BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 18644119)

  • 1. 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]  

  • 2. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
    Schluth-Bolard C; Delobel B; Sanlaville D; Boute O; Cuisset JM; Sukno S; Labalme A; Duban-Bedu B; Plessis G; Jaillard S; Dubourg C; Henry C; Lucas J; Odent S; Pasquier L; Copin H; Latour P; Cordier MP; Nadeau G; Till M; Edery P; Andrieux J
    Eur J Med Genet; 2009; 52(5):291-6. PubMed ID: 19505601
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
    Tabet AC; Verloes A; Pilorge M; Delaby E; Delorme R; Nygren G; Devillard F; Gérard M; Passemard S; Héron D; Siffroi JP; Jacquette A; Delahaye A; Perrin L; Dupont C; Aboura A; Bitoun P; Coleman M; Leboyer M; Gillberg C; Benzacken B; Betancur C
    Mol Autism; 2015; 6():19. PubMed ID: 25844147
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
    Gijsbers AC; Bosch CA; Dauwerse JG; Giromus O; Hansson K; Hilhorst-Hofstee Y; Kriek M; van Haeringen A; Bijlsma EK; Bakker E; Breuning MH; Ruivenkamp CA
    Eur J Med Genet; 2010; 53(5):227-33. PubMed ID: 20542150
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.
    Satkin NB; Karaman B; Ergin S; Kayserili H; Kalelioglu IH; Has R; Yuksel A; Basaran S
    Balkan J Med Genet; 2020 Nov; 23(2):25-34. PubMed ID: 33816069
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.
    Chen CP; Chern SR; Lee CC; Lin CC; Li YC; Hsieh LJ; Chen WL; Wang W
    Prenat Diagn; 2006 Feb; 26(2):138-46. PubMed ID: 16470734
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case.
    Simioni M; Steiner CE; Gil-da-Silva-Lopes VL
    Gene; 2015 Nov; 573(1):166-70. PubMed ID: 26318482
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosomes.
    Chen CP; Chen M; Ma GC; Su YN; Ko TM; Lin YH; Wang W
    J Chin Med Assoc; 2013 Jan; 76(1):53-6. PubMed ID: 23331783
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
    Feenstra I; Hanemaaijer N; Sikkema-Raddatz B; Yntema H; Dijkhuizen T; Lugtenberg D; Verheij J; Green A; Hordijk R; Reardon W; Vries Bd; Brunner H; Bongers E; Leeuw Nd; van Ravenswaaij-Arts C
    Eur J Hum Genet; 2011 Nov; 19(11):1152-60. PubMed ID: 21712853
    [TBL] [Abstract][Full Text] [Related]  

  • 15. De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.
    Goumy C; Mihaescu M; Tchirkov A; Giollant M; Benier C; Francannet C; Jaffray JY; Geneix A; Vago P
    Genet Couns; 2006; 17(3):371-9. PubMed ID: 17100206
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
    Fonseca AC; Bonaldi A; Bertola DR; Kim CA; Otto PA; Vianna-Morgante AM
    BMC Med Genet; 2013 May; 14():50. PubMed ID: 23648064
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect.
    Yamada M; Suzuki H; Miya F; Takenouchi T; Kosaki K
    Am J Med Genet A; 2022 Aug; 188(8):2472-2478. PubMed ID: 35567499
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).
    Jiang YH; Martinez JE; Ou Z; Cooper ML; Kang SH; Pursley A; Cheung SW
    Am J Med Genet A; 2008 Aug; 146A(15):1986-93. PubMed ID: 18627051
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.
    Baptista J; Prigmore E; Gribble SM; Jacobs PA; Carter NP; Crolla JA
    Eur J Hum Genet; 2005 Nov; 13(11):1205-12. PubMed ID: 16118644
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.