116 related articles for article (PubMed ID: 20108204)
1. Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders.
Senocak EU; Oğuz KK; Haliloğlu G; Topçu M; Cila A
Diagn Interv Radiol; 2010 Mar; 16(1):3-6. PubMed ID: 20108204
[TBL] [Abstract][Full Text] [Related]
2. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
Maria BL; Quisling RG; Rosainz LC; Yachnis AT; Gitten J; Dede D; Fennell E
J Child Neurol; 1999 Jun; 14(6):368-76. PubMed ID: 10385844
[TBL] [Abstract][Full Text] [Related]
3. Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders.
Fluss J; Blaser S; Chitayat D; Akoury H; Glanc P; Skidmore M; Raybaud C
J Child Neurol; 2006 Apr; 21(4):320-4. PubMed ID: 16900929
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [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]
6. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Brancati F; Barrano G; Silhavy JL; Marsh SE; Travaglini L; Bielas SL; Amorini M; Zablocka D; Kayserili H; Al-Gazali L; Bertini E; Boltshauser E; D'Hooghe M; Fazzi E; Fenerci EY; Hennekam RC; Kiss A; Lees MM; Marco E; Phadke SR; Rigoli L; Romano S; Salpietro CD; Sherr EH; Signorini S; Stromme P; Stuart B; Sztriha L; Viskochil DH; Yuksel A; Dallapiccola B; ; Valente EM; Gleeson JG
Am J Hum Genet; 2007 Jul; 81(1):104-13. PubMed ID: 17564967
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding.
Harting I; Kotzaeridou U; Poretti A; Seitz A; Pietz J; Bendszus M; Boltshauser E
AJNR Am J Neuroradiol; 2011 Aug; 32(7):1286-9. PubMed ID: 21636654
[TBL] [Abstract][Full Text] [Related]
9. Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders.
Saleem SN; Zaki MS; Soliman NA; Momtaz M
Neuropediatrics; 2011 Feb; 42(1):35-8. PubMed ID: 21500139
[TBL] [Abstract][Full Text] [Related]
10. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F; Travaglini L; Zablocka D; Boltshauser E; Accorsi P; Montagna G; Silhavy JL; Barrano G; Bertini E; Emma F; Rigoli L; ; Dallapiccola B; Gleeson JG; Valente EM
Clin Genet; 2008 Aug; 74(2):164-70. PubMed ID: 18565097
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. The 'molar tooth sign' in Joubert syndrome.
Rehman Iu; Bett Z; Husen Y; Akhtar AS; Khan FA
J Pak Med Assoc; 2009 Dec; 59(12):851-3. PubMed ID: 20201180
[TBL] [Abstract][Full Text] [Related]
13. Ophthalmic features of Joubert syndrome.
Khan AO; Oystreck DT; Seidahmed MZ; AlDrees A; Elmalik SA; Alorainy IA; Salih MA
Ophthalmology; 2008 Dec; 115(12):2286-9. PubMed ID: 19041481
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
Gleeson JG; Keeler LC; Parisi MA; Marsh SE; Chance PF; Glass IA; Graham JM; Maria BL; Barkovich AJ; Dobyns WB
Am J Med Genet A; 2004 Mar; 125A(2):125-34; discussion 117. PubMed ID: 14981712
[TBL] [Abstract][Full Text] [Related]
16. 'Molar tooth' sign in Joubert syndrome.
Mallick D; Thapa R
Pediatr Radiol; 2010 Jan; 40(1):131. PubMed ID: 19582441
[No Abstract] [Full Text] [Related]
17. 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]
18. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D; Parisi MA; Finn LS; Gunay-Aygun M; Al-Mateen M; Bates D; Clericuzio C; Demir H; Dorschner M; van Essen AJ; Gahl WA; Gentile M; Gorden NT; Hikida A; Knutzen D; Ozyurek H; Phelps I; Rosenthal P; Verloes A; Weigand H; Chance PF; Dobyns WB; Glass IA
J Med Genet; 2010 Jan; 47(1):8-21. PubMed ID: 19574260
[TBL] [Abstract][Full Text] [Related]
19. Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.
Caridi G; Dagnino M; Rossi A; Valente EM; Bertini E; Fazzi E; Emma F; Murer L; Verrina E; Ghiggeri GM
Kidney Int; 2006 Oct; 70(7):1342-7. PubMed ID: 16900087
[TBL] [Abstract][Full Text] [Related]
20. The molar tooth sign of Joubert syndrome.
Kumar J; Kumar A; Saha S
Arch Neurol; 2007 Apr; 64(4):602-3. PubMed ID: 17420326
[No Abstract] [Full Text] [Related]
[Next] [New Search]
