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 *

141 related articles for article (PubMed ID: 28726664)

  • 1. EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT).
    Tkemaladze T; Melikishvili G; Kherkheulidze V; Melikishvili A; Davitaia T
    Georgian Med News; 2017 Jun; (267):100-103. PubMed ID: 28726664
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
    Otto EA; Tory K; Attanasio M; Zhou W; Chaki M; Paruchuri Y; Wise EL; Wolf MT; Utsch B; Becker C; Nürnberg G; Nürnberg P; Nayir A; Saunier S; Antignac C; Hildebrandt F
    J Med Genet; 2009 Oct; 46(10):663-70. PubMed ID: 19508969
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
    Iannicelli M; Brancati F; Mougou-Zerelli S; Mazzotta A; Thomas S; Elkhartoufi N; Travaglini L; Gomes C; Ardissino GL; Bertini E; Boltshauser E; Castorina P; D'Arrigo S; Fischetto R; Leroy B; Loget P; Bonnière M; Starck L; Tantau J; Gentilin B; Majore S; Swistun D; Flori E; Lalatta F; Pantaleoni C; Penzien J; Grammatico P; ; Dallapiccola B; Gleeson JG; Attie-Bitach T; Valente EM
    Hum Mutat; 2010 May; 31(5):E1319-31. PubMed ID: 20232449
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
    König J; Kranz B; König S; Schlingmann KP; Titieni A; Tönshoff B; Habbig S; Pape L; Häffner K; Hansen M; Büscher A; Bald M; Billing H; Schild R; Walden U; Hampel T; Staude H; Riedl M; Gretz N; Lablans M; Bergmann C; Hildebrandt F; Omran H; Konrad M;
    Clin J Am Soc Nephrol; 2017 Dec; 12(12):1974-1983. PubMed ID: 29146700
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
    Abdelhamed ZA; Wheway G; Szymanska K; Natarajan S; Toomes C; Inglehearn C; Johnson CA
    Hum Mol Genet; 2013 Apr; 22(7):1358-72. PubMed ID: 23283079
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
    Leightner AC; Hommerding CJ; Peng Y; Salisbury JL; Gainullin VG; Czarnecki PG; Sussman CR; Harris PC
    Hum Mol Genet; 2013 May; 22(10):2024-40. PubMed ID: 23393159
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers.
    Zaki MS; Sattar S; Massoudi RA; Gleeson JG
    Am J Med Genet A; 2011 Dec; 155A(12):3042-9. PubMed ID: 22002901
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
    Tang X; Liu C; Liu X; Chen J; Fan X; Liu J; Ma D; Cao G; Chen Z; Xu D; Zhu Y; Jiang X; Cheng L; Wu Y; Hou L; Li Y; Shao X; Zheng S; Zhang A; Zheng B; Jian S; Rong Z; Su Q; Gao X; Rao J; Shen Q; Xu H; ;
    J Med Genet; 2022 Feb; 59(2):147-154. PubMed ID: 33323469
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies.
    Dahmer-Heath M; Schriever V; Kollmann S; Schleithoff C; Titieni A; Cetiner M; Patzer L; Tönshoff B; Hansen M; Pennekamp P; Gerß J; Konrad M; König J
    J Med Genet; 2021 Sep; 58(9):629-636. PubMed ID: 32917769
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
    Shi X; Garcia G; Van De Weghe JC; McGorty R; Pazour GJ; Doherty D; Huang B; Reiter JF
    Nat Cell Biol; 2017 Oct; 19(10):1178-1188. PubMed ID: 28846093
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
    Chaki M; Hoefele J; Allen SJ; Ramaswami G; Janssen S; Bergmann C; Heckenlively JR; Otto EA; Hildebrandt F
    Kidney Int; 2011 Dec; 80(11):1239-45. PubMed ID: 21866095
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
    Lee SH; Nam TS; Li W; Kim JH; Yoon W; Choi YD; Kim KH; Cai H; Kim MJ; Kim C; Choy HE; Kim N; Chay KO; Kim MK; Choi SY
    Sci Rep; 2017 Aug; 7(1):10222. PubMed ID: 28860541
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
    Brancati F; Iannicelli M; Travaglini L; Mazzotta A; Bertini E; Boltshauser E; D'Arrigo S; Emma F; Fazzi E; Gallizzi R; Gentile M; Loncarevic D; Mejaski-Bosnjak V; Pantaleoni C; Rigoli L; Salpietro CD; Signorini S; Stringini GR; Verloes A; Zabloka D; Dallapiccola B; Gleeson JG; Valente EM;
    Hum Mutat; 2009 Feb; 30(2):E432-42. PubMed ID: 19058225
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
    Utsch B; Sayer JA; Attanasio M; Pereira RR; Eccles M; Hennies HC; Otto EA; Hildebrandt F
    Pediatr Nephrol; 2006 Jan; 21(1):32-5. PubMed ID: 16240161
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.
    Soliman NA; Hildebrandt F; Otto EA; Nabhan MM; Allen SJ; Badr AM; Sheba M; Fadda S; Gawdat G; El-Kiky H
    Saudi J Kidney Dis Transpl; 2012 Sep; 23(5):1090-8. PubMed ID: 22982934
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
    Epting D; Decker E; Ott E; Eisenberger T; Bader I; Bachmann N; Bergmann C
    Hum Mol Genet; 2022 Jul; 31(14):2295-2306. PubMed ID: 35137054
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
    Otto EA; Ramaswami G; Janssen S; Chaki M; Allen SJ; Zhou W; Airik R; Hurd TW; Ghosh AK; Wolf MT; Hoppe B; Neuhaus TJ; Bockenhauer D; Milford DV; Soliman NA; Antignac C; Saunier S; Johnson CA; Hildebrandt F;
    J Med Genet; 2011 Feb; 48(2):105-16. PubMed ID: 21068128
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.