BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

113 related articles for article (PubMed ID: 30352868)

  • 1. Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to
    Murcia Pienkowski V; Kucharczyk M; Młynek M; Szczałuba K; Rydzanicz M; Poszewiecka B; Skórka A; Sykulski M; Biernacka A; Koppolu AA; Posmyk R; Walczak A; Kosińska J; Krajewski P; Castaneda J; Obersztyn E; Jurkiewicz E; Śmigiel R; Gambin A; Chrzanowska K; Krajewska-Walasek M; Płoski R
    J Med Genet; 2019 Feb; 56(2):104-112. PubMed ID: 30352868
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
    Aristidou C; Koufaris C; Theodosiou A; Bak M; Mehrjouy MM; Behjati F; Tanteles G; Christophidou-Anastasiadou V; Tommerup N; Sismani C
    PLoS One; 2017; 12(1):e0169935. PubMed ID: 28072833
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.
    Pesz K; Pienkowski VM; Pollak A; Gasperowicz P; Sykulski M; Kosińska J; Kiszko M; Krzykwa B; Bartnik-Głaska M; Nowakowska B; Rydzanicz M; Sasiadek MM; Płoski R
    Eur J Med Genet; 2018 Oct; 61(10):596-601. PubMed ID: 29621621
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
    Schluth-Bolard C; Diguet F; Chatron N; Rollat-Farnier PA; Bardel C; Afenjar A; Amblard F; Amiel J; Blesson S; Callier P; Capri Y; Collignon P; Cordier MP; Coubes C; Demeer B; Chaussenot A; Demurger F; Devillard F; Doco-Fenzy M; Dupont C; Dupont JM; Dupuis-Girod S; Faivre L; Gilbert-Dussardier B; Guerrot AM; Houlier M; Isidor B; Jaillard S; Joly-Hélas G; Kremer V; Lacombe D; Le Caignec C; Lebbar A; Lebrun M; Lesca G; Lespinasse J; Levy J; Malan V; Mathieu-Dramard M; Masson J; Masurel-Paulet A; Mignot C; Missirian C; Morice-Picard F; Moutton S; Nadeau G; Pebrel-Richard C; Odent S; Paquis-Flucklinger V; Pasquier L; Philip N; Plutino M; Pons L; Portnoï MF; Prieur F; Puechberty J; Putoux A; Rio M; Rooryck-Thambo C; Rossi M; Sarret C; Satre V; Siffroi JP; Till M; Touraine R; Toutain A; Toutain J; Valence S; Verloes A; Whalen S; Edery P; Tabet AC; Sanlaville D
    J Med Genet; 2019 Aug; 56(8):526-535. PubMed ID: 30923172
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations.
    Liang D; Wang Y; Ji X; Hu H; Zhang J; Meng L; Lin Y; Ma D; Jiang T; Jiang H; Asan ; Song L; Guo J; Hu P; Xu Z
    Clin Genet; 2017 Apr; 91(4):605-610. PubMed ID: 27491356
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Breakpoint Mapping of Symptomatic Balanced Translocations Links the
    Murcia Pienkowski V; Kucharczyk M; Rydzanicz M; Poszewiecka B; Pachota K; Młynek M; Stawiński P; Pollak A; Kosińska J; Wojciechowska K; Lejman M; Cieślikowska A; Wicher D; Stembalska A; Matuszewska K; Materna-Kiryluk A; Gambin A; Chrzanowska K; Krajewska-Walasek M; Płoski R
    J Clin Med; 2020 Apr; 9(5):. PubMed ID: 32344861
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing.
    Dutta UR; Rao SN; Pidugu VK; V S V; Bhattacherjee A; Bhowmik AD; Ramaswamy SK; Singh KG; Dalal A
    Genomics; 2019 Sep; 111(5):1108-1114. PubMed ID: 30006036
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Gene sequencing and result analysis of balanced translocation carriers by third-generation gene sequencing technology.
    Zeng X; Lin D; Liang D; Huang J; Yi J; Lin D; Zhang Z
    Sci Rep; 2023 Apr; 13(1):7004. PubMed ID: 37117255
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
    Nilsson D; Pettersson M; Gustavsson P; Förster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid BM; Nordgren A; Mäkitie O; Wirta V; Käller M; Vezzi F; Lupski JR; Nordenskjöld M; Lundberg ES; Carvalho CMB; Lindstrand A
    Hum Mutat; 2017 Feb; 38(2):180-192. PubMed ID: 27862604
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation.
    Zamariolli M; Di-Battista A; Moysés-Oliveira M; de Mello CB; de Paula Ramos MA; Liehr T; Melaragno MI
    Cytogenet Genome Res; 2020; 160(6):321-328. PubMed ID: 32535594
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.
    Dong Z; Ye L; Yang Z; Chen H; Yuan J; Wang H; Guo X; Li Y; Wang J; Chen F; Cheung SW; Morton CC; Jiang H; Choy KW
    Curr Protoc Hum Genet; 2018 Jan; 96():8.18.1-8.18.16. PubMed ID: 29364520
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.
    Baptista J; Mercer C; Prigmore E; Gribble SM; Carter NP; Maloney V; Thomas NS; Jacobs PA; Crolla JA
    Am J Hum Genet; 2008 Apr; 82(4):927-36. PubMed ID: 18371933
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
    Aristidou C; Theodosiou A; Bak M; Mehrjouy MM; Constantinou E; Alexandrou A; Papaevripidou I; Christophidou-Anastasiadou V; Skordis N; Kitsiou-Tzeli S; Tommerup N; Sismani C
    PLoS One; 2018; 13(10):e0205298. PubMed ID: 30289920
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Historical and Clinical Perspectives on Chromosomal Translocations.
    Wilch ES; Morton CC
    Adv Exp Med Biol; 2018; 1044():1-14. PubMed ID: 29956287
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.
    Schluth-Bolard C; Labalme A; Cordier MP; Till M; Nadeau G; Tevissen H; Lesca G; Boutry-Kryza N; Rossignol S; Rocas D; Dubruc E; Edery P; Sanlaville D
    J Med Genet; 2013 Mar; 50(3):144-50. PubMed ID: 23315544
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders.
    Yammine T; Reynaud N; Lejeune H; Diguet F; Rollat-Farnier PA; Labalme A; Plotton I; Farra C; Sanlaville D; Chouery E; Schluth-Bolard C
    Mol Hum Reprod; 2021 May; 27(6):. PubMed ID: 34009290
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.
    Ritter DI; Haines K; Cheung H; Davis CF; Lau CC; Berg JS; Brown CW; Thompson PA; Gibbs R; Wheeler DA; Plon SE
    Genet Med; 2015 Oct; 17(10):831-5. PubMed ID: 25569436
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.
    Hochstenbach R; van Binsbergen E; Schuring-Blom H; Buijs A; Ploos van Amstel HK
    Eur J Med Genet; 2019 Sep; 62(9):103543. PubMed ID: 30248410
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Balanced chromosome translocations and abnormal phenotypes. A report of 5 cases.
    van Heerden KM; de Jong G; Fox MF; Kotzé GM; Brusnický J; Dietzsch E; Grobbelaar JJ; Retief AE
    S Afr Med J; 1986 Jun; 69(13):825-7. PubMed ID: 3715666
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing.
    Suzuki T; Tsurusaki Y; Nakashima M; Miyake N; Saitsu H; Takeda S; Matsumoto N
    J Hum Genet; 2014 Dec; 59(12):649-54. PubMed ID: 25296578
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.