1 | Apport des exomes dans le diagnostic prénatal des anomalies génétiques
Pangalos C J Biol Med. 2017; 6(23):127-7
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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. |
3 | NIPT vs Molecular Karyotype
Pangalos C. Ultrasound in Obstetrics & Gynecology. 2017 March:97-102. PANGALOS_IAN_DONALD DEBATE DECEMBER 2015 FINAL – FOR PUBLICATION.pdf
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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, |
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 |
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 |
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 |
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 |
9 | 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 |
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 |
11 | 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 |
12 | 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 |
13 | 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 |
14 | 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 |
15 | 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 |
16 | 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 |
17 | 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 |
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. |
19 | 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. |
20 | 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 |
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. |
22 | 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. |
23 | 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. |
24 | 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. |
25 | 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. |
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 |
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. |
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 |
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 |
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):68-71 |
31 | Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis
Pangalos C, Avramopoulos D, Blouin JL, Raoul O, deBlois MC, Prieur M, Schinzel AA, Gika M, Abazis D, Antonarakis SE. Am J Hum Genet. 1994 Mar;54(3):473-81. Erratum in: Am J Hum Genet 1994 Jul;55(1):217 |
32 | Normal phenotype with paternal uniparental isodisomy for chromosome 21
Blouin JL, Avramopoulos D, Pangalos C, Antonarakis SE. Am J Hum Genet. 1993 Nov;53(5):1074-8 |
33 | No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in “mirror” duplications of chromosome 21
Pangalos C, Théophile D, Sinet PM, Marks A, Stamboulieh-Abazis D, Chettouh Z, Prieur M, Verellen C, Rethoré MO, Lejeune J, et al. Am J Hum Genet. 1992 Dec;51(6):1240-50 |
34 | DNA polymorphism analysis in families with recurrence of free trisomy 21
Pangalos CG, Talbot CC Jr, Lewis JG, Adelsberger PA, Petersen MB, Serre JL, Rethoré MO, de Blois MC, Parent P, Schinzel AA, et al. Am J Hum Genet. 1992 Nov;51(5):1015-27 |
35 | The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms
Antonarakis SE, Petersen MB, McInnis MG, Adelsberger PA, Schinzel AA, Binkert F, Pangalos C, Raoul O, Slaugenhaupt SA, Hafez M, et al. Am J Hum Genet. 1992 Mar;50(3):544-50 |
36 | Pure partial trisomy of the short arm of chromosome 5
Rethoré MO, Blois MC, Peeters M, Popowski P, Pangalos C, Lejeune J. Hum Genet. 1989 Jun;82(3):296-8 |
37 | Genetic counseling in balanced chromosomal inversions
Pangalos C. J Genet Hum. 1988 Jan;36(1-2):21-31 |
38 | CFC syndrome: a syndrome distinct from Noonan syndrome
Verloes A, Le Merrer M, Soyeur D, Kaplan J, Pangalos C, Rigo J, Briard ML. Ann Genet. 1988;31(4):230-4 |
39 | Molecular analysis of the parental origin of trisomy in two families with two children having regular trisomy 21
Pangalos C, Serre JL, Ghica M, Abazis D, Sinet PM, Rethoré MO, Lejeune J. Ann Genet. 1988;31(3):151-4 |
40 | Ring-14 and trisomy 14q in the same child
Pangalos C, Velissariou V, Ghica M, Liacacos D. Ann Genet. 1984;27(1):38-40 |
41 | Partial trisomy 13 (q21.3 leads to qter) resulting from a maternal translocation t (13;21)
Pangalos C, Couturier J. Ann Genet. 1981;24(3):179-81 |
42 | Partial 11q trisomy due to missegregation of maternal t(11;22) (q23;q11.1) translocation (author’s transl)
Pangalos C, Couturier J, Bartsocas C, Theodorou S. Nouv Presse Med. 1980 Nov 1;9(41):3065-7 |
43 | Localization of a structural locus of erythrocyte inorganic pyrophosphatase on chromosome 10 in man by the method of human-hamster cellular hybridization
Van-Cong N, Rebourcet R, Weil D, Pangalos C, Frézal J. C R Acad Sci Hebd Seances Acad Sci D. 1975 Aug 4-25;281(5-8):435-8 |
44 | Tay-Sachs and Sandhoff diseases: an hypothesis about the primary lesion based on hexosaminidase patterns in interspecific hybrids
Cong NV, Weil D, Rebourcet R, Pangalos C, Frézal J. Cytogenet Cell Genet. 1975;14(3-6):442-5 |
45 | Tay-Sachs and Sandhoff diseases: an hypothesis about the primary lesion based on hexosaminidase patterns in interspecific hybrids
Van Cong N, Weil D, Rebourcet R, Pangalos C, Frézal J. Birth Defects Orig Artic Ser. 1975;11(3):272-5 |