These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

256 related articles for article (PubMed ID: 28800606)

  • 1. Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.
    Castro-Sánchez S; Álvarez-Satta M; Tohamy MA; Beltran S; Derdak S; Valverde D
    PLoS One; 2017; 12(8):e0183081. PubMed ID: 28800606
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Syndromic ciliopathy: a taiwanese single-center study.
    Pan YW; Ou TY; Chou YY; Kuo PL; Hsiao HP; Chiu PC; Lin JL; Lo FS; Wang CH; Chen PC; Tsai MC
    BMC Med Genomics; 2024 Apr; 17(1):106. PubMed ID: 38671463
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterizing the morbid genome of ciliopathies.
    Shaheen R; Szymanska K; Basu B; Patel N; Ewida N; Faqeih E; Al Hashem A; Derar N; Alsharif H; Aldahmesh MA; Alazami AM; Hashem M; Ibrahim N; Abdulwahab FM; Sonbul R; Alkuraya H; Alnemer M; Al Tala S; Al-Husain M; Morsy H; Seidahmed MZ; Meriki N; Al-Owain M; AlShahwan S; Tabarki B; Salih MA; ; Faquih T; El-Kalioby M; Ueffing M; Boldt K; Logan CV; Parry DA; Al Tassan N; Monies D; Megarbane A; Abouelhoda M; Halees A; Johnson CA; Alkuraya FS
    Genome Biol; 2016 Nov; 17(1):242. PubMed ID: 27894351
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
    Shamseldin HE; Al Mogarri I; Alqwaiee MM; Alharbi AS; Baqais K; AlSaadi M; AlAnzi T; Alhashem A; Saghier A; Ameen W; Ibrahim N; Yang J; Abdulwahab F; Hashem M; Chivukula RR; Alkuraya FS
    Hum Genet; 2020 Oct; 139(10):1273-1283. PubMed ID: 32367404
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
    Estrada-Cuzcano A; Etard C; Delvallée C; Stoetzel C; Schaefer E; Scheidecker S; Geoffroy V; Schneider A; Studer F; Mattioli F; Chennen K; Sigaudy S; Plassard D; Poch O; Piton A; Strahle U; Muller J; Dollfus H
    Hum Mutat; 2020 Jan; 41(1):240-254. PubMed ID: 31549751
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain].
    Castro-Sánchez S; Álvarez-Satta M; Pereiro I; Piñeiro-Gallego MT; Valverde D
    Med Clin (Barc); 2015 Aug; 145(4):147-52. PubMed ID: 25087209
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.
    Al Alawi I; Al Riyami M; Barroso-Gil M; Powell L; Olinger E; Al Salmi I; Sayer JA
    F1000Res; 2021; 10():207. PubMed ID: 34354814
    [No Abstract]   [Full Text] [Related]  

  • 8. Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
    Yamamura T; Morisada N; Nozu K; Minamikawa S; Ishimori S; Toyoshima D; Ninchoji T; Yasui M; Taniguchi-Ikeda M; Morioka I; Nakanishi K; Nishio H; Iijima K
    Clin Exp Nephrol; 2017 Feb; 21(1):136-142. PubMed ID: 26968886
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
    Zhang W; Taylor SP; Ennis HA; Forlenza KN; Duran I; Li B; Sanchez JAO; Nevarez L; Nickerson DA; Bamshad M; ; Lachman RS; Krakow D; Cohn DH
    Hum Mutat; 2018 Jan; 39(1):152-166. PubMed ID: 29068549
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.
    Eintracht J; Forsythe E; May-Simera H; Moosajee M
    EBioMedicine; 2021 Aug; 70():103515. PubMed ID: 34365092
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice.
    Husson H; Bukanov NO; Moreno S; Smith MM; Richards B; Zhu C; Picariello T; Park H; Wang B; Natoli TA; Smith LA; Zanotti S; Russo RJ; Madden SL; Klinger KW; Modur V; Ibraghimov-Beskrovnaya O
    Hum Mol Genet; 2020 Aug; 29(15):2508-2522. PubMed ID: 32620959
    [TBL] [Abstract][Full Text] [Related]  

  • 12. BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.
    Khan S; Lin S; Harlalka GV; Ullah A; Shah K; Khalid S; Mehmood S; Hassan MJ; Ahmad W; Self JE; Crosby AH; Baple EL; Gul A
    Ann Hum Genet; 2019 Nov; 83(6):477-482. PubMed ID: 31173343
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Renal Pathology of Ciliopathies.
    Sekar T; Sebire NJ
    Pediatr Dev Pathol; 2024; 27(5):411-425. PubMed ID: 38616607
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
    Best S; Yu J; Lord J; Roche M; Watson CM; Bevers RPJ; Stuckey A; Madhusudhan S; Jewell R; Sisodiya SM; Lin S; Turner S; Robinson H; Leslie JS; Baple E; ; Toomes C; Inglehearn C; Wheway G; Johnson CA
    J Med Genet; 2022 Dec; 59(12):1151-1164. PubMed ID: 35764379
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.
    Kim MK; Kwak SH; Kang S; Jung HS; Cho YM; Kim SY; Park KS
    Diabetes Metab J; 2015 Oct; 39(5):439-43. PubMed ID: 26566502
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ulk4 Is Essential for Ciliogenesis and CSF Flow.
    Liu M; Guan Z; Shen Q; Lalor P; Fitzgerald U; O'Brien T; Dockery P; Shen S
    J Neurosci; 2016 Jul; 36(29):7589-600. PubMed ID: 27445138
    [TBL] [Abstract][Full Text] [Related]  

  • 17. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
    Hammarsjö A; Pettersson M; Chitayat D; Handa A; Anderlid BM; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH; Horemuzova E; Hyodo H; Korņejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
    J Hum Genet; 2021 Oct; 66(10):995-1008. PubMed ID: 33875766
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
    Waters AM; Asfahani R; Carroll P; Bicknell L; Lescai F; Bright A; Chanudet E; Brooks A; Christou-Savina S; Osman G; Walsh P; Bacchelli C; Chapgier A; Vernay B; Bader DM; Deshpande C; O' Sullivan M; Ocaka L; Stanescu H; Stewart HS; Hildebrandt F; Otto E; Johnson CA; Szymanska K; Katsanis N; Davis E; Kleta R; Hubank M; Doxsey S; Jackson A; Stupka E; Winey M; Beales PL
    J Med Genet; 2015 Mar; 52(3):147-56. PubMed ID: 25564561
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
    Kang HG; Lee HK; Ahn YH; Joung JG; Nam J; Kim NK; Ko JM; Cho MH; Shin JI; Kim J; Park HW; Park YS; Ha IS; Chung WY; Lee DY; Kim SY; Park WY; Cheong HI
    Exp Mol Med; 2016 Aug; 48(8):e251. PubMed ID: 27491411
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.