BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 36543582)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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.
    Fardeau C; Alafaleq M; Ferchaud MA; Hié M; Besnard C; Meynier S; Rieux-Laucat F; Roos-Weil D; Cohen F; Meunier I
    Int J Mol Sci; 2022 Jul; 23(14):. PubMed ID: 35887217
    [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. DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1.
    Alsulaiman HM; Schatz P; Nowilaty SR; Abdelkader E; Abu Safieh L
    Retin Cases Brief Rep; 2020; 14(2):203-210. PubMed ID: 29200130
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
    Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
    Roosing S; van den Born LI; Sangermano R; Banfi S; Koenekoop RK; Zonneveld-Vrieling MN; Klaver CC; van Lith-Verhoeven JJ; Cremers FP; den Hollander AI; Hoyng CB
    Ophthalmology; 2015 Jan; 122(1):170-9. PubMed ID: 25227500
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.
    Vincent AL; Abeysekera N; van Bysterveldt KA; Oliver VF; Ellingford JM; Barton S; Black GC
    Clin Exp Ophthalmol; 2017 Dec; 45(9):901-910. PubMed ID: 28488341
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.
    Abad-Morales V; Burés-Jelstrup A; Navarro R; Ruiz-Nogales S; Méndez-Vendrell P; Corcóstegui B; Pomares E
    Exp Eye Res; 2019 Oct; 187():107752. PubMed ID: 31394102
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
    Yang P; Chiang PW; Weleber RG; Pennesi ME
    JAMA Ophthalmol; 2015 Jun; 133(6):653-61. PubMed ID: 25789692
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
    Lazar CH; Mutsuddi M; Kimchi A; Zelinger L; Mizrahi-Meissonnier L; Marks-Ohana D; Boleda A; Ratnapriya R; Sharon D; Swaroop A; Banin E
    Invest Ophthalmol Vis Sci; 2014 Dec; 56(1):420-30. PubMed ID: 25515582
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
    Sangiorgi E; Azzarà A; Molinario C; Pietrobono R; Rigante D; Verrecchia E; Sicignano LL; Genuardi M; Gurrieri F; Manna R
    Eur J Hum Genet; 2019 Sep; 27(9):1361-1368. PubMed ID: 31053777
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.
    Xu F; Dong F; Li H; Li X; Jiang R; Sui R
    Doc Ophthalmol; 2013 Jun; 126(3):233-40. PubMed ID: 23686677
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel phenotype associated with the R162W variant in the
    Schroeder M; Peter VG; Gränse L; Andréasson S; Rivolta C; Kjellström U
    Ophthalmic Genet; 2022 Aug; 43(4):500-507. PubMed ID: 35477418
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
    Ascari G; Peelman F; Farinelli P; Rosseel T; Lambrechts N; Wunderlich KA; Wagner M; Nikopoulos K; Martens P; Balikova I; Derycke L; Holtappels G; Krysko O; Van Laethem T; De Jaegere S; Guillemyn B; De Rycke R; De Bleecker J; Creytens D; Van Dorpe J; Gerris J; Bachert C; Neuhofer C; Walraedt S; Bischoff A; Pedersen LB; Klopstock T; Rivolta C; Leroy BP; De Baere E; Coppieters F
    Hum Mutat; 2020 May; 41(5):998-1011. PubMed ID: 31999394
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.