ChromosOmics - Database


Icon by Leon Liehr              


                                                             - REFERENCES -                                                         

      0. Liehr et al. unpublished data/ see also here
  1. Liehr T.
    Benign & Pathological Chromosomal Imbalances, Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling.
    Academic Press. 2012
  2. Weise A, Starke H, Mrasek K, Claussen U, Liehr T.
    New insights into the evolution of chromosome 1.
    Cytogenet Genome Res. 2005;108(1-3):217-22.
  3. Luo Y, Xu C, Sun Y, Wang L, Chen S, Jin F.
    Different segregation patterns in five carriers due to a pericentric inversion of chromosome 1.
    Syst Biol Reprod Med. 2014 Dec;60(6):367-72.
  4. McKinlay Gardner RJMcK, Sutherland GR.
    Chromosome Abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics Book 46)
    Oxford University Press, New York,     (3rd Edition) 2003
  5. I Fickelscher, T Liehr, K Watts, V Bryant, JCK Barber, R Siebert, S Heidemann, JM Hertz, Z Tümer, NS Thomas.
    The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.
    Am J Hum Gen 2007, 81:847-856.
  6. Sismani C, Rapti SM, Iliopoulou P, Spring A, Neroutsou R, Lagou M, Robola M, Tsitsopoulos E, Kousoulidou L, Alexandrou A, Papaevripidou I, Theodosiou A, Syrrou M, Fuchs S, Hempel M, Huhle D, Liehr T, Ziegler M, Duesberg M, Velissariou V.
    Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.
    J Hum Genet. 2020 Sep;65(9):783-795.
  7. Collinson MN, Fisher AM, Walker J, Currie J, Williams L, Roberts P.
    Inv(10)(p11.2q21.2), a variant chromosome.
    Hum Genet. 1997 Dec;101(2):175-80.
  8. Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM, Thomas NS.
    Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
    Am J Hum Genet. 2006 May;78(5):878-883.
  9. Zhang X, Shi Q, Liu Y, Jiang Y, Yang X, Liu R, Zhang H.
    Fertility problems in males carrying an inversion of chromosome 10.
    Open Med (Wars). 2021 Feb 18;16(1):316-321.
  10. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB.
    The phenotype of recurrent 10q22q23 deletions and duplications.
    Eur J Hum Genet. 2011 Apr;19(4):400-8.
  11. Liehr T, Kosayakova N, Schröder J, Ziegler M, Kreskowski K, Pohle B, Bhatt S, Theuss L, Wilhelm K, Weise A, Mrasek K.
    Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements.
    Balk J Med Genet 2011, 14:13-16.
  12. Seixas J, Padutsch N, Kankel S, Liehr T, Sy A.
    Molecular cytogenetic characterization of rare but repeatedly observed inversions in German population.
    Cytogenet Genome Res. 2024;164(2):78-84.
  13. Fontes ALT, Padutsch N, Kankel S, Liehr T.
    Molecular cytogenetic characterization of rare, but repeatedly observed translocations.
    OBM Genetics 2024, 8:240.
  14. Chien CW, Chao AS, Chang YL, Chen KJ, Peng HH, Lin YT, Chao A, Chang SD.
    Frequency and clinical significance of chromosomal inversions prenatally diagnosed by second trimester amniocentesis.
    Sci Rep. 2022 Feb 9;12(1):2215.