Οι Δημοσιεύσεις μας

1	Apport des exomes dans le diagnostic prénatal des anomalies génétiques Pangalos C J Biol Med. 2017; 6(23):127-7 View Publication
2	Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome. Gontika MP, Konialis C, Pangalos C, Papavasiliou A. Child Neurol Open. 2017 May 8;4:2329048X17706794. doi: 10.1177/2329048X17706794. eCollection 2017 Jan-Dec. View Publication
3	NIPT vs Molecular Karyotype Pangalos C. Ultrasound in Obstetrics & Gynecology. 2017 March:97-102. View Publication
4	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 C, Assimakopoulos E, Hagnefelt B, Karapanou S, Sotiriadis A, Pangalos C. Clinical Case Reports, Received 31 August 2016 Accepted 25 December 2016 Online 4 February 2017 View Publication
5	The APOE E4 Allele Confers Increased Risk of Ischemic Stroke Among Greek Carriers Konialis C, Spengos K, Iliopoulos P, Karapanou S, Gialafos E, Hagnefelt B, Vemmos K, Zakopoulos N, Pangalos C. Adv Clin Exp Med. 2016 May-Jun;25(3):471-8. doi: 10.17219 View Publication
6	First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects Pangalos C, Hagnefelt B, Lilakos K, Konialis C. PeerJ. 2016 Apr 26;4:e1955. doi: 10.7717 View Publication
7	Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center’s 30 Years’ Experience and 90,000 Cases Konialis C, Pangalos C. Fetal Diagn Ther. 2015;38(3):218-32. doi: 10.1159 View Publication
8	A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation–case report and review of the literature Aravidis C, Konialis CP, Pangalos CG, Kosmaidou Z. J Matern Fetal Neonatal Med. 2014 Sep;27(14):1502-6. doi: 10.3109/14767058.2013.860520 View Publication
9	A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT] Konialis C, Hagnefelt B, Sevastidou S, Pispili K, Pangalos C. Hemoglobin. 2012;36(6):586-8. doi: 10.3109/03630269.2012.736442 View Publication
10	Resistin in mid-trimester amniotic fluid in trisomy 21 Vrachnis N, Gkogkas L, Iliodromiti S, Grigoriadis C, Samoli E, Iliodromiti Z, Pangalos C, Pappa KI, Drakoulis N, Creatsas G, Botsis D. J Matern Fetal Neonatal Med. 2013 Nov;26(16):1576-80. doi: 10.3109/14767058.2013.789848 View Publication
11	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 C, Savola S, Karapanou S, Markaki A, Karabela M, Polychronopoulou S, Ampatzidou M, Voulgarelis M, Viniou NA, Variami E, Koumarianou A, Zoi K, Hagnefelt B, Schouten JP, Pangalos C. Hematology. 2014 Jun;19(4):217-24. doi: 10.1179/1607845413Y.0000000112 View Publication
12	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 E, Konialis CP, Peristeri I, Kitra V, Dimopoulou M, Petropoulou T, Vessalas G, Papassavas A, Tzanoudaki M, Kokkali G, Petrakou E, Spiropoulos A, Pangalos CG, Pantos K, Graphakos S. Biol Blood Marrow Transplant. 2010 Mar;16(3):344-9. doi: 10.1016/j.bbmt.2009.10.010 View Publication
13	Fetuin A concentration in the second trimester amniotic fluid of fetuses with trisomy 21 appears to be lower: phenotypic considerations Iliodromiti S, Vrachnis N, Samoli E, Iliodromiti Z, Pangalos C, Drakoulis N, Creatsas G, Botsis D. Mediators Inflamm. 2012;2012:138971. doi: 10.1155/2012/138971 View Publication
14	Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis Konialis C, Hagnefelt B, Sevastidou S, Karapanou S, Pispili K, Markaki A, Pangalos C. Prenat Diagn. 2011 Jun;31(6):571-7. doi: 10.1002/pd.2750 View Publication
15	CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis? Konialis CP, Hagnefelt B, Kazamia C, Karapanou S, Pangalos C. Fetal Diagn Ther. 2007;22(1):41-4 View Publication
16	Birth of a healthy histocompatible sibling following preimplantation genetic diagnosis for chronic granulomatous disease at the blastocyst stage coupled to HLA typing Pangalos CG, Hagnefelt B, Kokkali G, Pantos K, Konialis CP. Fetal Diagn Ther. 2008;24(4):334-9. doi: 10.1159/000160665 View Publication
17	Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Konialis C, Hagnefelt B, Kokkali G, Pantos C, Pangalos C. Prenat Diagn. 2007 Nov;27(11):1079-83 View Publication
18	The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis Milunsky A, Konialis C, Shim SH, Maher TA, Spengos K, Ito M, Pangalos C. Prenat Diagn. 2005 Nov;25(11):1057-8. View Publication
19	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. Haematologica. 2003 Mar;88(3):268-74 View Publication
20	Acute myelogenous leukemia with tetrasomy 8 is a disease with a poor prognosis Tsirigotis P, Papageorgiou S, Abatzis D, Athanatou S, Girkas C, Pappa V, Pangalos C, Papageorgiou E, Dervenoulas J, Raptis S. Cancer Genet Cytogenet. 2005 Aug;161(1):78-81. View Publication
21	Molecular analysis of transferrin receptor mRNA expression in acute myeloid leukaemia Kollia P, Stavroyianni N, Stamatopoulos K, Zoi K, Viniou N, Mantzourani M, Noguchi CT, Paterakis G, Abazis D, Pangalos C, Loukopoulos D, Yataganas X. Br J Haematol. 2001 Oct;115(1):19-24. View Publication
22	Acute promyelocytic leukemia relapsing into FAB-M2 acute myeloid leukemia with trisomy 8 Stavroyianni N, Yataganas X, Abazis D, Pangalos C, Meletis J. Cancer Genet Cytogenet. 2000 Feb;117(1):82-3. View Publication
23	Malignancy: Molecular Demonstration of BCR/ABL Fusion in a Patient with Chronic Myelogenous Leukemia with Basophilia Carrying a Variant t(16;22) (q24;q11) Philadelphia Chromosome Mantzourani M, Stavroyianni N, Abazis D, Kyriazopoulos P, Pangalos C, Loukopoulos D, Yataganas X. Hematology. 1999;4(3):211-216. View Publication
24	Cytogenetic analysis and RAS mutations in primary myelodysplastic syndromes Plata E, Viniou N, Abazis D, Konstantopoulos K, Troungos C, Vaiopoulos G, Meletis J, Kittas C, Pangalos C, Yataganas X. Cancer Genet Cytogenet. 1999 Jun;111(2):124-9. View Publication
25	Growth retardation, distinct oriental-like facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder. An unknown entity Dacou-Voutetakis C, Bazopoulou-Kyrkanidou E, Kyrkanides S, Pangalos C, Apostolakis A. Genet Couns. 1999;10(3):245-50. View Publication
26	A novel chromosomal abnormality involving chromosomes 2 and 18 in a patient with myelodysplastic syndrome Viniou N, Abazis D, Yataganas X, Benkhalifa M, Stamatopoulos K, Vayopoulos G, Plata E, Loukopoulos D, Pangalos C. Cancer Genet Cytogenet. 1997 Jul 1;96(1):7-12 View Publication
27	Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter Sarri C, Gyftodimou J, Avramopoulos D, Grigoriadou M, Pedersen W, Pandelia E, Pangalos C, Abazis D, Kitsos G, Vassilopoulos D, Brøndum-Nielsen K, Petersen MB. Am J Med Genet. 1997 May 2;70(1):87-94. View Publication
28	Molecular demonstration of BCR/ABL fusion in two cases with chronic myeloproliferative disorder carrying variant Philadelphia t(14;22)(q32;q11) Mantzourani M, Stamatopoulos K, Abazis D, Kontopidou F, Viniou N, Pangalis GA, Pangalos C, Loukopoulos D. Cancer Genet Cytogenet. 1996 Oct 1;91(1):82-7 View Publication
29	An unusual cytogenetic abnormality involving chromosomes 1 and 7 in a case of chronic myelomonocytic leukemia Papadhimitriou SI, Abazis D, Repa C, Papaconstantinou C, Papanastasiou C, Pangalos C, Stamatelou M. Cancer Genet Cytogenet. 1995 Nov;85(1):75-7 View Publication
30	Hypereosinophilia associated with monosomy 7 Viniou N, Yataganas X, Abazis D, Paterakis G, Vavourakis S, Stamatopoulos K, Matzourani M, Loukopoulos D, Pangalos C. Cancer Genet Cytogenet. 1995 Mar;80(1):68-7 View Publication

Apport des exomes dans le diagnostic prénatal des anomalies génétiques

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

NIPT vs Molecular Karyotype

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

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

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

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

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

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

Resistin in mid-trimester amniotic fluid in trisomy 21

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

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

Fetuin A concentration in the second trimester amniotic fluid of fetuses with trisomy 21 appears to be lower: phenotypic considerations

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

CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis?

Birth of a healthy histocompatible sibling following preimplantation genetic diagnosis for chronic granulomatous disease at the blastocyst stage coupled to HLA typing

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

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

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

Acute myelogenous leukemia with tetrasomy 8 is a disease with a poor prognosis

Molecular analysis of transferrin receptor mRNA expression in acute myeloid leukaemia

Acute promyelocytic leukemia relapsing into FAB-M2 acute myeloid leukemia with trisomy 8

Malignancy: Molecular Demonstration of BCR/ABL Fusion in a Patient with Chronic Myelogenous Leukemia with Basophilia Carrying a Variant t(16;22) (q24;q11) Philadelphia Chromosome

Cytogenetic analysis and RAS mutations in primary myelodysplastic syndromes

Growth retardation, distinct oriental-like facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder. An unknown entity

A novel chromosomal abnormality involving chromosomes 2 and 18 in a patient with myelodysplastic syndrome

Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter

Molecular demonstration of BCR/ABL fusion in two cases with chronic myeloproliferative disorder carrying variant Philadelphia t(14;22)(q32;q11)

An unusual cytogenetic abnormality involving chromosomes 1 and 7 in a case of chronic myelomonocytic leukemia

Hypereosinophilia associated with monosomy 7