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 *

348 related articles for article (PubMed ID: 28072833)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.
    Aristidou C; Theodosiou A; Alexandrou A; Papaevripidou I; Evangelidou P; Kosmaidou-Aravidou Z; Behjati F; Christophidou-Anastasiadou V; Tanteles GA; Sismani C
    Genes (Basel); 2022 Dec; 14(1):. PubMed ID: 36672823
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.
    Luukkonen TM; Mehrjouy MM; Pöyhönen M; Anttonen AK; Lahermo P; Ellonen P; Paulin L; Tommerup N; Palotie A; Varilo T
    Mol Genet Genomic Med; 2018 Jan; 6(1):56-68. PubMed ID: 29168350
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
    Aristidou C; Theodosiou A; Ketoni A; Bak M; Mehrjouy MM; Tommerup N; Sismani C
    Mol Cytogenet; 2018; 11():34. PubMed ID: 29930709
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies.
    Tan YQ; Tan YQ; Cheng DH
    Mol Cytogenet; 2020; 13():15. PubMed ID: 32391085
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
    Peng Y; Yang S; Xi H; Hu J; Jia Z; Pang J; Liu J; Yu W; Tang C; Wang H
    Mol Genet Genomic Med; 2021 Mar; 9(3):e1604. PubMed ID: 33471964
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.
    Sismani C; Kitsiou-Tzeli S; Ioannides M; Christodoulou C; Anastasiadou V; Stylianidou G; Papadopoulou E; Kanavakis E; Kosmaidou-Aravidou Z; Patsalis PC
    Mol Cytogenet; 2008 Jul; 1():15. PubMed ID: 18644119
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
    De Gregori M; Ciccone R; Magini P; Pramparo T; Gimelli S; Messa J; Novara F; Vetro A; Rossi E; Maraschio P; Bonaglia MC; Anichini C; Ferrero GB; Silengo M; Fazzi E; Zatterale A; Fischetto R; Previderé C; Belli S; Turci A; Calabrese G; Bernardi F; Meneghelli E; Riegel M; Rocchi M; Guerneri S; Lalatta F; Zelante L; Romano C; Fichera M; Mattina T; Arrigo G; Zollino M; Giglio S; Lonardo F; Bonfante A; Ferlini A; Cifuentes F; Van Esch H; Backx L; Schinzel A; Vermeesch JR; Zuffardi O
    J Med Genet; 2007 Dec; 44(12):750-62. PubMed ID: 17766364
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.
    Toraman B; Bilginer SÇ; Hesapçıoğlu ST; Göker Z; Soykam HO; Ergüner B; Dinçer T; Yıldız G; Ünsal S; Kasap BK; Kandil S; Kalay E
    J Gene Med; 2021 Apr; 23(4):e3322. PubMed ID: 33591602
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.
    Sobreira NL; Gnanakkan V; Walsh M; Marosy B; Wohler E; Thomas G; Hoover-Fong JE; Hamosh A; Wheelan SJ; Valle D
    Genome Res; 2011 Oct; 21(10):1720-7. PubMed ID: 21890680
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.
    Gribble SM; Prigmore E; Burford DC; Porter KM; Ng BL; Douglas EJ; Fiegler H; Carr P; Kalaitzopoulos D; Clegg S; Sandstrom R; Temple IK; Youings SA; Thomas NS; Dennis NR; Jacobs PA; Crolla JA; Carter NP
    J Med Genet; 2005 Jan; 42(1):8-16. PubMed ID: 15635069
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.