First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects
Pangalos, Constantinos, Hagnefelt, Birgitta, Lilakos, Konstantinos, Konialis, Christopher
Published in PeerJ (San Francisco, CA) (26.04.2016)
Published in PeerJ (San Francisco, CA) (26.04.2016)
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Journal Article
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature
Aravidis, Christos, Konialis, Christopher P, Pangalos, Constantinos G, Kosmaidou, Zoi
Published in The journal of maternal-fetal & neonatal medicine (01.09.2014)
Published in The journal of maternal-fetal & neonatal medicine (01.09.2014)
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Journal Article
Routine application of a novel MLPA-based first-line screening test uncovers clinically relevant copy number aberrations in haematological malignancies undetectable by conventional cytogenetics
Konialis, Christopher, Savola, Suvi, Karapanou, Sophia, Markaki, Aggeliki, Karabela, Maria, Polychronopoulou, Sophia, Ampatzidou, Maria, Voulgarelis, Michael, Viniou, Nora-Athina, Variami, Eleni, Koumarianou, Argyro, Zoi, Katerina, Hagnefelt, Birgitta, Schouten, Jan P., Pangalos, Constantinos
Published in Hematology (Luxembourg) (01.06.2014)
Published in Hematology (Luxembourg) (01.06.2014)
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Journal Article
Birth of a Healthy Histocompatible Sibling following Preimplantation Genetic Diagnosis for Chronic Granulomatous Disease at the Blastocyst Stage Coupled to HLA Typing
Pangalos, Constantinos G., Hagnefelt, Birgitta, Kokkali, Georgia, Pantos, Konstantinos, Konialis, Christopher P.
Published in Fetal diagnosis and therapy (01.01.2008)
Published in Fetal diagnosis and therapy (01.01.2008)
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Journal Article
Human embryo twinning with proof of monozygocity
Illmensee, Karl, Levanduski, Mike, Konialis, Christopher, Pangalos, Constantinos, Vithoulkas, Alexandros, Goudas, Vasilios T.
Published in Middle East Fertility Society journal (01.09.2011)
Published in Middle East Fertility Society journal (01.09.2011)
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Journal Article
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
Goussetis, Evgenios, Konialis, Christopher P, Peristeri, Ioulia, Kitra, Vasiliki, Dimopoulou, Maria, Petropoulou, Theoni, Vessalas, George, Papassavas, Andreas, Tzanoudaki, Marianna, Kokkali, Georgia, Petrakou, Eftychia, Spiropoulos, Antonia, Pangalos, Constantinos G, Pantos, Konstantinos, Graphakos, Stelios
Published in Biology of blood and marrow transplantation (01.03.2010)
Published in Biology of blood and marrow transplantation (01.03.2010)
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Journal Article
The APOE E4 Allele Confers Increased Risk of Ischemic Stroke Among Greek Carriers
Konialis, Christopher, Spengos, Konstantinos, Iliopoulos, Panagiotis, Karapanou, Sophia, Gialafos, Elias, Hagnefelt, Birgitta, Vemmos, Konstantinos, Zakopoulos, Nikolaos, Pangalos, Constantinos
Published in Advances in clinical and experimental medicine : official organ Wroclaw Medical University (01.05.2016)
Published in Advances in clinical and experimental medicine : official organ Wroclaw Medical University (01.05.2016)
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Journal Article
Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis
Konialis, Christopher, Hagnefelt, Birgitta, Sevastidou, Sophia, Karapanou, Sophia, Pispili, Katerina, Markaki, Aggeliki, Pangalos, Constantinos
Published in Prenatal diagnosis (01.06.2011)
Published in Prenatal diagnosis (01.06.2011)
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Journal Article
First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects
Pangalos, Constantinos, Hagnefelt, Birgitta, Lilakos, Konstantinos, Konialis, Christopher
Published in PeerJ preprints (02.03.2016)
Published in PeerJ preprints (02.03.2016)
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Journal Article
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
Konialis, Christopher, Assimakopoulos, Efstratios, Hagnefelt, Birgitta, Karapanou, Sophia, Sotiriadis, Alexandros, Pangalos, Constantinos
Published in Clinical case reports (01.03.2017)
Published in Clinical case reports (01.03.2017)
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Journal Article
A Novel β0-Thalassemia Frameshift Mutation: [HBB:c.216delT]
Konialis, Christopher, Hagnefelt, Birgitta, Sevastidou, Sophia, Pispili, Katerina, Pangalos, Constantinos
Published in Hemoglobin (01.10.2012)
Published in Hemoglobin (01.10.2012)
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Journal Article
A Novel β 0 -Thalassemia Frameshift Mutation: [HBB:c.216delT]
Konialis, Christopher, Hagnefelt, Birgitta, Sevastidou, Sophia, Pispili, Katerina, Pangalos, Constantinos
Published in Hemoglobin (01.08.2012)
Published in Hemoglobin (01.08.2012)
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Journal Article
A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT]
Konialis, Christopher, Hagnefelt, Birgitta, Sevastidou, Sophia, Pispili, Katerina, Pangalos, Constantinos
Published in Hemoglobin (2012)
Published in Hemoglobin (2012)
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Journal Article
CFTR ΔF508 Mutation Detection from Dried Blood Samples in the First Trimester of Pregnancy: A Possible Routine Prenatal Screening Strategy for Cystic Fibrosis?
Konialis, Christopher P., Hagnefelt, Birgitta, Kazamia, Constantina, Karapanou, Sophia, Pangalos, Constantinos
Published in Fetal diagnosis and therapy (01.01.2007)
Published in Fetal diagnosis and therapy (01.01.2007)
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Journal Article
CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis?
Konialis, Christopher P, Hagnefelt, Birgitta, Kazamia, Constantina, Karapanou, Sophia, Pangalos, Constantinos
Published in Fetal diagnosis and therapy (2007)
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Published in Fetal diagnosis and therapy (2007)
Journal Article
CFTR [Delta]F508 Mutation Detection from Dried Blood Samples in the First Trimester of Pregnancy: A Possible Routine Prenatal Screening Strategy for Cystic Fibrosis?
Konialis, Christopher P, Hagnefelt, Birgitta, Kazamia, Constantina, Karapanou, Sophia, Pangalos, Constantinos
Published in Fetal diagnosis and therapy (01.12.2006)
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Published in Fetal diagnosis and therapy (01.12.2006)
Journal Article
Expression of recombination activating genes-1 and-2 immunoglobulin heavy chain gene rearrangements in acute myeloid leukemia: evaluation of biological and clinical significance in a series of 76 uniformly treated patients and review of the literature
Stavroyianni, N, Belessi, C, Stamatopoulos, K, Kosmas, C, Paterakis, G, Abazis, D, Pangalos, C, Yataganas, X, Greek AML Study Group
Published in Haematologica (Roma) (01.03.2003)
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Published in Haematologica (Roma) (01.03.2003)
Journal Article
Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis
PANGALOS, C, AVRAMOPOULOS, D, BLOUIN, J.-L, RAOUL, O, DEBLOIS, M.-C, PRIEUR, M, SCHINZEL, A. A, GIKA, M, ABAZIS, D, ANTONARAKIS, S. E
Published in American journal of human genetics (01.03.1994)
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Published in American journal of human genetics (01.03.1994)
Journal Article
Normal phenotype with paternal uniparental isodisomy for chromosome 21
BLOUIN, J.-L, AVRAMOPOULOS, D, PANGALOS, C, ANTONARAKIS, S. E
Published in American journal of human genetics (01.11.1993)
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Published in American journal of human genetics (01.11.1993)
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