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 *

81 related articles for article (PubMed ID: 18771425)

  • 21. A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity.
    Dittmar M; Bischofs C; Matheis N; Poppe R; Kahaly GJ
    J Autoimmun; 2009 Feb; 32(1):7-13. PubMed ID: 19022625
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The Aalpha-chain 6Ile/Val polymorphism is not associated with plasma fibrinogen levels in Japanese.
    Terasawa F; Hirota-Kawadobora M; Kobayashi H; Saito H; Tozuka M; Okumura N
    Thromb Res; 2003; 112(4):257-9. PubMed ID: 14987921
    [No Abstract]   [Full Text] [Related]  

  • 23. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
    Vega AI; Pérez-Cerdá C; Desviat LR; Matthijs G; Ugarte M; Pérez B
    Hum Mutat; 2009 May; 30(5):795-803. PubMed ID: 19235233
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen.
    Kotlín R; Reicheltová Z; Malý M; Suttnar J; Sobotková A; Salaj P; Hirmerová J; Riedel T; Dyr JE
    Thromb Haemost; 2009 Sep; 102(3):479-86. PubMed ID: 19718467
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Fibrinogen Nottingham II: a novel Bbeta Arg264gly substitution causing hypofibrinogenaemia.
    Hill MB; Brennan SO; Dear A; Strong J; Nejim T; Dolan G
    Thromb Haemost; 2006 Sep; 96(3):378-80. PubMed ID: 16953282
    [No Abstract]   [Full Text] [Related]  

  • 26. Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations.
    Castaman G; Giacomelli SH; Duga S; Rodeghiero F
    Haemophilia; 2008 May; 14(3):630-3. PubMed ID: 18393984
    [No Abstract]   [Full Text] [Related]  

  • 27. [Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].
    Tang H; Hao H; Tang SH; Chen X; Liu F; Cha QB; Li YQ; Li HJ; Sun L; Yu M; Xiao X; Zhou TH
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Feb; 26(1):62-5. PubMed ID: 19199254
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Three cases of abnormal fibrinogens: sumperk (Bbeta His67Leu), Unicov (Bbeta Gly414Ser), and Brno (gammaArg275His).
    Kotlín R; Reicheltová Z; Sobotková A; Suttnar J; Salaj P; Pospísilová D; Smejkal P; Chrastinová L; Dyr JE
    Thromb Haemost; 2008 Dec; 100(6):1199-200. PubMed ID: 19132250
    [No Abstract]   [Full Text] [Related]  

  • 29. A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia.
    Farooq M; Kurban M; Abbas O; Obeidat O; Fujikawa H; Kibbi AG; Fujimoto A; Shimomura Y
    Br J Dermatol; 2012 Oct; 167(4):946-9. PubMed ID: 22458588
    [No Abstract]   [Full Text] [Related]  

  • 30. Mutation screening of entire keratin 5 and keratin 14 genes and identification of a novel mutation in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.
    Yuan H; Liu F; Xiao B; He Y; Liang Y; Liu J
    J Eur Acad Dermatol Venereol; 2008 Dec; 22(12):1510-2. PubMed ID: 18384561
    [No Abstract]   [Full Text] [Related]  

  • 31. Rare inherited disorders of fibrinogen.
    Acharya SS; Dimichele DM
    Haemophilia; 2008 Nov; 14(6):1151-8. PubMed ID: 19141154
    [TBL] [Abstract][Full Text] [Related]  

  • 32. An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.
    Bhuiyan ZA; Momenah TS; Amin AS; Al-Khadra AS; Alders M; Wilde AA; Mannens MM
    Prog Biophys Mol Biol; 2008; 98(2-3):319-27. PubMed ID: 19027783
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Variants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac disease.
    Vidal C; Borg J; Xuereb-Anastasi A; Scerri CA
    Tissue Antigens; 2009 Mar; 73(3):225-35. PubMed ID: 19254252
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Two frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria.
    Liu Y; Xiao SX; Peng ZH; Lei XB; Wang JM; Li Y; Li XL
    Br J Dermatol; 2006 Aug; 155(2):473-6. PubMed ID: 16882194
    [No Abstract]   [Full Text] [Related]  

  • 35. Novel human pathological mutations. Gene symbol: RHD. Disease: reduced expression (weak D).
    Pereira J; Rodrigues MJ; Chabert T; Ribeiro ML
    Hum Genet; 2009 Apr; 125(3):341. PubMed ID: 19320009
    [No Abstract]   [Full Text] [Related]  

  • 36. A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis.
    Robert-Ebadi H; Le Querrec A; de Moerloose P; Gandon-Laloum S; Borel Derlon A; Neerman-Arbez M
    Blood Coagul Fibrinolysis; 2008 Oct; 19(7):697-9. PubMed ID: 18832913
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
    Kollberg G; Tulinius M; Melberg A; Darin N; Andersen O; Holmgren D; Oldfors A; Holme E
    Brain; 2009 Aug; 132(Pt 8):2170-9. PubMed ID: 19567699
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Fibrinogen Foxton: a novel BbetaA277V mutation causing low normal plasma fibrinogen concentration.
    Davis RL; Baker B; Brennan SO
    Thromb Haemost; 2008 Oct; 100(4):708-10. PubMed ID: 18841297
    [No Abstract]   [Full Text] [Related]  

  • 39. Demonstration of heterodimeric fibrinogen molecules partially conjugated with albumin in a novel dysfibrinogen: fibrinogen Mannheim V.
    Dempfle CE; George PM; Borggrefe M; Neumaier M; Brennan SO
    Thromb Haemost; 2009 Jul; 102(1):29-34. PubMed ID: 19572064
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
    Besana V; Di Pierro E; Brancaleoni V; Sabrina A; Fiocchi M; Cappellini MD
    Hum Genet; 2009 Apr; 125(3):344. PubMed ID: 19320020
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.