BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

49 related articles for article (PubMed ID: 12124996)

  • 1. I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?
    Aldea A; Casademont J; Aróstegui JI; Rius J; Masó M; Vives J; Yagüe J
    Hum Mutat; 2002 Aug; 20(2):148-50. PubMed ID: 12124996
    [No Abstract]   [Full Text] [Related]  

  • 2. Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
    Miltiadous G; Elisaf M; Xenophontos S; Manoli P; Cariolou MA
    Hum Mutat; 2000 Sep; 16(3):277. PubMed ID: 10980548
    [No Abstract]   [Full Text] [Related]  

  • 3. Transthyretin Ile84Thr is associated with familial amyloid polyneuropathy.
    Booth DR; Stangou A; Williams RS; Gillmore JD; Tennent GA; Hawkins PN
    Hum Mutat; 2000 Nov; 16(5):447. PubMed ID: 11058909
    [No Abstract]   [Full Text] [Related]  

  • 4. Y688X, the first nonsense mutation in familial Mediterranean fever (FMF).
    Notarnicola C; Manna R; Rey JM; Touitou I
    Hum Mutat; 2001; 17(1):79. PubMed ID: 11139259
    [No Abstract]   [Full Text] [Related]  

  • 5. Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation.
    Kümpfel T; Hoffmann LA; Rübsamen H; Pöllmann W; Feneberg W; Hohlfeld R; Lohse P
    Arthritis Rheum; 2007 Aug; 56(8):2774-83. PubMed ID: 17665448
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The role of MEFV gene mutations in Multiple Sclerosis susceptibility.
    Zahednasab H; Saadatnia M; Jabalameli MR; Bahreini SA
    J Neurol Sci; 2010 Nov; 298(1-2):163; author reply 163-4. PubMed ID: 20828766
    [No Abstract]   [Full Text] [Related]  

  • 7. [Familial Mediterranean Fever (FMF): from diagnosis to treatment].
    Medlej-Hashim M; Loiselet J; Lefranc G; Mégarbané A
    Sante; 2004; 14(4):261-6. PubMed ID: 15745878
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.
    Mazzeo A; Muglia M; Rodolico C; Toscano A; Patitucci A; Quattrone A; Messina C; Vita G
    Acta Neurol Scand; 2008 Nov; 118(5):328-32. PubMed ID: 18422810
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Five novel genetic variants in the promoter and coding region of the alpha B-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L.
    Hahner A; Erdmann J; Kallisch H; Fleck E; Regitz-Zagrosek V
    Hum Mutat; 2000 Oct; 16(4):374. PubMed ID: 11013455
    [No Abstract]   [Full Text] [Related]  

  • 10. New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
    Floroskufi P; Panas M; Karadima G; Vassilopoulos D
    Muscle Nerve; 2007 May; 35(5):667-9. PubMed ID: 17143884
    [TBL] [Abstract][Full Text] [Related]  

  • 11. G12S and H50R variations are polymorphisms in the SDHD gene.
    Cascón A; Ruiz-Llorente S; Cebrián A; Letón R; Tellería D; Benítez J; Robledo M
    Genes Chromosomes Cancer; 2003 Jun; 37(2):220-1. PubMed ID: 12696072
    [No Abstract]   [Full Text] [Related]  

  • 12. Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
    Stojanov S; Lohse P; Lohse P; Hoffmann F; Renner ED; Zellerer S; Kéry A; Shin YS; Haas D; Hoffmann GF; Belohradsky BH
    Arthritis Rheum; 2004 Jun; 50(6):1951-8. PubMed ID: 15188372
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutations and SNPs identified in CCR2 using a new comprehensive denaturing gradient gel electrophoresis assay.
    Petersen DC; Laten A; Zeier MD; Grimwood A; Rensburg EJ; Hayes VM
    Hum Mutat; 2002 Oct; 20(4):253-9. PubMed ID: 12325020
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Study of a Spanish family with familial Mediterranean fever].
    Siso C; Vinyes-M A; Badrinas F; Carrera M
    Rev Clin Esp; 1977 Feb; 144(4):297-9. PubMed ID: 847266
    [No Abstract]   [Full Text] [Related]  

  • 15. A novel variant of human lysozyme (T70N) is common in the normal population.
    Booth DR; Pepys MB; Hawkins PN
    Hum Mutat; 2000 Aug; 16(2):180. PubMed ID: 10923049
    [No Abstract]   [Full Text] [Related]  

  • 16. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
    Migliosi V; Modamio-Høybjør S; Moreno-Pelayo MA; Rodríguez-Ballesteros M; Villamar M; Tellería D; Menéndez I; Moreno F; Del Castillo I
    J Med Genet; 2002 Jul; 39(7):502-6. PubMed ID: 12114484
    [No Abstract]   [Full Text] [Related]  

  • 17. [Influence of heterozygosity on the variation of anthropometric traits in newborns].
    Dubrova IuE; Dambueva IK; Kholod ON; Prokhorovskaia VD; Pushkina EI; Blank ML
    Genetika; 1991 Dec; 27(12):2157-65. PubMed ID: 1802796
    [No Abstract]   [Full Text] [Related]  

  • 18. [Fibrinogen variation: a heterozygote dysfibrinogenemia with Arg-->His substitution in position 16 of the Aalpha chain].
    Seydewitz HH; Gram J; Bruhn HD; Witt I
    Hamostaseologie; 2002 May; 22(2):7-10. PubMed ID: 12193970
    [No Abstract]   [Full Text] [Related]  

  • 19. Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H.
    Teare MD; Cox A; Shorto J; Anderson C; Bishop DT; Cannings C
    J Med Genet; 2004 Jul; 41(7):523-8. PubMed ID: 15235023
    [No Abstract]   [Full Text] [Related]  

  • 20. [A case of silent cholinesterasic variant].
    Vidal Martínez J; Moral Baltuille A; Perales Tortosa G; Casas Terrón E; Moreno Monedero MJ; Acevedo León D; Gil Minguillón C
    Rev Esp Anestesiol Reanim; 1990; 37(2):110-1. PubMed ID: 2339207
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 3.