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 *

116 related articles for article (PubMed ID: 37192522)

  • 1. Tandem and inverted duplications in haemophilia A: Breakpoint characterisation provides insight into possible rearrangement mechanisms.
    Li Y; Ding B; Mao Y; Zhang H; Wang X; Ding Q
    Haemophilia; 2023 Jul; 29(4):1121-1134. PubMed ID: 37192522
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.
    Kohmoto T; Okamoto N; Naruto T; Murata C; Ouchi Y; Fujita N; Inagaki H; Satomura S; Okamoto N; Saito M; Masuda K; Kurahashi H; Imoto I
    Mol Cytogenet; 2017; 10():15. PubMed ID: 28465723
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.
    Jourdy Y; Bardel C; Fretigny M; Diguet F; Rollat-Farnier PA; Mathieu ML; Labalme A; Sanlaville D; Edery P; Vinciguerra C; Schluth-Bolard C
    Haemophilia; 2022 Jan; 28(1):117-124. PubMed ID: 34480810
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Fold-back mechanism originating inv-dup-del rearrangements in chromosomes 13 and 15.
    Burssed B; Zamariolli M; Favilla BP; Meloni VA; Goloni-Bertollo EM; Bellucco FT; Melaragno MI
    Chromosome Res; 2023 Feb; 31(1):10. PubMed ID: 36826604
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
    Carvalho CM; Ramocki MB; Pehlivan D; Franco LM; Gonzaga-Jauregui C; Fang P; McCall A; Pivnick EK; Hines-Dowell S; Seaver LH; Friehling L; Lee S; Smith R; Del Gaudio D; Withers M; Liu P; Cheung SW; Belmont JW; Zoghbi HY; Hastings PJ; Lupski JR
    Nat Genet; 2011 Oct; 43(11):1074-81. PubMed ID: 21964572
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of two large duplications of F9 associated with mild and severe haemophilia B, respectively.
    Xie X; Chen C; Liang Q; Wu X; Wang X; Wu W; Ding Q
    Haemophilia; 2019 May; 25(3):475-483. PubMed ID: 30866119
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing.
    Xu Y; Wang H; Xiao B; Wei W; Liu Y; Ye H; Ying X; Chen Y; Liu X; Ji X; Sun Y
    Gene; 2018 Mar; 645():113-118. PubMed ID: 29273555
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Large inverted duplications in the human genome form via a fold-back mechanism.
    Hermetz KE; Newman S; Conneely KN; Martin CL; Ballif BC; Shaffer LG; Cody JD; Rudd MK
    PLoS Genet; 2014 Jan; 10(1):e1004139. PubMed ID: 24497845
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular characterization of inv dup del(8p): analysis of five cases.
    Shimokawa O; Kurosawa K; Ida T; Harada N; Kondoh T; Miyake N; Yoshiura K; Kishino T; Ohta T; Niikawa N; Matsumoto N
    Am J Med Genet A; 2004 Jul; 128A(2):133-7. PubMed ID: 15214003
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification and characterisation of a novel aberrant pattern of intron 1 inversion with concomitant large insertion and deletion within the F8 gene.
    You G; Chi K; Lu Y; Ding Q; Dai J; Xi X; Wang H; Wang X
    Thromb Haemost; 2014 Aug; 112(2):264-70. PubMed ID: 24696066
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique.
    You GL; Ding QL; Lu YL; Dai J; Xi XD; Wang XF; Wang HL
    J Thromb Haemost; 2013 Jun; 11(6):1103-10. PubMed ID: 23551875
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.
    Bonaglia MC; Giorda R; Massagli A; Galluzzi R; Ciccone R; Zuffardi O
    Eur J Hum Genet; 2009 Feb; 17(2):179-86. PubMed ID: 18813332
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.
    Kato T; Inagaki H; Miyai S; Suzuki F; Naru Y; Shinkai Y; Kato A; Kanyama K; Mizuno S; Muramatsu Y; Yamamoto T; Shinya M; Tazaki Y; Hiwatashi S; Ikeda T; Ozaki M; Kurahashi H
    Hum Genet; 2020 Nov; 139(11):1417-1427. PubMed ID: 32488466
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.
    Newman S; Hermetz KE; Weckselblatt B; Rudd MK
    Am J Hum Genet; 2015 Feb; 96(2):208-20. PubMed ID: 25640679
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
    Beck CR; Carvalho CM; Banser L; Gambin T; Stubbolo D; Yuan B; Sperle K; McCahan SM; Henneke M; Seeman P; Garbern JY; Hobson GM; Lupski JR
    PLoS Genet; 2015 Mar; 11(3):e1005050. PubMed ID: 25749076
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A.
    Lannoy N; Bandelier C; Grisart B; Reginster M; Ronge-Collard E; Vikkula M; Hermans C
    Haemophilia; 2015 Jul; 21(4):516-22. PubMed ID: 25962585
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres.
    Daniel A; St Heaps L; Sylvester D; Diaz S; Peters G
    Cell Chromosome; 2008 Mar; 7():1. PubMed ID: 18331649
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6.
    Jourdy Y; Chatron N; Fretigny M; Dericquebourg A; Sanlaville D; Vinciguerra C
    J Thromb Haemost; 2022 Oct; 20(10):2293-2305. PubMed ID: 35894111
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern.
    Yanagishita T; Imaizumi T; Yamamoto-Shimojima K; Yano T; Okamoto N; Nagata S; Yamamoto T
    Hum Mutat; 2020 Dec; 41(12):2119-2127. PubMed ID: 32906213
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.
    Ishmukhametova A; Chen JM; Bernard R; de Massy B; Baudat F; Boyer A; Méchin D; Thorel D; Chabrol B; Vincent MC; Khau Van Kien P; Claustres M; Tuffery-Giraud S
    Hum Mutat; 2013 Aug; 34(8):1080-4. PubMed ID: 23649991
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.