BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 34627237)

  • 21. 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]  

  • 22. 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]  

  • 23. [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]  

  • 24. Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.
    Zhu H; Chen W; Ren H; Zhang Y; Niu Y; Wu D; Jiang L
    Eur J Med Genet; 2021 Jun; 64(6):104212. PubMed ID: 33794348
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Early second-trimester molar tooth sign.
    Shen O; Ben-Sira L; Rosenak D; Michaelson-Cohen R
    Fetal Diagn Ther; 2014; 36(3):259-62. PubMed ID: 24903086
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A case of Joubert syndrome caused by novel compound heterozygous variants in the
    Kozina AA; Kanaeva GK; Baryshnikova NV; Ilinskaya AY; Kim AA; Erofeeva AV; Pogodina NA; Gadzhiyeva JP; Surkova EI; Ilinsky VV
    J Int Med Res; 2023 Oct; 51(10):3000605231206294. PubMed ID: 37910852
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.
    Li Q; Liu Q; Liu S; Yu L; Yang Z; Wang C; Wang J; Sun S
    BMC Pediatr; 2023 Nov; 23(1):590. PubMed ID: 37993833
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
    D'Abrusco F; Arrigoni F; Serpieri V; Romaniello R; Caputi C; Manti F; Jocic-Jakubi B; Lucarelli E; Panzeri E; Bonaglia MC; Chiapparini L; Pichiecchio A; Pinelli L; Righini A; Leuzzi V; Borgatti R; Valente EM
    Cerebellum; 2022 Dec; 21(6):1144-1150. PubMed ID: 34846692
    [TBL] [Abstract][Full Text] [Related]  

  • 30. TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
    Maglic D; Stephen J; Malicdan MC; Guo J; Fischer R; Konzman D; ; Mullikin JC; Gahl WA; Vilboux T; Gunay-Aygun M
    Hum Mutat; 2016 Nov; 37(11):1144-1148. PubMed ID: 27449316
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850).
    Rosati J; Altieri F; Tardivo S; Turco EM; Goldoni M; Spasari I; Ferrari D; Bernardini L; Lamorte G; Valente EM; Vescovi AL
    Stem Cell Res; 2018 Mar; 27():74-77. PubMed ID: 29334628
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel variant in C5ORF42 gene is associated with Joubert syndrome.
    Mardani R; Taghizadeh E; Taheri F; Raeisi M; Karimzadeh MR; Rostami D; Ferns GA; Ghayour-Mobarhan M
    Mol Biol Rep; 2020 May; 47(5):4099-4103. PubMed ID: 32367316
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
    Stephen J; Vilboux T; Mian L; Kuptanon C; Sinclair CM; Yildirimli D; Maynard DM; Bryant J; Fischer R; Vemulapalli M; Mullikin JC; ; Huizing M; Gahl WA; Malicdan MCV; Gunay-Aygun M
    Hum Genet; 2017 Apr; 136(4):399-408. PubMed ID: 28220259
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. [Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome].
    Zhao D; Chu Y; Yang K; Huo X; Lei X; Yang Y; Zhang C; Xiao H; Liao S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):21-25. PubMed ID: 36584995
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.
    Liu Q; Wang H; Zhao J; Liu Z; Sun D; Yuan A; Luo G; Wei W; Hou M
    Int J Dev Neurosci; 2020 Oct; 80(6):455-463. PubMed ID: 32233090
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
    Radha Rama Devi A; Naushad SM; Lingappa L
    Pediatr Neurol; 2020 May; 106():43-49. PubMed ID: 32139166
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 9.