190 related articles for article (PubMed ID: 30967659)
1. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams LB; Javed A; Sabri A; Morgan DJ; Huff CD; Grigg JR; Heng XT; Khng AJ; Hollink IHIM; Morrison MA; Owen LA; Anderson K; Kinard K; Greenlees R; Novacic D; Nida Sen H; Zein WM; Rodgers GM; Vitale AT; Haider NB; Hillmer AM; Ng PC; Shankaracharya ; Cheng A; Zheng L; Gillies MC; van Slegtenhorst M; van Hagen PM; Missotten TOAR; Farley GL; Polo M; Malatack J; Curtin J; Martin F; Arbuckle S; Alexander SI; Chircop M; Davila S; Digre KB; Jamieson RV; DeAngelis MM
Genet Med; 2019 Sep; 21(9):2103-2115. PubMed ID: 30967659
[TBL] [Abstract][Full Text] [Related]
2. ROSAH syndrome mimicking chronic uveitis.
Fardeau C; Alafaleq M; Dhaenens CM; Dollfus H; Koné-Paut I; Grunewald O; Morel JB; Titah C; Saadoun D; Lazeran PO; Meunier I
Clin Genet; 2023 Apr; 103(4):453-458. PubMed ID: 36543582
[TBL] [Abstract][Full Text] [Related]
3. Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.
Zhong L; Wang J; Wang W; Wang L; Quan M; Tang X; Gou L; Wei M; Xiao J; Zhang T; Sui R; Zhou Q; Song H
J Clin Immunol; 2020 Feb; 40(2):350-358. PubMed ID: 31939038
[TBL] [Abstract][Full Text] [Related]
4. Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Huryn LA; Kozycki CT; Serpen JY; Zein WM; Ullah E; Iannaccone A; Williams LB; Sobrin L; Brooks BP; Sen HN; Hufnagel RB; Kastner DL; Kodati S
Ophthalmology; 2023 Apr; 130(4):423-432. PubMed ID: 36332842
[TBL] [Abstract][Full Text] [Related]
5. Gain-of-function mutations in
Kozycki CT; Kodati S; Huryn L; Wang H; Warner BM; Jani P; Hammoud D; Abu-Asab MS; Jittayasothorn Y; Mattapallil MJ; Tsai WL; Ullah E; Zhou P; Tian X; Soldatos A; Moutsopoulos N; Kao-Hsieh M; Heller T; Cowen EW; Lee CR; Toro C; Kalsi S; Khavandgar Z; Baer A; Beach M; Long Priel D; Nehrebecky M; Rosenzweig S; Romeo T; Deuitch N; Brenchley L; Pelayo E; Zein W; Sen N; Yang AH; Farley G; Sweetser DA; Briere L; Yang J; de Oliveira Poswar F; Schwartz IVD; Silva Alves T; Dusser P; Koné-Paut I; Touitou I; Titah SM; van Hagen PM; van Wijck RTA; van der Spek PJ; Yano H; Benneche A; Apalset EM; Jansson RW; Caspi RR; Kuhns DB; Gadina M; Takada H; Ida H; Nishikomori R; Verrecchia E; Sangiorgi E; Manna R; Brooks BP; Sobrin L; Hufnagel RB; Beck D; Shao F; Ombrello AK; Aksentijevich I; Kastner DL;
Ann Rheum Dis; 2022 Oct; 81(10):1453-1464. PubMed ID: 35868845
[TBL] [Abstract][Full Text] [Related]
6. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
Vincent A; Forster N; Maynes JT; Paton TA; Billingsley G; Roslin NM; Ali A; Sutherland J; Wright T; Westall CA; Paterson AD; Marshall CR; ; Héon E
J Med Genet; 2014 Dec; 51(12):797-805. PubMed ID: 25293953
[TBL] [Abstract][Full Text] [Related]
7. ALPK1 mutants causing ROSAH syndrome or Spiradenoma are activated by human nucleotide sugars.
Snelling T; Saalfrank A; Wood NT; Cohen P
Proc Natl Acad Sci U S A; 2023 Dec; 120(50):e2313148120. PubMed ID: 38060563
[TBL] [Abstract][Full Text] [Related]
8. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Audo I; Bujakowska K; Orhan E; El Shamieh S; Sennlaub F; Guillonneau X; Antonio A; Michiels C; Lancelot ME; Letexier M; Saraiva JP; Nguyen H; Luu TD; Léveillard T; Poch O; Dollfus H; Paques M; Goureau O; Mohand-Saïd S; Bhattacharya SS; Sahel JA; Zeitz C
Hum Mol Genet; 2014 Jan; 23(2):491-501. PubMed ID: 24026677
[TBL] [Abstract][Full Text] [Related]
9. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Coppieters F; Ascari G; Dannhausen K; Nikopoulos K; Peelman F; Karlstetter M; Xu M; Brachet C; Meunier I; Tsilimbaris MK; Tsika C; Blazaki SV; Vergult S; Farinelli P; Van Laethem T; Bauwens M; De Bruyne M; Chen R; Langmann T; Sui R; Meire F; Rivolta C; Hamel CP; Leroy BP; De Baere E
Am J Hum Genet; 2016 Aug; 99(2):470-80. PubMed ID: 27486781
[TBL] [Abstract][Full Text] [Related]
10. Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Jurkute N; Shanmugarajah PD; Hadjivassiliou M; Higgs J; Vojcic M; Horrocks I; Nadjar Y; Touitou V; Lenaers G; Poh R; Acheson J; Robson AG; Raymond FL; Reilly MM; Yu-Wai-Man P; Moore AT; Webster AR; Arno G;
Invest Ophthalmol Vis Sci; 2021 May; 62(6):2. PubMed ID: 33938912
[TBL] [Abstract][Full Text] [Related]
11. C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
Khan AO; Eisenberger T; Nagel-Wolfrum K; Wolfrum U; Bolz HJ
Br J Ophthalmol; 2015 Dec; 99(12):1725-31. PubMed ID: 26294103
[TBL] [Abstract][Full Text] [Related]
12. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
Taylor RL; Arno G; Poulter JA; Khan KN; Morarji J; Hull S; Pontikos N; Rueda Martin A; Smith KR; Ali M; Toomes C; McKibbin M; Clayton-Smith J; Grunewald S; Michaelides M; Moore AT; Hardcastle AJ; Inglehearn CF; Webster AR; Black GC;
JAMA Ophthalmol; 2017 Apr; 135(4):339-347. PubMed ID: 28253385
[TBL] [Abstract][Full Text] [Related]
13. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
El-Asrag ME; Sergouniotis PI; McKibbin M; Plagnol V; Sheridan E; Waseem N; Abdelhamed Z; McKeefry D; Van Schil K; Poulter JA; ; Johnson CA; Carr IM; Leroy BP; De Baere E; Inglehearn CF; Webster AR; Toomes C; Ali M
Am J Hum Genet; 2015 Jun; 96(6):948-54. PubMed ID: 25983245
[TBL] [Abstract][Full Text] [Related]
14. Homozygous and heterozygous retinal phenotypes in families harbouring
Khan AO; Al Teneiji AM
Ophthalmic Genet; 2019 Jun; 40(3):247-251. PubMed ID: 31264916
[No Abstract] [Full Text] [Related]
15.
Grudzinska Pechhacker MK; Di Scipio M; Vig A; Tumber A; Roslin N; Tavares E; Vincent A; Hèon E
Ophthalmic Genet; 2020 Oct; 41(5):457-464. PubMed ID: 32689861
[TBL] [Abstract][Full Text] [Related]
16. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F; Van Schil K; Bauwens M; Verdin H; De Jaegher A; Syx D; Sante T; Lefever S; Abdelmoula NB; Depasse F; Casteels I; de Ravel T; Meire F; Leroy BP; De Baere E
Genet Med; 2014 Sep; 16(9):671-80. PubMed ID: 24625443
[TBL] [Abstract][Full Text] [Related]
17. An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.
LaConte LEW; Chavan V; DeLuca S; Rubin K; Malc J; Berry S; Gail Summers C; Mukherjee K
Am J Med Genet A; 2019 Jan; 179(1):94-103. PubMed ID: 30549415
[TBL] [Abstract][Full Text] [Related]
18. A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.
Fu J; Ma L; Cheng J; Yang L; Wei C; Fu S; Lv H; Chen R; Fu J
J Cell Mol Med; 2018 Nov; 22(11):5662-5669. PubMed ID: 30160356
[TBL] [Abstract][Full Text] [Related]
19. Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
Van Schil K; Meire F; Karlstetter M; Bauwens M; Verdin H; Coppieters F; Scheiffert E; Van Nechel C; Langmann T; Deconinck N; De Baere E
Genet Med; 2015 Apr; 17(4):291-9. PubMed ID: 25122145
[TBL] [Abstract][Full Text] [Related]
20. Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Hull S; Owen N; Islam F; Tracey-White D; Plagnol V; Holder GE; Michaelides M; Carss K; Raymond FL; Rozet JM; Ramsden SC; Black GC; Perrault I; Sarkar A; Moosajee M; Webster AR; Arno G; Moore AT
Invest Ophthalmol Vis Sci; 2016 Mar; 57(3):1053-62. PubMed ID: 26968735
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]