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 *

112 related articles for article (PubMed ID: 10191125)

  • 1. A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.
    Wheeler RB; Sharp JD; Mitchell WA; Bate SL; Williams RE; Lake BD; Gardiner RM
    Mol Genet Metab; 1999 Apr; 66(4):337-8. PubMed ID: 10191125
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
    Siintola E; Topcu M; Kohlschütter A; Salonen T; Joensuu T; Anttonen AK; Lehesjoki AE
    Clin Genet; 2005 Aug; 68(2):167-73. PubMed ID: 15996215
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.
    Sharp JD; Wheeler RB; Lake BD; Fox M; Gardiner RM; Williams RE
    Mol Genet Metab; 1999 Apr; 66(4):329-31. PubMed ID: 10191123
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
    Aiello C; Terracciano A; Simonati A; Discepoli G; Cannelli N; Claps D; Crow YJ; Bianchi M; Kitzmuller C; Longo D; Tavoni A; Franzoni E; Tessa A; Veneselli E; Boldrini R; Filocamo M; Williams RE; Bertini ES; Biancheri R; Carrozzo R; Mole SE; Santorelli FM
    Hum Mutat; 2009 Mar; 30(3):E530-40. PubMed ID: 19177532
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.
    Sharp J; Savukoski M; Wheeler RB; Harris J; Järvelä I; Peltonen L; Gardiner M; Williams R
    Am J Med Genet; 1995 Jun; 57(2):348-9. PubMed ID: 7668361
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
    Ranta S; Topcu M; Tegelberg S; Tan H; Ustübütün A; Saatci I; Dufke A; Enders H; Pohl K; Alembik Y; Mitchell WA; Mole SE; Lehesjoki AE
    Hum Mutat; 2004 Apr; 23(4):300-5. PubMed ID: 15024724
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.
    Mitchell WA; Wheeler RB; Sharp JD; Bate SL; Gardiner RM; Ranta US; Lonka L; Williams RE; Lehesjoki AE; Mole SE
    Eur J Paediatr Neurol; 2001; 5 Suppl A():21-7. PubMed ID: 11589000
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
    Sharp JD; Wheeler RB; Lake BD; Savukoski M; Järvelä IE; Peltonen L; Gardiner RM; Williams RE
    Hum Mol Genet; 1997 Apr; 6(4):591-5. PubMed ID: 9097964
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
    Pérez-Poyato M S; Milà-Recasens M; Ferrer-Abizanda I; Cusí-Sánchez V; Vázquez-López M; Camino-León R; Coll-Rosell MJ; Gort L; Pineda-Marfà M
    Rev Neurol; 2012 May; 54(9):544-50. PubMed ID: 22532218
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
    O'Rawe A; Mitchison HM; Williams R; Wheeler R; Andermann E; Andermann F; Hart YM; Martin JJ; Philippart M; Stephenson JB; Gardiner RM; Mole SE
    Neuropediatrics; 1997 Feb; 28(1):21-2. PubMed ID: 9151314
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.
    Al-Muhaizea MA; Al-Hassnan ZN; Chedrawi A
    Pediatr Neurol; 2009 Jul; 41(1):74-6. PubMed ID: 19520283
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
    Teixeira CA; Espinola J; Huo L; Kohlschütter J; Persaud Sawin DA; Minassian B; Bessa CJ; Guimarães A; Stephan DA; Sá Miranda MC; MacDonald ME; Ribeiro MG; Boustany RM
    Hum Mutat; 2003 May; 21(5):502-8. PubMed ID: 12673792
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Progress toward positional cloning of ovine neuronal ceroid lipofuscinosis, a model of the human late-infantile variant CLN6.
    Broom MF; Zhou C; Hill DF
    Mol Genet Metab; 1999 Apr; 66(4):373-5. PubMed ID: 10191131
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.
    Klockars T; Savukoski M; Isosomppi J; Laan M; Järvelä I; Petrukhin K; Palotie A; Peltonen L
    Genomics; 1996 Jul; 35(1):71-8. PubMed ID: 8661106
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5).
    Rapola J; Lake BD
    Neuropediatrics; 2000 Feb; 31(1):33-4. PubMed ID: 10774993
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
    Sharp JD; Wheeler RB; Parker KA; Gardiner RM; Williams RE; Mole SE
    Hum Mutat; 2003 Jul; 22(1):35-42. PubMed ID: 12815591
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
    Moore SJ; Buckley DJ; MacMillan A; Marshall HD; Steele L; Ray PN; Nawaz Z; Baskin B; Frecker M; Carr SM; Ives E; Parfrey PS
    Clin Genet; 2008 Sep; 74(3):213-22. PubMed ID: 18684116
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis.
    Haines JL; Boustany RM; Alroy J; Auger KJ; Shook KS; Terwedow H; Lerner TJ
    Neurogenetics; 1998 Mar; 1(3):217-22. PubMed ID: 10737126
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
    Cannelli N; Garavaglia B; Simonati A; Aiello C; Barzaghi C; Pezzini F; Cilio MR; Biancheri R; Morbin M; Dalla Bernardina B; Granata T; Tessa A; Invernizzi F; Pessagno A; Boldrini R; Zibordi F; Grazian L; Claps D; Carrozzo R; Mole SE; Nardocci N; Santorelli FM
    Biochem Biophys Res Commun; 2009 Feb; 379(4):892-7. PubMed ID: 19135028
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL.
    Klockars T; Savukoski M; Isosomppi J; Peltonen L
    Mol Genet Metab; 1999 Apr; 66(4):324-8. PubMed ID: 10191122
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.