Christopher P. Konialis

Athens, ESYE31, Greece

Last Updated: 09/26/2026

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Found 8 publications

Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome.

Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome.

Journal: Child neurology open
Published: February 05, 2017

Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.

Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.

Journal: Clinical case reports
Published: August 31, 2016

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

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

Journal: PeerJ
Published: February 17, 2016

The APOE E4 Allele Confers Increased Risk of Ischemic Stroke Among Greek Carriers.

The APOE E4 Allele Confers Increased Risk of Ischemic Stroke Among Greek Carriers.

Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University
Published: January 23, 2015

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

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

Journal: Fetal diagnosis and therapy
Published: June 06, 2014

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

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

Journal: 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
Published: October 31, 2013

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

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

Journal: Hematology (Amsterdam, Netherlands)
Published: August 10, 2013

A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT].

A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT].

Journal: Hemoglobin
Published: October 31, 2012
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Last Updated: 09/26/2026