Οι Δημοσιεύσεις μας

1

Apport des exomes dans le diagnostic prénatal des anomalies génétiques

Pangalos C

J Biol Med. 2017; 6(23):127-7

J BIOL MED 2017.pdf

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
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

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