BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

106 related articles for article (PubMed ID: 25715982)

  • 1. Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing.
    Ristolainen H; Kilpivaara O; Kamper P; Taskinen M; Saarinen S; Leppä S; d'Amore F; Aaltonen LA
    Br J Haematol; 2015 Aug; 170(3):428-31. PubMed ID: 25715982
    [No Abstract]   [Full Text] [Related]  

  • 2. The Mutation of CD27 Deficiency Presented With Familial Hodgkin Lymphoma and a Review of the Literature.
    Köse D; Güzelçiçek A; Öz Ö; Erdem AY; Haliloğlu Y; Witzel M; Klein C; Ünal E
    J Pediatr Hematol Oncol; 2022 May; 44(4):e833-e843. PubMed ID: 35398861
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene.
    Rotunno M; McMaster ML; Boland J; Bass S; Zhang X; Burdett L; Hicks B; Ravichandran S; Luke BT; Yeager M; Fontaine L; Hyland PL; Goldstein AM; ; ; Chanock SJ; Caporaso NE; Tucker MA; Goldin LR
    Haematologica; 2016 Jul; 101(7):853-60. PubMed ID: 27365461
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma.
    Saarinen S; Aavikko M; Aittomäki K; Launonen V; Lehtonen R; Franssila K; Lehtonen HJ; Kaasinen E; Broderick P; Tarkkanen J; Bain BJ; Bauduer F; Ünal A; Swerdlow AJ; Cooke R; Mäkinen MJ; Houlston R; Vahteristo P; Aaltonen LA
    Blood; 2011 Jul; 118(3):493-8. PubMed ID: 21562039
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Constitutional mismatch repair-deficiency and whole-exome sequencing as the means of the rapid detection of the causative MSH6 defect.
    Hoell JI; Gombert M; Ginzel S; Loth S; Landgraf P; Käfer V; Streiter M; Prokop A; Weiss M; Thiele R; Borkhardt A
    Klin Padiatr; 2014 Nov; 226(6-7):357-61. PubMed ID: 25431869
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of candidate tumour suppressor gene loci for Hodgkin and Reed-Sternberg cells by characterisation of homozygous deletions in classical Hodgkin lymphoma cell lines.
    Giefing M; Arnemann J; Martin-Subero JI; Nieländer I; Bug S; Hartmann S; Arnold N; Tiacci E; Frank M; Hansmann ML; Küppers R; Siebert R
    Br J Haematol; 2008 Sep; 142(6):916-24. PubMed ID: 18671701
    [TBL] [Abstract][Full Text] [Related]  

  • 7. High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.
    Stavber L; Hovnik T; Kotnik P; Lovrečić L; Kovač J; Tesovnik T; Bertok S; Dovč K; Debeljak M; Battelino T; Avbelj Stefanija M
    Eur J Endocrinol; 2020 Mar; 182(3):243-253. PubMed ID: 31841439
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The mutational landscape of Hodgkin lymphoma cell lines determined by whole-exome sequencing.
    Liu Y; Abdul Razak FR; Terpstra M; Chan FC; Saber A; Nijland M; van Imhoff G; Visser L; Gascoyne R; Steidl C; Kluiver J; Diepstra A; Kok K; van den Berg A
    Leukemia; 2014 Nov; 28(11):2248-51. PubMed ID: 24947018
    [No Abstract]   [Full Text] [Related]  

  • 9. Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.
    Cavanagh JA; Tammen I; Windsor PA; Bateman JF; Savarirayan R; Nicholas FW; Raadsma HW
    Mamm Genome; 2007 Nov; 18(11):808-14. PubMed ID: 17952705
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pseudoautosomal linkage of familial Hodgkin's lymphoma: molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma.
    Shears DJ; Endris V; Gokhale DA; Dearden SP; Radford JA; Rappold GA; Taylor GM
    Br J Haematol; 2003 Apr; 121(2):377-9. PubMed ID: 12694264
    [No Abstract]   [Full Text] [Related]  

  • 11. Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
    Schuster J; Khan TN; Tariq M; Shaiq PA; Mäbert K; Baig SM; Klar J
    BMC Med Genet; 2014 Jun; 15():71. PubMed ID: 24961962
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
    Quintos JB; Guo MH; Dauber A
    J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):927-32. PubMed ID: 25741789
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations.
    Wei M; Ying Y; Li Z; Weng Y; Luo X
    Mol Genet Genomic Med; 2021 Nov; 9(11):e1823. PubMed ID: 34605228
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.
    Sun LY; Zhang YB; Jiang L; Wan N; Wu WF; Pan XD; Yu J; Zhang F; Wang LY
    Sci Rep; 2015 Jun; 5():11380. PubMed ID: 26077743
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan.
    Struck AK; Dierks C; Braun M; Hellige M; Wagner A; Oelmaier B; Beineke A; Metzger J; Distl O
    BMC Genet; 2018 Oct; 19(1):91. PubMed ID: 30305023
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
    Hauer NN; Sticht H; Boppudi S; Büttner C; Kraus C; Trautmann U; Zenker M; Zweier C; Wiesener A; Jamra RA; Wieczorek D; Kelkel J; Jung AM; Uebe S; Ekici AB; Rohrer T; Reis A; Dörr HG; Thiel CT
    Sci Rep; 2017 Sep; 7(1):12225. PubMed ID: 28939912
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.
    Sanna-Cherchi S; Burgess KE; Nees SN; Caridi G; Weng PL; Dagnino M; Bodria M; Carrea A; Allegretta MA; Kim HR; Perry BJ; Gigante M; Clark LN; Kisselev S; Cusi D; Gesualdo L; Allegri L; Scolari F; D'Agati V; Shapiro LS; Pecoraro C; Palomero T; Ghiggeri GM; Gharavi AG
    Kidney Int; 2011 Aug; 80(4):389-96. PubMed ID: 21697813
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy.
    Farhan SM; Robinson JF; McIntyre AD; Marrosu MG; Ticca AF; Loddo S; Carboni N; Brancati F; Hegele RA
    Can J Cardiol; 2014 Dec; 30(12):1649-54. PubMed ID: 25475467
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.
    Daoud H; Papadima EM; Ouled Amar Bencheikh B; Katsila T; Dionne-Laporte A; Spiegelman D; Dion PA; Patrinos GP; Orrù S; Rouleau GA
    Eur J Med Genet; 2015 Nov; 58(11):573-7. PubMed ID: 26260707
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel pathogenic ACAN variants in non-syndromic short stature patients.
    Hu X; Gui B; Su J; Li H; Li N; Yu T; Zhang Q; Xu Y; Li G; Chen Y; Qing Y; ; Li C; Luo J; Fan X; Ding Y; Li J; Wang J; Wang X; Chen S; Shen Y
    Clin Chim Acta; 2017 Jun; 469():126-129. PubMed ID: 28396070
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.