Christopher Konialis

A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation – case report and review of the literature

C. Konialis, C. Pangalos, Christos Aravidis, 2014, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

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

J. Schouten, K. Zoi, S. Savola, 2014, Hematology.

First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

C. Konialis, C. Pangalos, K. Lilakos, 2016, PeerJ.

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

C. Konialis, C. Pangalos, B. Hagnefelt, 2011, Prenatal diagnosis.

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

C. Konialis, C. Pangalos, InterGenetics, 2015, Fetal Diagnosis and Therapy.

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

C. Konialis, C. Pangalos, G. Kokkali, 2007, Prenatal diagnosis.

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

K. Spengos, S. Shim, C. Konialis, 2005, Prenatal diagnosis.

A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation – case report and review of the literature

C. Pangalos, Christos Aravidis, Z. Kosmaidou, 2014, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.