These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 22791856)

  • 1. A child with delayed milestones and interesting findings on MR.
    Agrawal S
    BMJ Case Rep; 2010 Nov; 2010():. PubMed ID: 22791856
    [No Abstract]   [Full Text] [Related]  

  • 2. [Strabismus, nystagmus, and generalized hypotonia in a 7-month-old child].
    Nagi S; Brahim I; Hammami N; Drissi C; Ben Ammou B; Miladi N; Ben Hamouda M
    Arch Pediatr; 2012 Jan; 19(1):62-3, 74-6. PubMed ID: 22130616
    [No Abstract]   [Full Text] [Related]  

  • 3. Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?
    Simms RJ; Sayer JA
    Pediatr Radiol; 2010 Sep; 40(9):1581; author reply 1582. PubMed ID: 20490483
    [No Abstract]   [Full Text] [Related]  

  • 4. Clinical utility gene card for: Joubert syndrome.
    Valente EM; Brancati F; Boltshauser E; Dallapiccola B
    Eur J Hum Genet; 2011 Sep; 19(9):. PubMed ID: 21448235
    [No Abstract]   [Full Text] [Related]  

  • 5. Clinical utility gene card for: Joubert syndrome--update 2013.
    Valente EM; Brancati F; Boltshauser E; Dallapiccola B
    Eur J Hum Genet; 2013 Oct; 21(10):. PubMed ID: 23403901
    [No Abstract]   [Full Text] [Related]  

  • 6. [A neonate with developmental retardation].
    Bloemenkamp DG; Poll-The BT; Majoie CB
    Ned Tijdschr Geneeskd; 2011; 155():A1561. PubMed ID: 21382210
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molar tooth sign. Joubert syndrome.
    Ghosh PS; Moodley M
    J Paediatr Child Health; 2012 Aug; 48(8):709, 714. PubMed ID: 22882414
    [No Abstract]   [Full Text] [Related]  

  • 8. Joubert syndrome overlapping with Dandy-Walker malformation.
    Bozkurt O; Nur Sari F; Alyamaç Dizdar E; Suna Oguz S; Dilmen U
    Genet Couns; 2014; 25(1):75-6. PubMed ID: 24783660
    [No Abstract]   [Full Text] [Related]  

  • 9. C5orf42 is the major gene responsible for OFD syndrome type VI.
    Lopez E; Thauvin-Robinet C; Reversade B; Khartoufi NE; Devisme L; Holder M; Ansart-Franquet H; Avila M; Lacombe D; Kleinfinger P; Kaori I; Takanashi J; Le Merrer M; Martinovic J; Noël C; Shboul M; Ho L; Güven Y; Razavi F; Burglen L; Gigot N; Darmency-Stamboul V; Thevenon J; Aral B; Kayserili H; Huet F; Lyonnet S; Le Caignec C; Franco B; Rivière JB; Faivre L; Attié-Bitach T
    Hum Genet; 2014 Mar; 133(3):367-77. PubMed ID: 24178751
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.
    Deacon BS; Lowery RS; Phillips PH; Schaefer GB
    J AAPOS; 2013 Jun; 17(3):332-3. PubMed ID: 23683649
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Joubert syndrome labeled as hypotonic cerebral palsy.
    Dekair LH; Kamel H; El-Bashir HO
    Neurosciences (Riyadh); 2014 Jul; 19(3):233-5. PubMed ID: 24983287
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
    Poretti A; Vitiello G; Hennekam RC; Arrigoni F; Bertini E; Borgatti R; Brancati F; D'Arrigo S; Faravelli F; Giordano L; Huisman TA; Iannicelli M; Kluger G; Kyllerman M; Landgren M; Lees MM; Pinelli L; Romaniello R; Scheer I; Schwarz CE; Spiegel R; Tibussek D; Valente EM; Boltshauser E
    Orphanet J Rare Dis; 2012 Jan; 7():4. PubMed ID: 22236771
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Joubert syndrome and related disorders.
    Paprocka J; Jamroz E
    Neurol Neurochir Pol; 2012; 46(4):379-83. PubMed ID: 23023437
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome.
    Papanagnu E; Klaehn LD; Bang GM; Ghadban R; Mohney BG; Brodsky MC
    J AAPOS; 2014 Aug; 18(4):404-7. PubMed ID: 25173907
    [TBL] [Abstract][Full Text] [Related]  

  • 15. ['Molar tooth' sign].
    Viñas JM; González MJ; Ribes AG; Errasti IS
    An Pediatr (Barc); 2012 Feb; 76(2):105-6. PubMed ID: 21763226
    [No Abstract]   [Full Text] [Related]  

  • 16. Joubert syndrome: a case report.
    Singh J; Gathwala G; Agarwal S; Monika ; Vaswani ND
    J Indian Med Assoc; 2011 May; 109(5):348-9. PubMed ID: 22187775
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The child with jerking eyes and gait.
    Cherian EV; Shenoy KV; Shetty G; Ambati NR
    BMJ Case Rep; 2013 Jan; 2013():. PubMed ID: 23370957
    [No Abstract]   [Full Text] [Related]  

  • 18. Molar tooth sign is not pathognomonic for Joubert syndrome.
    Dirik MA; Yiş U; Dirik E
    Pediatr Neurol; 2013 Dec; 49(6):515-6. PubMed ID: 24120651
    [No Abstract]   [Full Text] [Related]  

  • 19. Joubert syndrome type I: neuroimaging findings in addition to the 'molar tooth' sign.
    Kaur S; Kulkarni K
    BMJ Case Rep; 2010 Apr; 2010():. PubMed ID: 22736560
    [No Abstract]   [Full Text] [Related]  

  • 20. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
    Tsurusaki Y; Kobayashi Y; Hisano M; Ito S; Doi H; Nakashima M; Saitsu H; Matsumoto N; Miyake N
    J Hum Genet; 2013 Feb; 58(2):113-5. PubMed ID: 23034536
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.