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 *

198 related articles for article (PubMed ID: 15108295)

  • 1. Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.
    Hübner CA; Utermann B; Tinschert S; Krüger G; Ressler B; Steglich C; Schinzel A; Gal A
    Hum Mutat; 2004 May; 23(5):526. PubMed ID: 15108295
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prenatal diagnosis in a family with X-linked hydrocephalus.
    Panayi M; Gokhale D; Mansour S; Elles R
    Prenat Diagn; 2005 Oct; 25(10):930-3. PubMed ID: 16088863
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
    Chen X; Truong TT; Weaver J; Bove BA; Cattie K; Armstrong BA; Daly MB; Godwin AK
    Hum Mutat; 2006 May; 27(5):427-35. PubMed ID: 16619214
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus).
    Yamasaki M; Nonaka M; Suzumori N; Nakamura H; Fujita H; Namba A; Kamei Y; Yamada T; Pooh RK; Tanemura M; Sudo N; Nagasaka M; Yoshioka E; Shofuda T; Kanemura Y
    J Neurosurg Pediatr; 2011 Oct; 8(4):411-6. PubMed ID: 21961551
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
    Bertolin C; Boaretto F; Barbon G; Salviati L; Lapi E; Divizia MT; Garavelli L; Occhi G; Vazza G; Mostacciuolo ML
    J Neurol Sci; 2010 Jul; 294(1-2):124-6. PubMed ID: 20447653
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel L1CAM mutation with L1 spectrum disorders.
    Silan F; Ozdemir I; Lissens W
    Prenat Diagn; 2005 Jan; 25(1):57-9. PubMed ID: 15662685
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
    Mukhopadhyay A; Nikopoulos K; Maugeri A; de Brouwer AP; van Nouhuys CE; Boon CJ; Perveen R; Zegers HA; Wittebol-Post D; van den Biesen PR; van der Velde-Visser SD; Brunner HG; Black GC; Hoyng CB; Cremers FP
    Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An updated and upgraded L1CAM mutation database.
    Vos YJ; Hofstra RM
    Hum Mutat; 2010 Jan; 31(1):E1102-9. PubMed ID: 19953645
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus.
    Rosenthal A; Jouet M; Kenwrick S
    Nat Genet; 1992 Oct; 2(2):107-12. PubMed ID: 1303258
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A duplication in the L1CAM gene associated with X-linked hydrocephalus.
    Van Camp G; Vits L; Coucke P; Lyonnet S; Schrander-Stumpel C; Darby J; Holden J; Munnich A; Willems PJ
    Nat Genet; 1993 Aug; 4(4):421-5. PubMed ID: 8401593
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.
    Kanemura Y; Okamoto N; Sakamoto H; Shofuda T; Kamiguchi H; Yamasaki M
    J Neurosurg; 2006 Nov; 105(5 Suppl):403-12. PubMed ID: 17328266
    [TBL] [Abstract][Full Text] [Related]  

  • 13. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
    Vits L; Van Camp G; Coucke P; Fransen E; De Boulle K; Reyniers E; Korn B; Poustka A; Wilson G; Schrander-Stumpel C
    Nat Genet; 1994 Jul; 7(3):408-13. PubMed ID: 7920660
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
    Weller S; Gärtner J
    Hum Mutat; 2001; 18(1):1-12. PubMed ID: 11438988
    [TBL] [Abstract][Full Text] [Related]  

  • 15. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
    Jouet M; Rosenthal A; Armstrong G; MacFarlane J; Stevenson R; Paterson J; Metzenberg A; Ionasescu V; Temple K; Kenwrick S
    Nat Genet; 1994 Jul; 7(3):402-7. PubMed ID: 7920659
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
    MacFarlane JR; Du JS; Pepys ME; Ramsden S; Donnai D; Charlton R; Garrett C; Tolmie J; Yates JR; Berry C; Goudie D; Moncla A; Lunt P; Hodgson S; Jouet M; Kenwrick S
    Hum Mutat; 1997; 9(6):512-8. PubMed ID: 9195224
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).
    Ferese R; Zampatti S; Griguoli AM; Fornai F; Giardina E; Barrano G; Albano V; Campopiano R; Scala S; Novelli G; Gambardella S
    J Mol Neurosci; 2016 Jul; 59(3):376-81. PubMed ID: 27207492
    [TBL] [Abstract][Full Text] [Related]  

  • 18. X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.
    Goto M; Katsumata N
    Horm Res; 2009; 71(2):120-4. PubMed ID: 19129717
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
    Okamoto N; Wada Y; Kawabata H; Ishikiriyama S; Takahashi S
    Jpn J Hum Genet; 1996 Dec; 41(4):431-7. PubMed ID: 9088116
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
    Saugier-Veber P; Martin C; Le Meur N; Lyonnet S; Munnich A; David A; Hénocq A; Héron D; Jonveaux P; Odent S; Manouvrier S; Moncla A; Morichon N; Philip N; Satge D; Tosi M; Frébourg T
    Hum Mutat; 1998; 12(4):259-66. PubMed ID: 9744477
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.