BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

339 related articles for article (PubMed ID: 17377524)

  • 1. Joubert syndrome (and related disorders) (OMIM 213300).
    Parisi MA; Doherty D; Chance PF; Glass IA
    Eur J Hum Genet; 2007 May; 15(5):511-21. PubMed ID: 17377524
    [TBL] [Abstract][Full Text] [Related]  

  • 2. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
    Tory K; Lacoste T; Burglen L; Morinière V; Boddaert N; Macher MA; Llanas B; Nivet H; Bensman A; Niaudet P; Antignac C; Salomon R; Saunier S
    J Am Soc Nephrol; 2007 May; 18(5):1566-75. PubMed ID: 17409309
    [TBL] [Abstract][Full Text] [Related]  

  • 3. DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
    Kroes HY; van Zon PH; Fransen van de Putte D; Nelen MR; Nievelstein RJ; Wittebol-Post D; van Nieuwenhuizen O; Mancini GM; van der Knaap MS; Kwee ML; Maas SM; Cobben JM; De Nef JE; Lindhout D; Sinke RJ
    Eur J Med Genet; 2008; 51(1):24-34. PubMed ID: 18054307
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Joubert's syndrome: report of 12 cases].
    Barreirinho MS; Teixeira J; Moreira NC; Bastos S; Gonçalvez S; Barbot MC
    Rev Neurol; 2001 May 1-15; 32(9):812-7. PubMed ID: 11424029
    [TBL] [Abstract][Full Text] [Related]  

  • 5. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
    Parisi MA; Doherty D; Eckert ML; Shaw DW; Ozyurek H; Aysun S; Giray O; Al Swaid A; Al Shahwan S; Dohayan N; Bakhsh E; Indridason OS; Dobyns WB; Bennett CL; Chance PF; Glass IA
    J Med Genet; 2006 Apr; 43(4):334-9. PubMed ID: 16155189
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts.
    Marsh SE; Grattan-Smith P; Pereira J; Barkovich AJ; Gleeson JG
    J Child Neurol; 2004 Mar; 19(3):227-31. PubMed ID: 15119486
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Neuro-ophthalmological and ophthalmological findings in Joubert syndrome].
    Schild AM; Fricke J; Herkenrath P; Bolz H; Neugebauer A
    Klin Monbl Augenheilkd; 2010 Oct; 227(10):786-91. PubMed ID: 20963681
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotypes and phenotypes of Joubert syndrome and related disorders.
    Valente EM; Brancati F; Dallapiccola B
    Eur J Med Genet; 2008; 51(1):1-23. PubMed ID: 18164675
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular genetic analysis of 30 families with Joubert syndrome.
    Suzuki T; Miyake N; Tsurusaki Y; Okamoto N; Alkindy A; Inaba A; Sato M; Ito S; Muramatsu K; Kimura S; Ieda D; Saitoh S; Hiyane M; Suzumura H; Yagyu K; Shiraishi H; Nakajima M; Fueki N; Habata Y; Ueda Y; Komatsu Y; Yan K; Shimoda K; Shitara Y; Mizuno S; Ichinomiya K; Sameshima K; Tsuyusaki Y; Kurosawa K; Sakai Y; Haginoya K; Kobayashi Y; Yoshizawa C; Hisano M; Nakashima M; Saitsu H; Takeda S; Matsumoto N
    Clin Genet; 2016 Dec; 90(6):526-535. PubMed ID: 27434533
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Joubert syndrome associated with new MRI findings and posterior reversible encephalopathy syndrome.
    Yerdelen D; Koç F; Koç Z
    Acta Neurol Belg; 2009 Mar; 109(1):49-52. PubMed ID: 19402575
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
    Baala L; Romano S; Khaddour R; Saunier S; Smith UM; Audollent S; Ozilou C; Faivre L; Laurent N; Foliguet B; Munnich A; Lyonnet S; Salomon R; Encha-Razavi F; Gubler MC; Boddaert N; de Lonlay P; Johnson CA; Vekemans M; Antignac C; Attie-Bitach T
    Am J Hum Genet; 2007 Jan; 80(1):186-94. PubMed ID: 17160906
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Joubert Syndrome and related disorders.
    Brancati F; Dallapiccola B; Valente EM
    Orphanet J Rare Dis; 2010 Jul; 5():20. PubMed ID: 20615230
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Joubert syndrome: a major brain malformation.
    Ray J; Majumder AG; Das D; Mukhopadhyay D; Mondol S
    J Indian Med Assoc; 2007 Jul; 105(7):392-4. PubMed ID: 18178993
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical nosologic and genetic aspects of Joubert and related syndromes.
    Chance PF; Cavalier L; Satran D; Pellegrino JE; Koenig M; Dobyns WB
    J Child Neurol; 1999 Oct; 14(10):660-6; discussion 669-72. PubMed ID: 10511339
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
    Frank V; den Hollander AI; Brüchle NO; Zonneveld MN; Nürnberg G; Becker C; Du Bois G; Kendziorra H; Roosing S; Senderek J; Nürnberg P; Cremers FP; Zerres K; Bergmann C
    Hum Mutat; 2008 Jan; 29(1):45-52. PubMed ID: 17705300
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
    Satran D; Pierpont ME; Dobyns WB
    Am J Med Genet; 1999 Oct; 86(5):459-69. PubMed ID: 10508989
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Joubert syndrome: an affected female with bilateral colobomata.
    Dahlstrom JE; Cookman J; Jain S
    Pathology; 2000 Nov; 32(4):283-5. PubMed ID: 11186426
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Joubert syndrome: Molecular basis and treatment.
    Spahiu L; Behluli E; Grajçevci-Uka V; Liehr T; Temaj G
    J Mother Child; 2022 Mar; 26(1):118-123. PubMed ID: 36803942
    [TBL] [Abstract][Full Text] [Related]  

  • 19. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
    Valente EM; Brancati F; Silhavy JL; Castori M; Marsh SE; Barrano G; Bertini E; Boltshauser E; Zaki MS; Abdel-Aleem A; Abdel-Salam GM; Bellacchio E; Battini R; Cruse RP; Dobyns WB; Krishnamoorthy KS; Lagier-Tourenne C; Magee A; Pascual-Castroviejo I; Salpietro CD; Sarco D; Dallapiccola B; Gleeson JG;
    Ann Neurol; 2006 Mar; 59(3):527-34. PubMed ID: 16453322
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Joubert syndrome: insights into brain development, cilium biology, and complex disease.
    Doherty D
    Semin Pediatr Neurol; 2009 Sep; 16(3):143-54. PubMed ID: 19778711
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.