All Stories

  1. Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center's 30 Years' Experience and 90,000 Cases

    Article • Fetal Diagnosis and Therapy, January 2015, Karger Publishers

    Dr Christopher Konialis

  2. A familial case of Muenke syndrome. Diverse expressivity of theFGFR3Pro252Arg mutation – case report and review of the literature

    Article • The Journal of Maternal-Fetal & Neonatal Medicine, November 2013, Taylor & Francis

    Dr Christopher Konialis

  3. Routine application of a novel MLPA-based first-line screening test uncovers clinically relevant copy number aberrations in haematological malignancies undetectable by conventional cytogenetics

    Article • Hematology, November 2013, Taylor & Francis

    Dr Christopher Konialis

  4. A Novel β0-Thalassemia Frameshift Mutation: [HBB:c.216delT]

    Article • Hemoglobin, August 2012, Taylor & Francis

    Dr Christopher Konialis

  5. Human embryo twinning with proof of monozygocity

    Article • Middle East Fertility Society Journal, September 2011, Elsevier

    Dr Christopher Konialis

  6. Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis

    Article • Prenatal Diagnosis, March 2011, Wiley

    Dr Christopher Konialis

  7. Human embryo splitting: proof of homozygosity

    Article • Fertility and Sterility, September 2010, Elsevier

    Dr Christopher Konialis

  8. Successful Hematopoietic Stem Cell Transplantation in 2 Children with X-Linked Chronic Granulomatous Disease from Their Unaffected HLA-Identical Siblings Selected Using Preimplantation Genetic Diagnosis Combined with HLA Typing

    Article • Biology of Blood and Marrow Transplantation, March 2010, Elsevier

    Dr Christopher Konialis

  9. Birth of a Healthy Histocompatible Sibling following Preimplantation Genetic Diagnosis for Chronic Granulomatous Disease at the Blastocyst Stage Coupled to HLA Typing

    Article • Fetal Diagnosis and Therapy, January 2008, Karger Publishers

    Dr Christopher Konialis

  10. Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

    Article • Prenatal Diagnosis, January 2007, Wiley

    Dr Christopher Konialis

  11. CFTR ΔF508 Mutation Detection from Dried Blood Samples in the First Trimester of Pregnancy: A Possible Routine Prenatal Screening Strategy for Cystic Fibrosis?

    Article • Fetal Diagnosis and Therapy, September 2006, Karger Publishers

    Dr Christopher Konialis

  12. The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis

    Article • Prenatal Diagnosis, January 2005, Wiley

    Dr Christopher Konialis

  13. Report on the third EDNAP collaborative STR exercise

    Article • Forensic Science International, April 1996, Elsevier

    Dr Christopher Konialis

  14. Vitellogenin mRNA fromDacus oleae: Characterization, cDNA cloning, and dependence on sex and developmental stage

    Article • Archives of Insect Biochemistry and Physiology, January 1988, Wiley

    Dr Christopher Konialis

  15. Assignment of the gene determining human carbonic anhydrase, CAI, to chromosome 8

    Article • Annals of Human Genetics, May 1986, Wiley

    Dr Christopher Konialis

  16. Cloned cDNA for rabbit erythrocyte carbonic anhydrase I: A novel erythrocyte-specific probe to study development in erythroid tissues.

    Article • Proceedings of the National Academy of Sciences, February 1985, Proceedings of the National Academy of Sciences

    Dr Christopher Konialis