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Items: 1 to 20 of 39

1.

Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.

Nasser F, Mulahasanovic L, Alkhateeb M, Biskup S, Stingl K, Zrenner E.

Doc Ophthalmol. 2019 Apr;138(2):153-160. doi: 10.1007/s10633-019-09675-w. Epub 2019 Feb 1.

PMID:
30710256
2.

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.

Marino V, Dal Cortivo G, Oppici E, Maltese PE, D'Esposito F, Manara E, Ziccardi L, Falsini B, Magli A, Bertelli M, Dell'Orco D.

Hum Mol Genet. 2018 Dec 15;27(24):4204-4217. doi: 10.1093/hmg/ddy311.

PMID:
30184081
3.

A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report.

Wang L, Qi A, Pan H, Liu B, Feng J, Chen W, Wang B.

Medicine (Baltimore). 2018 Aug;97(32):e11499. doi: 10.1097/MD.0000000000011499.

4.

Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.

D'Esposito F, Cennamo G, de Crecchio G, Maltese PE, Cecchin S, Bertelli M, Ziccardi L, Esposito Veneruso P, Magli A, Cennamo G, Cordeiro MF.

Ophthalmic Res. 2018;60(3):169-175. doi: 10.1159/000489460. Epub 2018 Aug 3.

PMID:
30078014
5.

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR.

Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018.

6.

CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.

Kubota D, Gocho K, Kikuchi S, Akeo K, Miura M, Yamaki K, Takahashi H, Kameya S.

Ophthalmic Genet. 2018 Aug;39(4):500-507. doi: 10.1080/13816810.2018.1466338. Epub 2018 May 2.

PMID:
29718797
7.

Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients.

Lima LH, Zett C, Kniggendorf V, Marianelli B, de Carvalho RAP, Farah ME, Sallum JMF.

Ophthalmic Genet. 2018 Aug;39(4):492-499. doi: 10.1080/13816810.2018.1461911. Epub 2018 Apr 19.

PMID:
29671671
8.

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.

Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M.

Am J Ophthalmol. 2018 Apr;188:123-130. doi: 10.1016/j.ajo.2018.01.029. Epub 2018 Feb 5.

9.

Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.

Nasser F, Weisschuh N, Maffei P, Milan G, Heller C, Zrenner E, Kohl S, Kuehlewein L.

Acta Ophthalmol. 2018 Jun;96(4):e445-e454. doi: 10.1111/aos.13612. Epub 2017 Nov 30.

PMID:
29193673
10.

NMNAT1 variants cause cone and cone-rod dystrophy.

Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV.

Eur J Hum Genet. 2018 Mar;26(3):428-433. doi: 10.1038/s41431-017-0029-7. Epub 2017 Nov 28.

11.

Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.

Song H, Rossi EA, Stone E, Latchney L, Williams D, Dubra A, Chung M.

Br J Ophthalmol. 2018 Jan;102(1):136-141. doi: 10.1136/bjophthalmol-2017-310498. Epub 2017 Oct 26.

12.

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR.

Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16.

13.

A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.

Lee GI, Lee C, Subramanian S, Kim NKD, Ki CS, Park WY, Kim BJ, Kim SJ.

Ophthalmic Genet. 2017 Dec;38(6):587-589. doi: 10.1080/13816810.2017.1301965. Epub 2017 Apr 7. No abstract available.

PMID:
28388261
14.

Mizuo-Nakamura phenomenon in cone-rod dystrophy.

Kumar V, Goel N, Bhaskaran UK, Garg I.

Clin Exp Optom. 2017 Jul;100(4):388-391. doi: 10.1111/cxo.12491. Epub 2016 Nov 3. No abstract available.

PMID:
27813202
15.

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C.

Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009.

16.

Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.

Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T.

Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4255-63. doi: 10.1167/iovs.16-19450.

PMID:
27548899
17.

Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.

Warwick AN, Shawkat F, Lotery AJ.

Ophthalmic Genet. 2017 Mar-Apr;38(2):178-182. doi: 10.1080/13816810.2016.1183215. Epub 2016 May 13.

PMID:
27176872
18.

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

Huang L, Xiao X, Li S, Jia X, Wang P, Sun W, Xu Y, Xin W, Guo X, Zhang Q.

Exp Eye Res. 2016 May;146:252-8. doi: 10.1016/j.exer.2016.03.015. Epub 2016 Mar 16.

PMID:
26992781
19.

A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.

Rahner N, Nuernberg G, Finis D, Nuernberg P, Royer-Pokora B.

Ophthalmic Genet. 2016 Sep;37(3):294-300. doi: 10.3109/13816810.2015.1071408. Epub 2016 Feb 11.

PMID:
26865426
20.

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.

Matsui R, McGuigan Iii DB, Gruzensky ML, Aleman TS, Schwartz SB, Sumaroka A, Koenekoop RK, Cideciyan AV, Jacobson SG.

Ophthalmic Genet. 2016 Sep;37(3):333-8. doi: 10.3109/13816810.2015.1130154. Epub 2016 Feb 8.

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