BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 17603801)

  • 1. Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.
    Boycott KM; Parboosingh JS; Scott JN; McLeod DR; Greenberg CR; Fujiwara TM; Mah JK; Midgley J; Wade A; Bernier FP; Chodirker BN; Bunge M; Innes AM
    Am J Med Genet A; 2007 Aug; 143A(15):1715-25. PubMed ID: 17603801
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Clinical and molecular features of Joubert syndrome and related disorders.
    Parisi MA
    Am J Med Genet C Semin Med Genet; 2009 Nov; 151C(4):326-40. PubMed ID: 19876931
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The face of Joubert syndrome: a study of dysmorphology and anthropometry.
    Braddock SR; Henley KM; Maria BL
    Am J Med Genet A; 2007 Dec; 143A(24):3235-42. PubMed ID: 18000967
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Joubert syndrome and related disorders.
    Valente EM; Dallapiccola B; Bertini E
    Handb Clin Neurol; 2013; 113():1879-88. PubMed ID: 23622411
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
    Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Diagnosis of Joubert syndrome via ultrasonography.
    Buke B; Canverenler E; İpek G; Canverenler S; Akkaya H
    J Med Ultrason (2001); 2017 Apr; 44(2):197-202. PubMed ID: 27785575
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.
    Iskender CT; Tarım E; Alkan O
    J Turk Ger Gynecol Assoc; 2012; 13(2):135-8. PubMed ID: 24592023
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
    Delous M; Baala L; Salomon R; Laclef C; Vierkotten J; Tory K; Golzio C; Lacoste T; Besse L; Ozilou C; Moutkine I; Hellman NE; Anselme I; Silbermann F; Vesque C; Gerhardt C; Rattenberry E; Wolf MT; Gubler MC; Martinovic J; Encha-Razavi F; Boddaert N; Gonzales M; Macher MA; Nivet H; Champion G; Berthélémé JP; Niaudet P; McDonald F; Hildebrandt F; Johnson CA; Vekemans M; Antignac C; Rüther U; Schneider-Maunoury S; Attié-Bitach T; Saunier S
    Nat Genet; 2007 Jul; 39(7):875-81. PubMed ID: 17558409
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
    Chen CP
    Taiwan J Obstet Gynecol; 2007 Mar; 46(1):9-14. PubMed ID: 17389183
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
    Leonardi ML; Pai GS; Wilkes B; Lebel RR
    Am J Med Genet; 2001 Aug; 102(3):237-42. PubMed ID: 11484200
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity.
    Parisi MA
    Transl Sci Rare Dis; 2019 Jul; 4(1-2):25-49. PubMed ID: 31763177
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [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]  

  • 18. Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome.
    Maria BL; Bozorgmanesh A; Kimmel KN; Theriaque D; Quisling RG
    J Child Neurol; 2001 Oct; 16(10):751-8. PubMed ID: 11669349
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.
    Keeler LC; Marsh SE; Leeflang EP; Woods CG; Sztriha L; Al-Gazali L; Gururaj A; Gleeson JG
    Am J Hum Genet; 2003 Sep; 73(3):656-62. PubMed ID: 12917796
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.