123 related articles for article (PubMed ID: 28586144)
21. Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.
Herijgers D; Denayer E; Balikova I; Witters P; Jacob J; Casteels I
Ophthalmic Genet; 2021 Aug; 42(4):480-485. PubMed ID: 33955814
[TBL] [Abstract][Full Text] [Related]
22. Intra-familial phenotype variability in patients with Jalili syndrome.
Gerth-Kahlert C; Seebauer B; Dold S; Hanson JV; Wildberger H; Spörri A; van Waes H; Berger W
Eye (Lond); 2015 May; 29(5):712-6. PubMed ID: 25613845
[No Abstract] [Full Text] [Related]
23. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
Ksantini M; Lafont E; Bocquet B; Meunier I; Hamel CP
Eur J Ophthalmol; 2012; 22(4):647-53. PubMed ID: 22180149
[TBL] [Abstract][Full Text] [Related]
24. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
Méjécase C; Laurent-Coriat C; Mayer C; Poch O; Mohand-Saïd S; Prévot C; Antonio A; Boyard F; Condroyer C; Michiels C; Blanchard S; Letexier M; Saraiva JP; Sahel JA; Audo I; Zeitz C
PLoS One; 2016; 11(12):e0168271. PubMed ID: 27977773
[TBL] [Abstract][Full Text] [Related]
25. 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. PubMed ID: 26854980
[TBL] [Abstract][Full Text] [Related]
26. MFSD8 gene mutations; evidence for phenotypic heterogeneity.
Zare-Abdollahi D; Bushehri A; Alavi A; Dehghani A; Mousavi-Mirkala M; Effati J; Miratashi SAM; Dehani M; Jamali P; Khorram Khorshid HR
Ophthalmic Genet; 2019 Apr; 40(2):141-145. PubMed ID: 31006324
[TBL] [Abstract][Full Text] [Related]
27. 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; 57(10):4255-63. PubMed ID: 27548899
[TBL] [Abstract][Full Text] [Related]
28. Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent.
Purwar P; Sareen S; Bhartiya K; Sayed Inayatullah SR; Bansal M; Chahal V; Gupta SK; Dixit J; Sheel V; Rai P
Oral Surg Oral Med Oral Pathol Oral Radiol; 2015 Nov; 120(5):e210-8. PubMed ID: 26117809
[TBL] [Abstract][Full Text] [Related]
29. The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report.
Lee JH; Park SH; Yim JS; Kim MS; Kim SY
Korean J Ophthalmol; 2023 Apr; 37(2):195-197. PubMed ID: 36950920
[No Abstract] [Full Text] [Related]
30. Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.
Volodarsky M; Zilberman U; Birk OS
Arch Oral Biol; 2015 Jun; 60(6):919-22. PubMed ID: 25827751
[TBL] [Abstract][Full Text] [Related]
31. Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.
Ratbi I; Jaouad IC; Elorch H; Al-Sheqaih N; Elalloussi M; Lyahyai J; Berraho A; Newman WG; Sefiani A
Eur J Med Genet; 2016 Oct; 59(10):507-11. PubMed ID: 27633571
[TBL] [Abstract][Full Text] [Related]
32. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
Cho SH; Seymen F; Lee KE; Lee SK; Kweon YS; Kim KJ; Jung SE; Song SJ; Yildirim M; Bayram M; Tuna EB; Gencay K; Kim JW
Hum Mutat; 2012 Jan; 33(1):91-4. PubMed ID: 21990045
[TBL] [Abstract][Full Text] [Related]
33. CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.
Feldhaus B; Weisschuh N; Nasser F; den Hollander AI; Cremers FPM; Zrenner E; Kohl S; Zobor D
Am J Ophthalmol; 2020 Mar; 211():142-150. PubMed ID: 31734136
[TBL] [Abstract][Full Text] [Related]
34. Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.
Nitayavardhana I; Theerapanon T; Srichomthong C; Piwluang S; Wichadakul D; Porntaveetus T; Shotelersuk V
Mol Genet Genomics; 2020 Jul; 295(4):923-931. PubMed ID: 32246227
[TBL] [Abstract][Full Text] [Related]
35. An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
Eidinger O; Leibu R; Newman H; Rizel L; Perlman I; Ben-Yosef T
Mol Vis; 2015; 21():1295-306. PubMed ID: 26702251
[TBL] [Abstract][Full Text] [Related]
36. 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; 38(2):178-182. PubMed ID: 27176872
[TBL] [Abstract][Full Text] [Related]
37. New missense variants in RELT causing hypomineralised amelogenesis imperfecta.
Nikolopoulos G; Smith CEL; Brookes SJ; El-Asrag ME; Brown CJ; Patel A; Murillo G; O'Connell MJ; Inglehearn CF; Mighell AJ
Clin Genet; 2020 May; 97(5):688-695. PubMed ID: 32052416
[TBL] [Abstract][Full Text] [Related]
38. Dentofacial manifestations in a child with Jalili syndrome.
Ravi M; Karthikeyan PD; Tewari N; Morankar R; Gupta AK; Nehta H; Raghuthaman S
Spec Care Dentist; 2023 Dec; ():. PubMed ID: 38151709
[TBL] [Abstract][Full Text] [Related]
39. Cone dystrophy or macular dystrophy associated with novel autosomal dominant
Manes G; Mamouni S; Hérald E; Richard AC; Sénéchal A; Aouad K; Bocquet B; Meunier I; Hamel CP
Mol Vis; 2017; 23():198-209. PubMed ID: 28442884
[TBL] [Abstract][Full Text] [Related]
40. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
Davidson AE; Sergouniotis PI; Mackay DS; Wright GA; Waseem NH; Michaelides M; Holder GE; Robson AG; Moore AT; Plagnol V; Webster AR
Hum Mutat; 2013 Mar; 34(3):506-14. PubMed ID: 23281133
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]