312 related articles for article (PubMed ID: 26387595)
1. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi I; Falkenberg KD; Sommen M; Al-Sheqaih N; Guaoua S; Vandeweyer G; Urquhart JE; Chandler KE; Williams SG; Roberts NA; El Alloussi M; Black GC; Ferdinandusse S; Ramdi H; Heimler A; Fryer A; Lynch SA; Cooper N; Ong KR; Smith CE; Inglehearn CF; Mighell AJ; Elcock C; Poulter JA; Tischkowitz M; Davies SJ; Sefiani A; Mironov AA; Newman WG; Waterham HR; Van Camp G
Am J Hum Genet; 2015 Oct; 97(4):535-45. PubMed ID: 26387595
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Heimler Syndrome.
Mechaussier S; Perrault I; Dollfus H; Bloch-Zupan A; Loundon N; Jonard L; Marlin S
Adv Exp Med Biol; 2020; 1299():81-87. PubMed ID: 33417209
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
Walter C; Gootjes J; Mooijer PA; Portsteffen H; Klein C; Waterham HR; Barth PG; Epplen JT; Kunau WH; Wanders RJ; Dodt G
Am J Hum Genet; 2001 Jul; 69(1):35-48. PubMed ID: 11389485
[TBL] [Abstract][Full Text] [Related]
12. A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
Raas-Rothschild A; Wanders RJ; Mooijer PA; Gootjes J; Waterham HR; Gutman A; Suzuki Y; Shimozawa N; Kondo N; Eshel G; Espeel M; Roels F; Korman SH
Am J Hum Genet; 2002 Apr; 70(4):1062-8. PubMed ID: 11873320
[TBL] [Abstract][Full Text] [Related]
13. Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.
Imamura A; Shimozawa N; Suzuki Y; Zhang Z; Tsukamoto T; Fujiki Y; Orii T; Osumi T; Wanders RJ; Kondo N
Pediatr Res; 2000 Oct; 48(4):541-5. PubMed ID: 11004248
[TBL] [Abstract][Full Text] [Related]
14. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
Tamura S; Matsumoto N; Imamura A; Shimozawa N; Suzuki Y; Kondo N; Fujiki Y
Biochem J; 2001 Jul; 357(Pt 2):417-26. PubMed ID: 11439091
[TBL] [Abstract][Full Text] [Related]
15. Exome sequencing identifies
García-García G; Sanchez-Navarro I; Aller E; Jaijo T; Fuster-Garcia C; Rodríguez-Munoz A; Vallejo E; Tellería JJ; Vázquez S; Beltrán S; Derdak S; Zurita O; Villaverde-Montero C; Avila-Fernández A; Corton M; Blanco-Kelly F; Hakonarson H; Millán JM; Ayuso C
Mol Vis; 2020; 26():216-225. PubMed ID: 32214787
[TBL] [Abstract][Full Text] [Related]
16. Identification of a Homozygous
Kim YJ; Abe Y; Kim YJ; Fujiki Y; Kim JW
Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33926089
[TBL] [Abstract][Full Text] [Related]
17. Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
Berendse K; Ebberink MS; Ijlst L; Poll-The BT; Wanders RJ; Waterham HR
Orphanet J Rare Dis; 2013 Sep; 8():138. PubMed ID: 24016303
[TBL] [Abstract][Full Text] [Related]
18. Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids.
MacLean GE; Argyriou C; Di Pietro E; Sun X; Birjandian S; Saberian P; Hacia JG; Braverman NE
J Cell Biochem; 2019 Mar; 120(3):3243-3258. PubMed ID: 30362618
[TBL] [Abstract][Full Text] [Related]
19. Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis.
Judy RM; Sheedy CJ; Gardner BM
Cells; 2022 Jun; 11(13):. PubMed ID: 35805150
[TBL] [Abstract][Full Text] [Related]
20. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY; Steinberg SJ; Moser AB; Moser HW; Hacia JG
Hum Mutat; 2009 Mar; 30(3):E467-80. PubMed ID: 19105186
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
