BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

292 related articles for article (PubMed ID: 29508057)

  • 1. Late-onset hydrocephalus in a child with Joubert syndrome: a case report.
    Fehrenbach MK; Nestler U; Meixensberger J; Bernhard MK; Merkenschlager A; Weise S; Krause M
    Childs Nerv Syst; 2018 Jul; 34(7):1423-1425. PubMed ID: 29508057
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prospective Evaluation of Kidney Disease in Joubert Syndrome.
    Fleming LR; Doherty DA; Parisi MA; Glass IA; Bryant J; Fischer R; Turkbey B; Choyke P; Daryanani K; Vemulapalli M; Mullikin JC; Malicdan MC; Vilboux T; Sayer JA; Gahl WA; Gunay-Aygun M
    Clin J Am Soc Nephrol; 2017 Dec; 12(12):1962-1973. PubMed ID: 29146704
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.
    Bizzari S; Hamzeh AR; Nair P; Mohamed M; Bastaki F
    Pediatr Int; 2017 Jan; 59(1):113-114. PubMed ID: 28102635
    [No Abstract]   [Full Text] [Related]  

  • 4. Nystagmus And Beyond: A Rare Ocular Motility Disorder.
    Naqaish R; Sadiq N; Salam Z; Arif AS; Parvez A
    J Ayub Med Coll Abbottabad; 2018; 30(3):476-478. PubMed ID: 30465390
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant.
    Sakurai Y; Watanabe T; Abe Y; Nawa T; Uchida T; Aoi H; Mizuguchi T; Matsumoto N; Haginoya K
    Brain Dev; 2021 Sep; 43(8):863-866. PubMed ID: 34090716
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Defective ciliogenesis in INPP5E-related Joubert syndrome.
    Hardee I; Soldatos A; Davids M; Vilboux T; Toro C; David KL; Ferreira CR; Nehrebecky M; Snow J; Thurm A; Heller T; Macnamara EF; Gunay-Aygun M; Zein WM; Gahl WA; Malicdan MCV
    Am J Med Genet A; 2017 Dec; 173(12):3231-3237. PubMed ID: 29052317
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
    Bui TPH; Nguyen NT; Ngo VD; Nguyen HN; Ly TTH; Do HD; Huynh MT
    BMC Med Genet; 2020 Jan; 21(1):18. PubMed ID: 32000717
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy.
    Gana S; Valente EM
    Dev Med Child Neurol; 2024 Jul; 66(7):834-835. PubMed ID: 38385764
    [No Abstract]   [Full Text] [Related]  

  • 9. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.
    Poretti A; Snow J; Summers AC; Tekes A; Huisman TAGM; Aygun N; Carson KA; Doherty D; Parisi MA; Toro C; Yildirimli D; Vemulapalli M; Mullikin JC; ; Cullinane AR; Vilboux T; Gahl WA; Gunay-Aygun M
    J Med Genet; 2017 Aug; 54(8):521-529. PubMed ID: 28087721
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
    Epting D; Senaratne LDS; Ott E; Holmgren A; Sumathipala D; Larsen SM; Wallmeier J; Bracht D; Frikstad KM; Crowley S; Sikiric A; Barøy T; Käsmann-Kellner B; Decker E; Decker C; Bachmann N; Patzke S; Phelps IG; Katsanis N; Giles R; Schmidts M; Zucknick M; Lienkamp SS; Omran H; Davis EE; Doherty D; Strømme P; Frengen E; Bergmann C; Misceo D
    Hum Mutat; 2020 Dec; 41(12):2179-2194. PubMed ID: 33131181
    [TBL] [Abstract][Full Text] [Related]  

  • 11. An unusual association of classical Joubert syndrome with retrocerebellar arachnoid cyst.
    Baldawa S
    Childs Nerv Syst; 2016 Jul; 32(7):1181-2. PubMed ID: 27138555
    [No Abstract]   [Full Text] [Related]  

  • 12. Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
    Enokizono M; Aida N; Niwa T; Osaka H; Naruto T; Kurosawa K; Ohba C; Suzuki T; Saitsu H; Goto T; Matsumoto N
    J Neurol Sci; 2017 May; 376():7-12. PubMed ID: 28431631
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome.
    Gafner M; Haddad L; Gupta R; Leibovitz Z; Zilberman Ron I; Ben-Sira L; Libzon S; Gindes L; Boltshauser E; Lerman-Sagie T
    Dev Med Child Neurol; 2024 Jul; 66(7):948-957. PubMed ID: 38247023
    [TBL] [Abstract][Full Text] [Related]  

  • 14. AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM.
    Erol S; Demirel N; Bas AY; Ozcan B; Celik IH; Isik DU
    Genet Couns; 2016; 27(3):367-371. PubMed ID: 30204965
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal diagnosis of Joubert syndrome: A case report and literature review.
    Zhu L; Xie L
    Medicine (Baltimore); 2017 Dec; 96(51):e8626. PubMed ID: 29390414
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Decaying molar tooth sign in Joubert syndrome and related disorders is correlated to a displacement of the corticospinal tract.
    Alves CAPF; Ferraciolli S; Matsui C; Lucato LT
    Neuroradiology; 2017 Dec; 59(12):1189-1191. PubMed ID: 29080037
    [No Abstract]   [Full Text] [Related]  

  • 17. [Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].
    Su Y; Xie J; Yu S; Luo H; Wu W; Xu Z
    Zhonghua Er Ke Za Zhi; 2015 Jun; 53(6):431-5. PubMed ID: 26310553
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome.
    Hebbar M; Kanthi A; Shukla A; Bielas S; Girisha KM
    J Hum Genet; 2018 Jul; 63(8):935-939. PubMed ID: 29695797
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Prenatal discovery of Joubert syndrome associated with small bowel volvulus].
    Aurégan C; Donciu V; Millischer AE; Khen-Dunlop N; Deloison B; Sonigo P; Magny JF
    Arch Pediatr; 2016 Mar; 23(3):301-6. PubMed ID: 26850151
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Prenatal diagnosis of Joubert syndrome:one case report and literature review].
    Wen H; Chen L; Yan K; He J
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2017 May; 46(3):274-278. PubMed ID: 29039169
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.