127 related articles for article (PubMed ID: 38488462)
1. Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in
Zhang Y; Li Z; Lin B; Liu X; Sun Z
Eur J Ophthalmol; 2024 Mar; ():11206721241240511. PubMed ID: 38488462
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ; Hu FY; Xu P; Qi YH; Li JK; Zhang YJ; Chen F; Chang Q; Song F; Shen SM; Xu GZ; Wu JH
Orphanet J Rare Dis; 2019 Dec; 14(1):290. PubMed ID: 31831025
[TBL] [Abstract][Full Text] [Related]
4. Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With
Miranda V; Cortez L; Rosmaninho-Salgado J; Ramos F; Paiva C
J Pediatr Ophthalmol Strabismus; 2024; 61(1):59-66. PubMed ID: 37092661
[TBL] [Abstract][Full Text] [Related]
5. Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.
Mechaussier S; Marlin S; Kaplan J; Rozet JM; Perrault I
Adv Exp Med Biol; 2019; 1185():233-238. PubMed ID: 31884617
[TBL] [Abstract][Full Text] [Related]
6. Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in
Barillari MR; Karali M; Di Iorio V; Contaldo M; Piccolo V; Esposito M; Costa G; Argenziano G; Serpico R; Carotenuto M; Cappuccio G; Banfi S; Melillo P; Simonelli F
Mol Genet Metab Rep; 2020 Sep; 24():100615. PubMed ID: 32596134
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
Wangtiraumnuay N; Alnabi WA; Tsukikawa M; Thau A; Capasso J; Sharony R; Inglehearn CF; Levin AV
Ophthalmic Genet; 2018 Jun; 39(3):384-390. PubMed ID: 29676688
[TBL] [Abstract][Full Text] [Related]
9. A novel compound heterozygous PEX1 variant in Heimler syndrome.
Yu M; Zhang M; Chen Q; Huang T; Gan R; Yan X
Exp Eye Res; 2023 Dec; 237():109688. PubMed ID: 37871882
[TBL] [Abstract][Full Text] [Related]
10. Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith CE; Poulter JA; Levin AV; Capasso JE; Price S; Ben-Yosef T; Sharony R; Newman WG; Shore RC; Brookes SJ; Mighell AJ; Inglehearn CF
Eur J Hum Genet; 2016 Nov; 24(11):1565-1571. PubMed ID: 27302843
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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. PubMed ID: 29718797
[TBL] [Abstract][Full Text] [Related]
13. Alström syndrome: Two clinical cases with two novel pathogenic variants.
Herranz-Heras JC; Barceló A; Quesada-Espinosa JF; Dorado-Lopez-Rosado AM; Tejada-Palacios P; Muñoz-Gallego A
Eur J Ophthalmol; 2023 Jul; 33(4):NP27-NP31. PubMed ID: 36112829
[TBL] [Abstract][Full Text] [Related]
14. Management of oral manifestations of a child with Heimler Syndrome-2.
Yap LC; Williams L; Stinton N; Malik G
BMJ Case Rep; 2024 Apr; 17(4):. PubMed ID: 38663901
[TBL] [Abstract][Full Text] [Related]
15. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
Bouzidi A; Charif M; Bouzidi A; Amalou G; Kandil M; Barakat A; Lenaers G
Mol Vis; 2021; 27():17-25. PubMed ID: 33633436
[TBL] [Abstract][Full Text] [Related]
16. Macular dystrophy in Heimler syndrome.
Lima LH; Barbazetto IA; Chen R; Yannuzzi LA; Tsang SH; Spaide RF
Ophthalmic Genet; 2011 Jun; 32(2):97-100. PubMed ID: 21366429
[TBL] [Abstract][Full Text] [Related]
17. A rare case of type 3 usher syndrome with bilateral cystoid macular edema treated with topical dorzolamide.
Puthalath A; Samanta R; Saraswat N; Agrawal A; Singh A; Jamil M
Taiwan J Ophthalmol; 2021; 11(2):183-186. PubMed ID: 34295626
[TBL] [Abstract][Full Text] [Related]
18. New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome.
Cheng WY; Ma MJ; Yuan SQ; Qi XL; Rong WN; Sheng XL
BMC Ophthalmol; 2022 Sep; 22(1):386. PubMed ID: 36162988
[TBL] [Abstract][Full Text] [Related]
19. Retinal dystrophies: A look beyond the eyes.
Tang VD; Egense A; Yiu G; Meyers E; Moshiri A; Shankar SP
Am J Ophthalmol Case Rep; 2022 Sep; 27():101613. PubMed ID: 35756836
[TBL] [Abstract][Full Text] [Related]
20. The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Daich Varela M; Jani P; Zein WM; D'Souza P; Wolfe L; Chisholm J; Zalewski C; Adams D; Warner BM; Huryn LA; Hufnagel RB
Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):618-630. PubMed ID: 32866347
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
