BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 17726696)

  • 1. The novel human SHOX allelic variant database.
    Niesler B; Röth R; Wilke S; Fujimura F; Fischer C; Rappold G
    Hum Mutat; 2007 Oct; 28(10):933-8. PubMed ID: 17726696
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The human SHOX mutation database.
    Niesler B; Fischer C; Rappold GA
    Hum Mutat; 2002 Nov; 20(5):338-41. PubMed ID: 12402330
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The human FOXL2 mutation database.
    Beysen D; Vandesompele J; Messiaen L; De Paepe A; De Baere E
    Hum Mutat; 2004 Sep; 24(3):189-93. PubMed ID: 15300845
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software.
    Zaimidou S; van Baal S; Smith TD; Mitropoulos K; Ljujic M; Radojkovic D; Cotton RG; Patrinos GP
    Hum Mutat; 2009 Mar; 30(3):308-13. PubMed ID: 19021233
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies.
    Tan EC; Loh M; Chuon D; Lim YP
    Hum Mutat; 2006 Mar; 27(3):232-5. PubMed ID: 16429432
    [TBL] [Abstract][Full Text] [Related]  

  • 6. NPC-db, a Niemann-Pick type C disease gene variation database.
    Runz H; Dolle D; Schlitter AM; Zschocke J
    Hum Mutat; 2008 Mar; 29(3):345-50. PubMed ID: 18081003
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
    Calderon FR; Phansalkar AR; Crockett DK; Miller M; Mao R
    Hum Mutat; 2007 Oct; 28(10):939-43. PubMed ID: 17486650
    [TBL] [Abstract][Full Text] [Related]  

  • 8. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
    Jorge AA; Souza SC; Nishi MY; Billerbeck AE; Libório DC; Kim CA; Arnhold IJ; Mendonca BB
    Clin Endocrinol (Oxf); 2007 Jan; 66(1):130-5. PubMed ID: 17201812
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Human Gene Mutation Database (HGMD): 2003 update.
    Stenson PD; Ball EV; Mort M; Phillips AD; Shiel JA; Thomas NS; Abeysinghe S; Krawczak M; Cooper DN
    Hum Mutat; 2003 Jun; 21(6):577-81. PubMed ID: 12754702
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human gene mutation database-a biomedical information and research resource.
    Krawczak M; Ball EV; Fenton I; Stenson PD; Abeysinghe S; Thomas N; Cooper DN
    Hum Mutat; 2000; 15(1):45-51. PubMed ID: 10612821
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease.
    Gout AM; Martin NC; Brown AF; Ravine D
    Hum Mutat; 2007 Jul; 28(7):654-9. PubMed ID: 17370309
    [TBL] [Abstract][Full Text] [Related]  

  • 12. HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene.
    Kalmár L; Hegedüs T; Farkas H; Nagy M; Tordai A
    Hum Mutat; 2005 Jan; 25(1):1-5. PubMed ID: 15580551
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Thailand mutation and variation database (ThaiMUT).
    Ruangrit U; Srikummool M; Assawamakin A; Ngamphiw C; Chuechote S; Thaiprasarnsup V; Agavatpanitch G; Pasomsab E; Yenchitsomanus PT; Mahasirimongkol S; Chantratita W; Palittapongarnpim P; Uyyanonvara B; Limwongse C; Tongsima S
    Hum Mutat; 2008 Aug; 29(8):E68-75. PubMed ID: 18484585
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database.
    Zlotogora J; van Baal S; Patrinos GP
    Hum Mutat; 2007 Oct; 28(10):944-9. PubMed ID: 17492749
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.
    Schneider KU; Marchini A; Sabherwal N; Röth R; Niesler B; Marttila T; Blaschke RJ; Lawson M; Dumic M; Rappold G
    Hum Mutat; 2005 Jul; 26(1):44-52. PubMed ID: 15931687
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SNPeffect: a database mapping molecular phenotypic effects of human non-synonymous coding SNPs.
    Reumers J; Schymkowitz J; Ferkinghoff-Borg J; Stricher F; Serrano L; Rousseau F
    Nucleic Acids Res; 2005 Jan; 33(Database issue):D527-32. PubMed ID: 15608254
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.
    Oliveira J; Dias C; Redeker E; Costa E; Silva J; Reis Lima M; den Dunnen JT; Santos R
    Hum Mutat; 2010 Nov; 31(11):1216-22. PubMed ID: 20824775
    [TBL] [Abstract][Full Text] [Related]  

  • 18. UMD (Universal Mutation Database): 2005 update.
    Béroud C; Hamroun D; Collod-Béroud G; Boileau C; Soussi T; Claustres M
    Hum Mutat; 2005 Sep; 26(3):184-91. PubMed ID: 16086365
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
    Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson A; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson NO; Elfving M; Ellis I; Anderlid BM; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski JP
    Hum Genet; 2001 Nov; 109(5):551-8. PubMed ID: 11735031
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The human TBX5 gene mutation database.
    Heinritz W; Shou L; Moschik A; Froster UG
    Hum Mutat; 2005 Oct; 26(4):397. PubMed ID: 16134140
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.