BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 26925547)

  • 1. Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
    Jaron R; Rosenfeld N; Zahdeh F; Carmi S; Beni-Adani L; Doviner V; Picard E; Segel R; Zeligson S; Carmel L; Renbaum P; Levy-Lahad E
    Clin Genet; 2016 Dec; 90(6):540-544. PubMed ID: 26925547
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expansion of phenotype and genotypic data in CRB2-related syndrome.
    Lamont RE; Tan WH; Innes AM; Parboosingh JS; Schneidman-Duhovny D; Rajkovic A; Pappas J; Altschwager P; DeWard S; Fulton A; Gray KJ; Krall M; Mehta L; Rodan LH; Saller DN; Steele D; Stein D; Yatsenko SA; Bernier FP; Slavotinek AM
    Eur J Hum Genet; 2016 Oct; 24(10):1436-44. PubMed ID: 27004616
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
    Slavotinek A; Kaylor J; Pierce H; Cahr M; DeWard SJ; Schneidman-Duhovny D; Alsadah A; Salem F; Schmajuk G; Mehta L
    Am J Hum Genet; 2015 Jan; 96(1):162-9. PubMed ID: 25557780
    [TBL] [Abstract][Full Text] [Related]  

  • 4. IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.
    Chen X; Wang X; Jiang C; Xu M; Liu Y; Qi R; Qi X; Sun X; Xie P; Liu Q; Yan B; Sheng X; Zhao C
    Invest Ophthalmol Vis Sci; 2018 Sep; 59(11):4581-4589. PubMed ID: 30242358
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.
    Udagawa T; Jo T; Yanagihara T; Shimizu A; Mitsui J; Tsuji S; Morishita S; Onai R; Miura K; Kanda S; Kajiho Y; Tsurumi H; Oka A; Hattori M; Harita Y
    Pediatr Nephrol; 2017 May; 32(5):801-809. PubMed ID: 27942854
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
    Peña-Padilla C; Marshall CR; Walker S; Scherer SW; Tavares-Macías G; Razo-Jiménez G; Bobadilla-Morales L; Acosta-Fernández E; Corona-Rivera A; Mendoza-Londono R; Corona-Rivera JR
    Clin Genet; 2017 Apr; 91(4):640-646. PubMed ID: 27874174
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.
    Watanabe S; Aizawa T; Tsukaguchi H; Tsugawa K; Tsuruga K; Shono A; Nozu K; Iijima K; Joh K; Tanaka H
    Nephrology (Carlton); 2018 Jul; 23(7):697-702. PubMed ID: 29473663
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
    Filges I; Bruder E; Brandal K; Meier S; Undlien DE; Waage TR; Hoesli I; Schubach M; de Beer T; Sheng Y; Hoeller S; Schulzke S; Røsby O; Miny P; Tercanli S; Oppedal T; Meyer P; Selmer KK; Strømme P
    Hum Mutat; 2016 Apr; 37(4):359-63. PubMed ID: 26820108
    [TBL] [Abstract][Full Text] [Related]  

  • 9. KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.
    Sabir AH; Sheikh J; Gowda V; Wallis C; Singham S; Durve D; Cocca A; Holder-Espinasse M; Irving M
    Clin Dysmorphol; 2021 Jul; 30(3):142-146. PubMed ID: 34016807
    [TBL] [Abstract][Full Text] [Related]  

  • 10. IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.
    Moran J; G Sanderson K; Maynes J; Vig A; Batmanabane V; Kannu P; Tavares E; Vincent A; Héon E
    Clin Genet; 2018 Oct; 94(3-4):368-372. PubMed ID: 29923190
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
    Girisha KM; Shukla A; Trujillano D; Bhavani GS; Hebbar M; Kadavigere R; Rolfs A
    Clin Genet; 2016 Dec; 90(6):536-539. PubMed ID: 26880018
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
    Van De Weghe JC; Rusterholz TDS; Latour B; Grout ME; Aldinger KA; Shaheen R; Dempsey JC; Maddirevula S; Cheng YH; Phelps IG; Gesemann M; Goel H; Birk OS; Alanzi T; Rawashdeh R; Khan AO; ; Bamshad MJ; Nickerson DA; Neuhauss SCF; Dobyns WB; Alkuraya FS; Roepman R; Bachmann-Gagescu R; Doherty D
    Am J Hum Genet; 2017 Jul; 101(1):23-36. PubMed ID: 28625504
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
    Kakar N; Horn D; Decker E; Sowada N; Kubisch C; Ahmad J; Borck G; Bergmann C
    Am J Med Genet A; 2018 Feb; 176(2):438-442. PubMed ID: 29271569
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in TTC21B cause different phenotypes in two childhood cases in China.
    Zhang H; Su B; Liu X; Xiao H; Ding J; Yao Y
    Nephrology (Carlton); 2018 Apr; 23(4):371-376. PubMed ID: 28124483
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
    Bifari IN; Elkhamary SM; Bolz HJ; Khan AO
    Br J Ophthalmol; 2016 Jun; 100(6):829-33. PubMed ID: 26359340
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
    Córdova-Fletes C; Becerra-Solano LE; Rangel-Sosa MM; Rivas-Estilla AM; Alberto Galán-Huerta K; Ortiz-López R; Rojas-Martínez A; Juárez-Vázquez CI; García-Ortiz JE
    Eur J Med Genet; 2018 Mar; 61(3):161-167. PubMed ID: 29174089
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
    Devlin LA; Coles J; Jackson CL; Barroso-Gil M; Green B; Walker WT; Thomas NS; Thompson J; Rock SA; Neatu R; Powell L; Molinari E; ; Wilson IJ; Cordell HJ; Olinger E; Miles CG; Sayer JA; Wheway G; Lucas JS
    Clin Genet; 2023 Mar; 103(3):330-334. PubMed ID: 36273371
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
    van den Hurk JA; Rashbass P; Roepman R; Davis J; Voesenek KE; Arends ML; Zonneveld MN; van Roekel MH; Cameron K; Rohrschneider K; Heckenlively JR; Koenekoop RK; Hoyng CB; Cremers FP; den Hollander AI
    Mol Vis; 2005 Apr; 11():263-73. PubMed ID: 15851977
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Defects of CRB2 cause steroid-resistant nephrotic syndrome.
    Ebarasi L; Ashraf S; Bierzynska A; Gee HY; McCarthy HJ; Lovric S; Sadowski CE; Pabst W; Vega-Warner V; Fang H; Koziell A; Simpson MA; Dursun I; Serdaroglu E; Levy S; Saleem MA; Hildebrandt F; Majumdar A
    Am J Hum Genet; 2015 Jan; 96(1):153-61. PubMed ID: 25557779
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
    Zhang X; You Y; Xie X; Xu H; Zhou H; Lei Y; Sun P; Meng Y; Wang L; Lu Y
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1524. PubMed ID: 33030252
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.