010.231. Epub 2011 Jan 26. No abstract available.

3.

[Achromatopsia].

Poloschek CM, Kohl S.

Ophthalmologe. 2010 Jun;107(6):571-80; quiz 581-2. doi: 10.1007/s00347-010-2178-8. Review. German.

PMID:
20533046
4.

Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.

Yang P, Michaels KV, Courtney RJ, Wen Y, Greninger DA, Reznick L, Karr DJ, Wilson LB, Weleber RG, Pennesi ME.

JAMA Ophthalmol. 2014 Jul;132(7):823-31. doi: 10.1001/jamaophthalmol.2014.685.

PMID:
24676353
5.

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R.

Mol Vis. 2010 Apr 29;16:774-81.

6.

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L.

J Hum Genet. 2011 Jan;56(1):22-8. doi: 10.1038/jhg.2010.128. Epub 2010 Nov 25.

PMID:
21107338
7.

Achromatopsia: a review.

Remmer MH, Rastogi N, Ranka MP, Ceisler EJ.

Curr Opin Ophthalmol. 2015 Jul;26(5):333-40. doi: 10.1097/ICU.0000000000000189. Review.

PMID:
26196097
8.

Restoration of cone vision in a mouse model of achromatopsia.

Alexander JJ, Umino Y, Everhart D, Chang B, Min SH, Li Q, Timmers AM, Hawes NL, Pang JJ, Barlow RB, Hauswirth WW.

Nat Med. 2007 Jun;13(6):685-7. Epub 2007 May 21.

9.

Achromatopsia as a potential candidate for gene therapy.

Pang JJ, Alexander J, Lei B, Deng W, Zhang K, Li Q, Chang B, Hauswirth WW.

Adv Exp Med Biol. 2010;664:639-46. doi: 10.1007/978-1-4419-1399-9_73.

10.

Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia.

Michalakis S, Mühlfriedel R, Tanimoto N, Krishnamoorthy V, Koch S, Fischer MD, Becirovic E, Bai L, Huber G, Beck SC, Fahl E, Büning H, Schmidt J, Zong X, Gollisch T, Biel M, Seeliger MW.

Adv Exp Med Biol. 2012;723:183-9. doi: 10.1007/978-1-4614-0631-0_25. No abstract available.

PMID:
22183332
11.

Achromatopsia: the first case report in Thailand.

Ruangvaravate N, Samsen P, Thuangtong A, Chanvarapha N.

J Med Assoc Thai. 2012 Apr;95 Suppl 4:S147-50.

PMID:
22696868
12.

[A case of rod monochromasia].

Fomina VL, Parameĭ OV, Tumasian AR, Khatsenko IE.

Vestn Oftalmol. 2011 Nov-Dec;127(6):46-7. Russian.

PMID:
22442995
13.

Achromatopsia. Clinical diagnosis and treatment.

O'Connor PS, Tredici TJ, Ivan DJ, Mumma JV, Shacklett DE.

J Clin Neuroophthalmol. 1982 Dec;2(4):219-26.

PMID:
6226703
14.

Clinical utility gene card for: blue cone monochromatism.

Kohl S, Hamel CP.

Eur J Hum Genet. 2011 Jun;19(6). doi: 10.1038/ejhg.2010.232. Epub 2011 Jan 26. No abstract available.

15.

Incomplete achromatopsia: diagnosis in infancy.

Keith CG.

Birth Defects Orig Artic Ser. 1982;18(6):269-80. No abstract available.

PMID:
6983369
16.

[Progress on study of achromatopsia and targeted gene therapy].

Dai XF, Pang JJ.

Zhonghua Yan Ke Za Zhi. 2012 Aug;48(8):755-8. Review. Chinese.

PMID:
23141518
17.

Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications.

McClintock M, Peden MC, Kay CN.

Adv Exp Med Biol. 2014;801:551-7. doi: 10.1007/978-1-4614-3209-8_70.

PMID:
24664743
18.

The usefulness of color vision testing and color fields.

Renaldo JM.

J Am Optom Assoc. 1977 Nov;48(11):1411-2.

PMID:
303650
19.

A case of incomplete achromatopsia of the deutan type.

van Norren D, de Vries-de Mol EC.

Doc Ophthalmol. 1981 Nov;51(4):365-72.

PMID:
6975711
20.

AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia.

Pang JJ, Deng WT, Dai X, Lei B, Everhart D, Umino Y, Li J, Zhang K, Mao S, Boye SL, Liu L, Chiodo VA, Liu X, Shi W, Tao Y, Chang B, Hauswirth WW.

PLoS One. 2012;7(4):e35250. doi: 10.1371/journal.pone.0035250. Epub 2012 Apr 11. Erratum in: PLoS One. 2014;9(1). doi:10.1371/annotation/29fb0ebc-b1c7-4d05-bd70-d29b10299df4.

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