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Emmanuel Kanavakis

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Greece

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Areti Syrmou; Maria Tzetis; Helen Fryssira; Krinio Giannikou; Sophia Kitsiou-Tzeli; Konstantina Kosma; Periklis Makrythanasis; Vasilis Oikonomakis; Emmanuel Kanavakis
Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.
Eirini Tsoutsou; Maria Tzetis; Krinio Giannikou; Emmanuel Kanavakis; Anastasia Kanioura; Konstantina Kosma; Vasilis Oikonomakis; Areti Syrmou; Helen Fryssira
Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
Thessalia E Papasavva; Jan Traeger-Synodinos; Christiana Ioannou; Emmanuel Kanavakis; Carsten W Lederer; Christiana Makariou; Ariadne Mavrou; Marina Kleanthous
A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.

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All Publications

2013: Areti Syrmou; Maria Tzetis; Helen Fryssira; Krinio Giannikou; Sophia Kitsiou-Tzeli; Konstantina Kosma; Periklis Makrythanasis; Vasilis Oikonomakis; Emmanuel Kanavakis
Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.
Pediatric research 2013;73(6):772-6.
2013: Eirini Tsoutsou; Maria Tzetis; Krinio Giannikou; Emmanuel Kanavakis; Anastasia Kanioura; Konstantina Kosma; Vasilis Oikonomakis; Areti Syrmou; Helen Fryssira
Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2013;17(3):316-20.
2013: Thessalia E Papasavva; Jan Traeger-Synodinos; Christiana Ioannou; Emmanuel Kanavakis; Carsten W Lederer; Christiana Makariou; Ariadne Mavrou; Marina Kleanthous
A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.
Annals of human genetics 2013;77(2):115-24.
2012: Myrto Poulou; Aspasia Destouni; Irini Fylaktou; Emmanuel Kanavakis; Maria Tzetis
Genotyping efficiency of 2 primer sets and an unlabeled oligonucleotide probe for the p.Phe508del in exon 10 of the CFTR gene as determined with high-resolution melting analysis.
Clinical chemistry 2012;58(10):1490-2.
2012: Sophia Kitsiou-Tzeli; Sophia Malaktari-Skarantavou; Spyridon Megremis; Christodoulos Stefanadis; Joanne Traeger-Synodinos; Charalampos Vlachopoulos; Maria Deligiorgi; Irene Fylaktou; Christina Kanaka-Gantenbein; Emmanuel Kanavakis
Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.
Hormones (Athens, Greece) 2012;11(3):361-7.
2012: Myrto Poulou; Maria Fotoulaki; Irini Fylaktou; Emmanuel Kanavakis; Maria Tzetis
Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2012;11(4):344-8.
2012: Maria Tzetis; Athena Xaidara; Helen Frysira; Sophia Kitsiou-Tzeli; Emmanuel Kanavakis
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Expert review of molecular diagnostics 2012;12(5):449-57.
2012: Stavroula Psoni; Christalena Sofocleous; Joanne Traeger-Synodinos; Emmanuel Kanavakis; Sophia Kitsiou-Tzeli; Helen Fryssira-Kanioura
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
Brain & development 2012;34(6):487-95.
2012: Frantzeskos Papanikos; Margarita Petropoulou; Theodore K Christopoulos; Alexandra Iliadi; Penelope C Ioannou; Emmanuel Kanavakis; Jan Traeger-Synodinos
Lateral flow dipstick test for genotyping of 15 beta-globin gene (HBB) mutations with naked-eye detection.
Analytica chimica acta 2012;727():61-6.
2012: Panos Sakellariou; C Sofocleous; Helen Fryssira; K Gounaris; Kyriaki Kekou; Panagiota Manta; A Panousopoulou; Emmanuel Kanavakis
Mutation spectrum and phenotypic manifestation in FSHD Greek patients.
Neuromuscular disorders : NMD 2012;22(4):339-49.
2012: Marion Phylipsen; Alexandra Stamoulakatou; Jan Traeger-Synodinos; Peter Van Delft; Martijn van der Kraan; Greet Bakker; Mariska Geerts; Piero C Giordano; Emmanuel Kanavakis; Markisia Karagiorga; Cornelis L Harteveld
A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait.
European journal of haematology 2012;88(4):356-62.
2012: Aggeliki Kolialexi; Aris Antsaklis; Paraskevi Apostolou; Emmanuel Kanavakis; Nikos Papantoniou; Georgia Tounta; Christina Vrettou; Ariadni Mavrou
Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR.
European journal of obstetrics, gynecology, and reproductive biology 2012;161(1):34-7.
2012: Berrin Durmaz; Yesim Aydinok; Emin Karaca; Huseyin Onay; Ferda Ozkinay; Erol Tavmergen; Joanne Traeger-Synodinos; Christina Vrettou; Emmanuel Kanavakis
Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders.
Hemoglobin 2012;36(3):230-43.
2012: Aspasia Destouni; Georgia Kakourou; Marina Kleanthous; Joanne Traeger-Synodinos; Christina Vrettou; George Christopoulos; Emmanuel Kanavakis
Microsatellite markers within the α-globin gene cluster for robust preimplantation genetic diagnosis of severe α-thalassemia syndromes in Mediterranean populations.
Hemoglobin 2012;36(3):253-64.
2011: Sophia Kitsiou-Tzeli; Maria Kosmadaki; Eleni Leze; Christina Vrettou; Patrick Willems; Emmanuel Kanavakis; A Katsarou
Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene.
The Journal of dermatology 2011;38(12):1205-8.
2011: Spyridon Megremis; Andromachi Mitsioni; Constantinos Stefanidis; Irene Fylaktou; Emmanuel Kanavakis; Filadelfia Komianou; Sofia Kitsiou Tzeli; Joanne Traeger-Synodinos
Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.
European journal of pediatrics 2011;170(12):1529-34.
2011: Ioannis K Litos; Theodore K Christopoulos; Penelope C Ioannou; Emmanuel Kanavakis; Maria Tzetis; Jan Traeger-Synodinos
Quadruple-allele dipstick test for simultaneous visual genotyping of A896G (Asp299Gly) and C1196T (Thr399Ile) polymorphisms in the toll-like receptor-4 gene.
Clinica chimica acta; international journal of clinical chemistry 2011;412(21-22):1968-72.
2011: Flora Tzifi; Corina Athanassaki; Roser Pons; Myrto Poulou; Emmanuel Kanavakis
Congenital cataracts, facial dysmorphism, and neuropathy syndrome.
Pediatric neurology 2011;45(3):206-8.
2011: Alexandra Iliadi; Penelope C Ioannou; Emmanuel Kanavakis; Margarita Petropoulou; Nikolaos Anagnostopoulos; Theodore K Christopoulos; Joanne Traeger-Synodinos
Absolute quantification of the alleles in somatic point mutations by bioluminometric methods based on competitive polymerase chain reaction in the presence of a locked nucleic acid blocker or an allele-specific primer.
Analytical chemistry 2011;83(17):6545-51.
2011: Antonia Spiropoulos; Kalliopi Stefanaki; Maria Theodosaki; Maria Tzetis; Stelios Graphakos; Emmanuel Kanavakis; Ioannis Papassotiriou; George Paterakis; Eftichia Petrakou; Eleftheria Roma; Maria N Dimopoulou; Krinio Giannikou; Evgenios Goussetis
Rapid clinical-scale propagation of mesenchymal stem cells using cultures initiated with immunoselected bone marrow CD105+ cells.
Journal of cellular and molecular medicine 2011;15(9):1983-8.
2011: Georgia Tounta; George Th Tsangaris; Emmanuel Kanavakis; Aggeliki Kolialexi; Nikolas Papantoniou; Ariadni Mavrou
Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis.
The EPMA journal 2011;2(2):163-71.
2011: Georgia Tounta; Christina Vrettou; Aggeliki Kolialexi; Nikolas Papantoniou; Aspasia Destouni; George Th Tsangaris; Aris Antsaklis; Emmanuel Kanavakis; Ariadni Mavrou
A multiplex PCR for non-invasive fetal RHD genotyping using cell-free fetal DNA.
In vivo (Athens, Greece) 2011;25(3):411-7.
2011: Joanne Traeger-Synodinos; Christina Vrettou; Emmanuel Kanavakis
Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies.
Expert review of molecular diagnostics 2011;11(3):299-312.
2011: Anna Gizi; Ioannis Papassotiriou; Filia Apostolakou; Christina Lazaropoulou; Maria Papastamataki; Ino Kanavaki; Vassiliki Kalotychou; Evgenios Goussetis; Antonios Kattamis; Ioannis Rombos; Emmanuel Kanavakis
Assessment of oxidative stress in patients with sickle cell disease: The glutathione system and the oxidant-antioxidant status.
Blood cells, molecules & diseases 2011;46(3):220-5.
2011: John S Waye; Lisa M Nakamura-Garrett; Barry Eng; Emmanuel Kanavakis; Joanne Traeger-Synodinos
β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C].
Hemoglobin 2011;35(1):84-6.
2011: Sophia Zachaki; Christina Vrettou; Aspasia Destouni; Ggeorgia Kokkali; Joanne Traeger-Synodinos; Emmanuel Kanavakis
Novel and known microsatellite markers within the β-globin cluster to support robust preimplantation genetic diagnosis of β-thalassemia and sickle cell syndromes.
Hemoglobin 2011;35(1):56-66.
2011: Helen Fryssira; Talia Kakourou; Manthoula Valari; Kaliopi Stefanaki; Stella Amenta; Emmanuel Kanavakis
Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene.
Acta paediatrica (Oslo, Norway : 1992) 2011;100(1):128-33.
2010: Christos Shammas; Thessalia Papasavva; Xenia Felekis; Christos Christophorou; Hanno Roomere; Jan Traeger Synodinos; Emmanuel Kanavakis; Mohammed El-Khateeb; Hanan Hamamy; Tamara Mahmoud; Mohammad Shboul; Amal El Beshlawy; Dvora Filon; Ibtessam R Hussein; Renzo Galanello; Giovanni Romeo; Marina Kleanthous
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2010;48(12):1713-8.
2010: Ioannis G Fatouros; Athanasios Jamurtas; Michalis G Nikolaidis; Aspasia Destouni; Yiannis Michailidis; Christina Vrettou; Ioannis Douroudos; Alexandra Avloniti; Athanasios Chatzinikolaou; Kiriakos Taxildaris; Emmanuel Kanavakis; Ioannis Papassotiriou; DEMETRIOS KOURETAS
Time of sampling is crucial for measurement of cell-free plasma DNA following acute aseptic inflammation induced by exercise.
Clinical biochemistry 2010;43(16-17):1368-70.
2010: Marios Kaliakatsos; Aristeidis Giannakopoulos; Helen Fryssira; Maria Kanariou; Anna-Venetia Skiathitou; Tania Siahanidou; Krinio Giannikou; Periklis Makrythanasis; Emmanuel Kanavakis; Maria Tzetis
Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.
Journal of human genetics 2010;55(11):761-3.
2010: Periklis Makrythanasis; Maria Tzetis; Aggeliki Rapti; Athanasios Papatheodorou; Maria Tsipi; Sophia Kitsiou-Tzeli; Alexia Tsiamouri; Myrto Poulou; Charis Roussos; Emmanuel Kanavakis
Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients.
Genetic testing and molecular biomarkers 2010;14(4):577-84.
2010: Evgenios Goussetis; Ioulia Peristeri; Vasiliki Kitra; Joanne Traeger-Synodinos; Maria Theodosaki; Katerina Psarra; Maria Kanariou; Fotini Tzortzatou-Stathopoulou; Eftichia Petrakou; Irene Fylaktou; Emmanuel Kanavakis; Stelios Graphakos
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome.
The Journal of allergy and clinical immunology 2010;126(2):392-4.
2010: Sophia Kitsiou-Tzeli; Maria Tzetis; Christalena Sofocleous; Christina Vrettou; Athena Xaidara; Krinio Giannikou; Andreas Pampanos; Ariadni Mavrou; Emmanuel Kanavakis
De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.
American journal of medical genetics. Part A 2010;152A(8):1925-32.
2010: Jessica K Konstantou; Alexandra C Iliadi; Penelope C Ioannou; Theodore K Christopoulos; Nikolaos Anagnostopoulos; Emmanuel Kanavakis; Jan Traeger-Synodinos
Visual screening for JAK2V617F mutation by a disposable dipstick.
Analytical and bioanalytical chemistry 2010;397(5):1911-6.
2010: Roser Pons; Mercedes Serrano; Aida Ormazabal; Claudio Toma; Angels Garcia-Cazorla; Estela Area; Marta Ribasés; Emmanuel Kanavakis; Kaliopi Drakaki; Aristotelis Giannakopoulos; Irene Orfanou; Sotiris Youroukos; Bru Cormand; Rafael Artuch
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
Movement disorders : official journal of the Movement Disorder Society 2010;25(8):1086-90.
2010: Stavroula Psoni; Christalena Sofocleous; Joanne Traeger-Synodinos; Sophia Kitsiou-Tzeli; Emmanuel Kanavakis; Helen Fryssira-Kanioura
Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
Pediatric research 2010;67(5):551-6.
2010: Athanasios K Anagnostopoulos; Aggeliki Kolialexi; Ariadni Mavrou; Konstantinos Vougas; Nikos Papantoniou; Aris Antsaklis; Emmanuel Kanavakis; Michael Fountoulakis; George Th Tsangaris
Proteomic analysis of amniotic fluid in pregnancies with Klinefelter syndrome foetuses.
Journal of proteomics 2010;73(5):943-50.
2010: Pandelis Spyrou; Marios Phylactides; Carsten W Lederer; Lucas Kithreotis; Andriani Kirri; Soteroulla Christou; Elena Kkolou; Emmanuel Kanavakis; Nicholas P Anagnou; George Stamatoyannopoulos; Marina Kleanthous
Compounds of the anthracycline family of antibiotics elevate human gamma-globin expression both in erythroid cultures and in a transgenic mouse model.
Blood cells, molecules & diseases 2010;44(2):100-6.
2010: Stavroula Psoni; Patrick J Willems; Emmanuel Kanavakis; Ariadne Mavrou; Helen Frissyra; Joanne Traeger-Synodinos; Christalena Sofokleous; Periklis Makrythanassis; Sophia Kitsiou-Tzeli
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2010;14(2):188-91.
2010: Aspasia Destouni; Christina Vrettou; Joanne Traeger-Synodinos; Stephen Davies; Minas Mastrominas; Emmanuel Kanavakis
PGD for glycogen storage disease type IV: birth of healthy twins following successful clinical application of a mutation-specific protocol.
Prenatal diagnosis 2010;30(2):180-2.
2010: Joanne Traeger-Synodinos; Varvara Douna; Ioannis Papassotiriou; Alexandra Stamoulakatou; Vasilis Ladis; Tania Siahanidou; Irine Fylaktou; Emmanuel Kanavakis
Variable and often severe phenotypic expression in patients with the α-thalassemic variant Hb Agrinio [α29(B10)Leu→Pro (α2)].
Hemoglobin 2010;34(5):430-8.
2010: Athanasios Papatheodorou; Periklis Makrythanasis; Marios Kaliakatsos; Aikaterini Dimakou; Dora Orfanidou; Charis Roussos; Emmanuel Kanavakis; Maria Tzetis
Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients.
Clinical biochemistry 2010;43(1-2):43-50.
2009: Alexandra Iliadi; Periklis Makrythanasis; Maria Tzetis; Maria Tsipi; Joanne Traeger-Synodinos; Penelope C Ioannou; Aggeliki Rapti; Emmanuel Kanavakis; Theodore K Christopoulos
Association of TLR4 single-nucleotide polymorphisms and sarcoidosis in Greek patients.
Genetic testing and molecular biomarkers 2009;13(6):849-53.
2009: Vaya Tsiakalou; Margarita Petropoulou; Penelope C Ioannou; Theodore K Christopoulos; Emmanuel Kanavakis; Nikolaos I Anagnostopoulos; Ioanna Savvidou; Joanne Traeger-Synodinos
Bioluminometric assay for relative quantification of mutant allele burden: application to the oncogenic somatic point mutation JAK2 V617F.
Analytical chemistry 2009;81(20):8596-602.
2009: Andreas Pampanos; Konstantina Volaki; Emmanuel Kanavakis; Ourania Papandreou; Sotiris Youroukos; Loretta Thomaidis; Savvas Karkelis; Maria Tzetis; Sophia Kitsiou-Tzeli
A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population.
Genetic testing and molecular biomarkers 2009;13(5):611-5.
2009: Eleni Alexioy; Eleni Alexioy; Eftichios Trakakis; Dimitrios Kassanos; George Farmakidis; Antonios Kondylios; Demetrios Laggas; Emmanuel Salamalekis; Lia Florentin; Emmanuel Kanavakis; George Basios; Pantelis Trompoukis; Lina Georgiadoy; Takis Panagiotopoulos
Predictive value of increased nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities.
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 2009;22(10):857-62.
2009: C Christofidou; C Sofocleous; Christina Vrettou; A Destouni; Joanne Traeger-Synodinos; Kyriaki Kekou; Giles Palmer; G Kokkali; Ariadni Mavrou; Sophia Kitsiou-Tzeli; Emmanuel Kanavakis
PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol.
Reproductive biomedicine online 2009;19(3):418-25.
2009: Marion Phylipsen; Antonio Amato; Maria Pia Cappabianca; Joanne Traeger-Synodinos; Emmanuel Kanavakis; Nazli Basak; Renzo Galanello; Teresa Tuveri; Giovanni Ivaldi; Cornelis L Harteveld; Piero C Giordano
Two new beta-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention.
Haematologica 2009;94(9):1289-92.
2009: Ioannis K Litos; Penelope C Ioannou; Theodore K Christopoulos; Jan Traeger-Synodinos; Emmanuel Kanavakis
Multianalyte, dipstick-type, nanoparticle-based DNA biosensor for visual genotyping of single-nucleotide polymorphisms.
Biosensors & bioelectronics 2009;24(10):3135-9.
2009: George Leventopoulos; Sophia Kitsiou-Tzeli; Konstantinos Kritikos; Stavroula Psoni; Ariadni Mavrou; Emmanuel Kanavakis; Helen Fryssira
A clinical study of Sotos syndrome patients with review of the literature.
Pediatric neurology 2009;40(5):357-64.
2009: Spyridon Megremis; Andromachi Mitsioni; Artemis G Mitsioni; Irene Fylaktou; Sophia Kitsiou-Tzeli; Constantinos Stefanidis; Emmanuel Kanavakis; Joanne Traeger-Synodinos
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.
Genetic testing and molecular biomarkers 2009;13(2):249-56.
2009: Amalia Sertedaki; Konstantinos Pantos; Christina Vrettou; Georgia Kokkali; Christina Christofidou; Emmanuel Kanavakis; Catherine Dacou-Voutetakis
Conception and pregnancy outcome in a patient with 11-bp deletion of the steroidogenic acute regulatory protein gene.
Fertility and sterility 2009;91(3):934.e15-8.
2009: Aspasia Tsezou; Maria Tzetis; Eirini Giannatou; Ierotheos Spanos; Eleutheria Roma; Alexandros Fretzayas; Emmanuel Kanavakis; Sophia Kitsiou-Tzeli
Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population.
Genetic testing and molecular biomarkers 2009;13(1):143-6.
2009: Carsten W Lederer; A Nazli Basak; Yesim Aydinok; Soteroula Christou; Amal El-Beshlawy; Androulla Eleftheriou; Slaheddine Fattoum; Alex Felice; Eitan Fibach; Renzo Galanello; Roberto Gambari; Lucian Gavrila; Piero C Giordano; Frank Grosveld; Helen (or Eleni) Hassapopoulou; Eva Hladka; Emmanuel Kanavakis; Franco Locatelli; John M Old; George P Patrinos; Giovanni Romeo; Ali Taher; Joanne Traeger-Synodinos; Panayiotis Vassiliou; Ana Villegas; Ersi Voskaridou; Henri Wajcman; Anastasios Zafeiropoulos; Marina Kleanthous
An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.
Hemoglobin 2009;33(3):163-76.
2009: Eleanna Giannatou; H Leze; A Katana; Aggeliki Kolialexi; Ariadni Mavrou; Emmanuel Kanavakis; Sophia Kitsiou-Tzeli
Unilateral microtia in an infant with trisomy 18 mosaicism.
Genetic counseling (Geneva, Switzerland) 2009;20(2):181-7.
2009: Panagiotis Douvaras; Dionisios G Antonatos; Kiriaki Kekou; Sotirios Patsilinakos; George Chouliaras; Christou H Apostolos; Anastasios Andrikou; Emmanuel Kanavakis
Association of VEGF gene polymorphisms with the development of heart failure in patients after myocardial infarction.
Cardiology 2009;114(1):11-8.
2009: Nina Manolaki; Georgia Nikolopoulou; George L Daikos; Eleni Panagiotakaki; Maria Tzetis; Eleftheria Roma; Emmanuel Kanavakis; Vassiliki Syriopoulou
Wilson disease in children: analysis of 57 cases.
Journal of pediatric gastroenterology and nutrition 2009;48(1):72-7.
2009: George Leventopoulos; Sophia Kitsiou-Tzeli; Stavroula Psoni; Ariadni Mavrou; Emmanuel Kanavakis; Patrick Willems; Helen Fryssira
Three novel mutations in greek sotos patients with rare clinical manifestations.
Hormone research 2009;71(1):45-51.
2008: Antonietta Zappu; Olympia Magli; Maria Barbara Lepori; Valentina Dessì; STEFANIA DIANA; Simona Incollu; Emmanuel Kanavakis; Polyxeni Nicolaidou; Nina Manolaki; Andreas Fretzayas; Stefano De Virgiliis; Antonio Cao; Georgios Loudianos
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
Journal of pediatric gastroenterology and nutrition 2008;47(3):334-8.
2008: Helen Fryssira; George Leventopoulos; Stavroula Psoni; Sophia Kitsiou-Tzeli; Nikolaos Stavrianeas; Emmanuel Kanavakis
Tumor development in three patients with Noonan syndrome.
European journal of pediatrics 2008;167(9):1025-31.
2008: C Sofocleous; Sophia Kitsiou-Tzeli; Helen Fryssira; Aggeliki Kolialexi; M Kalaitzidaki; Eleftheria Roma; George Th Tsangaris; C Chistofidou; Catherine Metaxotou; Emmanuel Kanavakis; Ariadni Mavrou
10 years' experience in fragile X testing among mentally retarded individuals in Greece: a molecular and epidemiological approach.
In vivo (Athens, Greece) 2008;22(4):451-5.
2008: Angeliki Galani; Sophia Kitsiou-Tzeli; Christalena Sofokleous; Emmanuel Kanavakis; Ariadni Kalpini-Mavrou
Androgen insensitivity syndrome: clinical features and molecular defects.
Hormones (Athens, Greece) 2008;7(3):217-29.
2008: Myrto Poulou; Marios Kaliakatsos; Aspasia Tsezou; Emmanuel Kanavakis; Konstantinos N Malizos; Maria Tzetis
Association of the CALM1 core promoter polymorphism with knee osteoarthritis in patients of Greek origin.
Genetic testing 2008;12(2):263-5.
2008: Alexandra C Iliadi; Penelope C Ioannou; Joanne Traeger-Synodinos; Emmanuel Kanavakis; Theodore K Christopoulos
High-throughput microtiter well-based bioluminometric genotyping of two single-nucleotide polymorphisms in the toll-like receptor-4 gene.
Analytical biochemistry 2008;376(2):235-41.
2008: Aspasia Tsezou; Maria Tzetis; Constantinos Gennatas; E Giannatou; A Pampanos; G Malamis; Emmanuel Kanavakis; Sophia Kitsiou-Tzeli
Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer.
Breast (Edinburgh, Scotland) 2008;17(2):159-66.
2008: Varvara Douna; Ioannis Papassotiriou; Alexandra Stamoulakatou; Anna Metaxotou-Mavrommati; Emmanuel Kanavakis; Joanne Traeger-Synodinos
Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family.
Hemoglobin 2008;32(6):592-5.
2008: Varvara Douna; Ioannis Papassotiriou; Anna Metaxotou-Mavrommati; Alexandra Stamoulakatou; Dimitra Liapi; Dimitrios Kampourakis; Amalia Tsilimigaki; Emmanuel Kanavakis; Joanne Traeger-Synodinos
Further identification of the hyperunstable alpha-globin chain variant Hb Heraklion [codons 36/37 (-CCC); Pro-->0 (alpha1)] in Greek cases with co-inherited alpha+-thalassemia mutations.
Hemoglobin 2008;32(4):379-85.
2008: Varvara Douna; Dimitra Liapi; Dimitrios Kampourakis; Zoe Repapinou; Ioannis Papassotiriou; Alexandra Stamoulakatou; Christos Poziopoulos; Emmanuel Kanavakis; Joanne Traeger-Synodinos
First observation of Hb Taybe [Codons 38/39 (-Acc) Thr-->0 (alpha1)] in Greece: clinical and hematological findings in patients with co-inherited alpha+-thalassemia mutations.
Hemoglobin 2008;32(4):371-8.
2008: Varvara Douna; Ioannis Papassotiriou; Anastasia Garoufi; Eleni Georgouli; Vassilis Ladis; Alexandra Stamoulakatou; Anna Metaxotou-Mavrommati; Emmanuel Kanavakis; Joanne Traeger-Synodinos
A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases.
Hemoglobin 2008;32(4):361-9.
2008: Joanne Traeger-Synodinos; Christina Vrettou; Emmanuel Kanavakis
Rapid detection of fetal Mendelian disorders: thalassemia and sickle cell syndromes.
Methods in molecular biology (Clifton, N.J.) 2008;444():133-45.
2008: Sophia Kitsiou-Tzeli; Carolina Sismani; George Koumbaris; Marios Ioannides; Emmanuel Kanavakis; Aggeliki Kolialexi; Ariadni Mavrou; Vassiliki Touliatou; Philippos C Patsalis
Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
European journal of medical genetics 2008;51(1):61-7.
2007: Aggeliki Kolialexi; Christina Vrettou; Joanne Traeger-Synodinos; R Burgemeister; Nikolaos Papantoniou; Emmanuel Kanavakis; Aris Antsaklis; Ariadni Mavrou
Noninvasive prenatal diagnosis of beta-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment.
Prenatal diagnosis 2007;27(13):1228-32.
2007: Nikolaos Vogiatzakis; Kyriaki Kekou; Christalena Sophocleous; Sophia Kitsiou-Tzeli; Ariadni Mavrou; Chrisa Bakoula; Emmanuel Kanavakis
Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.
Molecular biotechnology 2007;37(3):212-9.
2007: Athanasios Papatheodorou; Panagiota Latsi; Christina Vrettou; Aikaterini Dimakou; Alexia Chroneou; Periklis Makrythanasis; Marios Kaliakatsos; Dora Orfanidou; Charis Roussos; Emmanuel Kanavakis; Maria Tzetis
Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-alpha gene: their association with obstructive pulmonary disease in Greek patients.
Clinical biochemistry 2007;40(12):843-50.
2007: Maria Tzetis; Marios Kaliakatsos; Maria Fotoulaki; Athanasios Papatheodorou; Stavros Doudounakis; Aspasia Tsezou; P Makrythanasis; Emmanuel Kanavakis; Sanda Nousia-Arvanitakis
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.
Clinical genetics 2007;71(5):451-7.
2007: G Kokkali; Joanne Traeger-Synodinos; Christina Vrettou; Dimitrios Stavrou; Gayle M Jones; David S Cram; Evangelos Makrakis; Alan O Trounson; Emmanuel Kanavakis; Konstantinos Pantos
Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study.
Human reproduction (Oxford, England) 2007;22(5):1443-9.
2007: Aggeliki Kolialexi; George Th Tsangaris; A Anagnostopoulos; D Chondros; V Bagiokos; Sophia Kitsiou-Tzeli; Emmanuel Kanavakis; Ariadni Mavrou
Two-way trafficking of Annexin V positive cells between mother and fetus: determination of apoptosis at delivery.
Prenatal diagnosis 2007;27(4):348-51.
2007: Kyriaki Glynou; Petros Kastanis; Sotiria Boukouvala; Vassilis Tsaoussis; Penelope C Ioannou; Theodore K Christopoulos; Joanne Traeger-Synodinos; Emmanuel Kanavakis
High-throughput microtiter well-based chemiluminometric genotyping of 15 HBB gene mutations in a dry-reagent format.
Clinical chemistry 2007;53(3):384-91.
2007: Sophia Kitsiou-Tzeli; Eleanna Giannatou; I Spanos; Polyxeni Nicolaidou; Andreas Fretzayas; Maria Tzetis; Dimitrios Lazaris; Emmanuel Kanavakis; Aspasia Tsezou
Steroid hormones polymorphisms and cholelithiasis in Greek population.
Liver international : official journal of the International Association for the Study of the Liver 2007;27(1):61-8.
2007: Irene Stefanaki; Alexander J Stratigos; Gerasimos Dimisianos; Vassilios Nikolaou; Othon Papadopoulos; Dorothea Polydorou; Helen Gogas; Dimosthenis A Tsoutsos; Petros Panagiotou; Emmanuel Kanavakis; Christina Antoniou; andreas katsabas
p53 codon 72 Pro homozygosity increases the risk of cutaneous melanoma in individuals with dark skin complexion and among noncarriers of melanocortin 1 receptor red hair variants.
The British journal of dermatology 2007;156(2):357-62.
2007: Ioannis K Litos; Penelope C Ioannou; Theodore K Christopoulos; Joanne Traeger-Synodinos; Emmanuel Kanavakis
Genotyping of single-nucleotide polymorphisms by primer extension reaction in a dry-reagent dipstick format.
Analytical chemistry 2007;79(2):395-402.
2007: Vassiliki Touliatou; Ariadni Mavrou; Aggeliki Kolialexi; Emmanuel Kanavakis; Sophia Kitsiou-Tzeli
Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter.
Genetic counseling (Geneva, Switzerland) 2007;18(3):295-301.
2007: Aspasia Tsezou; Maria Tzetis; Eirini Giannatou; Constantinos Gennatas; Andreas Pampanos; Emmanuel Kanavakis; Sophia Kitsiou-Tzeli
Genetic polymorphisms in the UGT1A1 gene and breast cancer risk in Greek women.
Genetic testing 2007;11(3):303-6.
2007: Sophia Kitsiou-Tzeli; Carolina Sismani; Marios Ioannides; Stavros Bashiardes; Andria Ketoni; Vassiliki Touliatou; Aggeliki Kolialexi; Ariadni Mavrou; Emmanuel Kanavakis; Philippos C Patsalis
Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
European journal of medical genetics 2007;50(1):73-8.
2006: Ioannis G Fatouros; Aspasia Destouni; Konstantinos Margonis; Athanasios Jamurtas; Christina Vrettou; Demetrios Kouretas; George Mastorakos; Asimina Mitrakou; Kiriakos Taxildaris; Emmanuel Kanavakis; Ioannis Papassotiriou
Cell-free plasma DNA as a novel marker of aseptic inflammation severity related to exercise overtraining.
Clinical chemistry 2006;52(9):1820-4.
2006: Alexander J Stratigos; Gerasimos Dimisianos; Vassilios Nikolaou; Mirto Poulou; Vana Sypsa; Irene Stefanaki; Othon Papadopoulos; Dorothea Polydorou; Michaela Plaka; Eleftheria Christofidou; Helen Gogas; Dimosthenis A Tsoutsos; Ourania Castana; Christina Antoniou; Angelos Hatzakis; Emmanuel Kanavakis; andreas katsabas
Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.
The Journal of investigative dermatology 2006;126(8):1842-9.
2006: Marios Kaliakatsos; Maria Tzetis; Emmanuel Kanavakis; Pelagia Fytili; G Chouliaras; Theofilos Karachalios; Konstantinos N Malizos; Aspasia Tsezou
Asporin and knee osteoarthritis in patients of Greek origin.
Osteoarthritis and cartilage / OARS, Osteoarthritis Research Society 2006;14(6):609-11.
2006: Sofia K Leka; Sophia Kitsiou-Tzeli; Ariadni Kalpini-Mavrou; Emmanuel Kanavakis
Short stature and dysmorphology associated with defects in the SHOX gene.
Hormones (Athens, Greece) 2006;5(2):107-18.
2006: Panayotis G Zerefos; Penelope C Ioannou; Joanne Traeger-Synodinos; Gerasimos Dimissianos; Emmanuel Kanavakis; Theodore K Christopoulos
Photoprotein aequorin as a novel reporter for SNP genotyping by primer extension-application to the variants of mannose-binding lectin gene.
Human mutation 2006;27(3):279-85.
2006: Vassiliki Touliatou; Helen Fryssira; Ariadni Mavrou; Emmanuel Kanavakis; Sophia Kitsiou-Tzeli
Clinical manifestations in 17 Greek patients with Goldenhar syndrome.
Genetic counseling (Geneva, Switzerland) 2006;17(3):359-70.
2006: Ioannis Papassotiriou; Alexandra Stamoulakatou; Henri Wajcman; Jean Kister; Gerasimos Dimisianos; Christina Lazaropoulou; Ino Kanavaki; Efstathios Vavourakis; Antonios Kattamis; Emmanuel Kanavakis; Joanne Traeger-Synodinos
Observation of a rare hemoglobin variant [Hb Lulu island, beta107(G9)Gly-->Asp, GGC-->GAC] co-inherited with a beta+-thalassemia mutation [IVS-I-110 (G-->A)] or in the heterozygous state in a Greek-Albanian family.
Hemoglobin 2006;30(4):409-18.
2006: Sophia Kitsiou-Tzeli; Anna Papadopoulou; Christina Kanaka-Gantenbein; Andreas Fretzayas; Dimitris Daskalopoulos; Emmanuel Kanavakis; Polyxeni Nicolaidou
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?
Hormone research 2006;66(3):124-31.
2005: Elena Christoforou; Ioannis Papassotiriou; Christophille Skarmoutsou; Stavros Doudounakis; Alexandra Stamoulakatou; Emmanuel Kanavakis
Soluble transferrin receptors and tissue oxygenation in non anaemic cystic fibrosis patients.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2005;4(3):151-6.
2005: Aggeliki Kolialexi; George Th Tsangaris; Sophia Kitsiou-Tzeli; Emmanuel Kanavakis; Ariadni Mavrou
Impact of cytogenetic and molecular cytogenetic studies on hematologic malignancies.
Anticancer research 2005;25(4):2979-83.
2005: Ozgur Cogulu; Huseyin Onay; Funda Ozgenc; Emin Karaca; Cumhur Gunduz; Maria Tzetis; Tufan Cankaya; Emmanuel Kanavakis; Ferda Ozkinay
Trigonocephaly and Wilson's disease in two siblings.
Clinical dysmorphology 2005;14(3):161-4.
2005: G Kokkali; Christina Vrettou; Joanne Traeger-Synodinos; Gayle M Jones; David S Cram; Dimitrios Stavrou; Alan O Trounson; Emmanuel Kanavakis; Konstantinos Pantos
Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major.
Human reproduction (Oxford, England) 2005;20(7):1855-9.
2005: Alexandra Margeli; Katerina Skenderi; Maria Tsironi; Eugenia Hantzi; Antonia-Leda Matalas; Christina Vrettou; Emmanuel Kanavakis; George Chrousos; Ioannis Papassotiriou
Dramatic elevations of interleukin-6 and acute-phase reactants in athletes participating in the ultradistance foot race spartathlon: severe systemic inflammation and lipid and lipoprotein changes in protracted exercise.
The Journal of clinical endocrinology and metabolism 2005;90(7):3914-8.
2005: Styliani Amenta; Christalena Sofocleous; Aggeliki Kolialexi; Loretta Thomaidis; Sotiris Giouroukos; Emmanuel Karavitakis; Ariadni Mavrou; Sophia Kitsiou-Tzeli; Emmanuel Kanavakis; Helen Fryssira
Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population.
Pediatric research 2005;57(6):789-95.
2005: Ioannis Papassotiriou; Joanne Traeger-Synodinos; Michael C Marden; Jean Kister; Dimitra Liapi; Danielle Prome; Alexandra Stamoulakatou; Henri Wajcman; Emmanuel Kanavakis
The homozygous state for Hb Crete [beta129 (H7) Ala-->Pro] is associated with a complex phenotype including erythrocytosis and functional anemia.
Blood cells, molecules & diseases 2005;34(3):229-34.
2005: Ariadni Mavrou; Aggeliki Kolialexi; Athena P Souka; Athanasios Pilalis; Yannis Kavalakis; Panayiotis Antsaklis; Emmanuel Kanavakis; Aris Antsaklis
First-trimester NRBC count in maternal circulation: correlation with doppler ultrasound studies.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2005;53(3):315-7.
2005: Vasilios Ladis; George Chouliaras; Helen Berdousi; Emmanuel Kanavakis; Christos Kattamis
Longitudinal study of survival and causes of death in patients with thalassemia major in Greece.
Annals of the New York Academy of Sciences 2005;1054():445-50.
2004: Eleni Panagiotakaki; Maria Tzetis; Nina Manolaki; Georgios Loudianos; Athanasios Papatheodorou; Emmanuel Manesis; Sanda Nousia-Arvanitakis; Vassiliki Syriopoulou; Emmanuel Kanavakis
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
American journal of medical genetics. Part A 2004;131(2):168-73.
2004: Sophia Kitsiou-Tzeli; Aggeliki Kolialexi; Helen Fryssira; Angeliki Galla-Voumvouraki; Katerina Salavoura; Maria Kanariou; George Th Tsangaris; Emmanuel Kanavakis; Ariadni Mavrou
Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
In vivo (Athens, Greece) 2004;18(5):603-8.
2004: Emmanuel Kavazarakis; Stella Stabouli; Dimitrios Gourgiotis; Katerina Roumeliotou; Joanne Traeger-Synodinos; Apostolos Bossios; Andreas Fretzayas; Emmanuel Kanavakis
Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
European journal of pediatrics 2004;163(8):462-6.
2004: Antonis Kattamis; Evangelia Lagona; Irini Orfanou; Fotini Psichou; Vasilios Ladis; Emmanuel Kanavakis; Anna Metaxotou-Mavrommati; Christos Kattamis
Clinical response and adverse events in young patients with sickle cell disease treated with hydroxyurea.
Pediatric hematology and oncology 2004;21(4):335-42.
2004: Kathryn J Swoboda; Emmanuel Kanavakis; Athina Xaidara; Justine E Johnson; Mark F Leppert; Mylynda B Schlesinger-Massart; Louis J Ptacek; Kenneth Silver; Sotiris Youroukos
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.
Annals of neurology 2004;55(6):884-7.
2004: Gerasimos Dimisianos; Joanne Traeger-Synodinos; Christina Vrettou; Ioannis Papassotiriou; Emmanuel Kanavakis
A rare 33 bp in-frame deletion (alpha63-74 or alpha64-74 or alpha65-75) in the alpha1-globin gene causing alpha(+)-thalassemia: a second observation.
Hemoglobin 2004;28(2):137-43.
2004: Christina Vrettou; Joanne Traeger-Synodinos; Maria Tzetis; Giles Palmer; Christalena Sofocleous; Emmanuel Kanavakis
Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.
Human mutation 2004;23(5):513-21.
2004: C Karagianni; Stella Stabouli; K Roumeliotou; Joanne Traeger-Synodinos; Emmanuel Kavazarakis; Dimitrios Gourgiotis; J Lambrou; Emmanuel Kanavakis
Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study.
Diabetic medicine : a journal of the British Diabetic Association 2004;21(4):380-2.
2004: Emmanuel Kanavakis; Joanne Traeger-Synodinos; Stelios Lafioniatis; Christina Lazaropoulou; Theodota Liakopoulou; George Paleologos; Anna Metaxotou-Mavrommati; Alexandra Stamoulakatou; Ioannis Papassotiriou
A rare example that coinheritance of a severe form of beta-thalassemia and alpha-thalassemia interact in a "synergistic" manner to balance the phenotype of classic thalassemic syndromes.
Blood cells, molecules & diseases 2004;32(2):319-24.
2004: Isabel Carvalho-Oliveira; Alexandra Efthymiadou; Rui Malhó; Paulo Nogueira; Maria Tzetis; Emmanuel Kanavakis; Margarida D Amaral; Deborah Penque
CFTR localization in native airway cells and cell lines expressing wild-type or F508del-CFTR by a panel of different antibodies.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2004;52(2):193-203.
2004: Danijela Radivojevic; Marina Djurisic; Tanja Lalic; Marija Guc-Scekic; Jovan Savic; Predrag Minic; Thalia Antoniadi; Maria Tzetis; Emmanuel Kanavakis
Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis.
Genetic testing 2004;8(3):276-80.
2004: Alexandra Stamoulakatou; Miranda Athanasiou-Metaxa; Joanne Traeger-Synodinos; Christina Lazaropoulou; Kees Harteveld; Evangelos Premetis; Haido Tsantali; Amine Zorai; Piero Giordano; Ioannis Papassotiriou; Emmanuel Kanavakis
Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management.
Blood cells, molecules & diseases 2004;32(1):118-23.
2004: Joshua D Groman; Timothy W Hefferon; Teresa Casals; Lluís Bassas; Xavier Estivill; Marie Des Georges; Caroline Guittard; Monika Koudova; MARGARET D FALLIN; Krisztina Nemeth; Gyorgy Fekete; Ludovit Kadasi; Kenneth Friedman; Martin Schwarz; Cristina Bombieri; Pier Franco Pignatti; Emmanuel Kanavakis; Maria Tzetis; Marianne Schwartz; Giuseppe Novelli; Maria Rosaria D'Apice; Agnieszka Sobczynska-Tomaszewska; Jerzy Bal; Manfred Stuhrmann; Milan Macek Jr.; Mireille Claustres; Garry R Cutting
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
American journal of human genetics 2004;74(1):176-9.
2003: Emmanuel Kanavakis; Athina Xaidara; Dimitra Papathanasiou-Klontza; Alexandros Papadimitriou; Stavroula Velentza; Sotiris Youroukos
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.
Developmental medicine and child neurology 2003;45(12):833-6.
2003: Sophia Kitsiou-Tzeli; Emmanuel Kanavakis; Maria Tzetis; Emmanuel Kavazarakis; Angeliki Galla; Aspasia Tsezou
Gilbert's syndrome as a predisposing factor for idiopathic cholelithiasis in children.
Haematologica 2003;88(10):1193-4.
2003: Christophille Skarmoutsou; Ioannis Papassotiriou; Joanne Traeger-Synodinos; Helene Stamou; Vasilios Ladis; Anna Metaxotou-Mavrommati; Alexandra Stamoulakatou; Emmanuel Kanavakis
Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A(2) levels.
Haematologica 2003;88(6):631-6.
2003: Franco Pagani; Cristiana Stuani; Maria Tzetis; Emmanuel Kanavakis; Alexandra Efthymiadou; Stavros Doudounakis; Teresa Casals; Francisco E Baralle
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.
Human molecular genetics 2003;12(10):1111-20.
2003: Emmanuel Kanavakis; Alexandra Efthymiadou; S Strofalis; Stavros Doudounakis; Joanne Traeger-Synodinos; Maria Tzetis
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.
Clinical genetics 2003;63(5):400-9.
2003: Joanne Traeger-Synodinos; Christina Vrettou; Giles Palmer; Maria Tzetis; Minas Mastrominas; Stephen Davies; Emmanuel Kanavakis
An evaluation of PGD in clinical genetic services through 3 years application for prevention of beta-thalassaemia major and sickle cell thalassaemia.
Molecular human reproduction 2003;9(5):301-7.
2003: Christina Vrettou; Joanne Traeger-Synodinos; Maria Tzetis; George Malamis; Emmanuel Kanavakis
Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes.
Clinical chemistry 2003;49(5):769-76.
2002: Joanne Traeger-Synodinos; Ioannis Papassotiriou; Markisia Karagiorga; Evangelos Premetis; Emmanuel Kanavakis; Alexandra Stamoulakatou
Unusual phenotypic observations associated with a rare HbH disease genotype (- -Med/alphaTSaudialpha): implications for clinical management.
British journal of haematology 2002;119(1):265-7.
2002: Georgios Loudianos; Mario Lovicu; Valeria Dessi; Maria Tzetis; Emmanuel Kanavakis; Lucia Zancan; L Zelante; C Galvèz-Galvèz; Antonio Cao
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
Human mutation 2002;20(4):260-6.
2002: Christina Vrettou; Maria Tzetis; Joanne Traeger-Synodinos; Giles Palmer; Emmanuel Kanavakis
Multiplex sequence variation detection throughout the CFTR gene appropriate for preimplantation genetic diagnosis in populations with heterogeneity of cystic fibrosis mutations.
Molecular human reproduction 2002;8(9):880-6.
2002: Emmanuel Kanavakis; Joanne Traeger-Synodinos
Preimplantation genetic diagnosis in clinical practice.
Journal of medical genetics 2002;39(1):6-11.
2002: G A Palmer; Joanne Traeger-Synodinos; S Davies; Maria Tzetis; Christina Vrettou; Minas Mastrominas; Emmanuel Kanavakis
Pregnancies following blastocyst stage transfer in PGD cycles at risk for beta-thalassaemic haemoglobinopathies.
Human reproduction (Oxford, England) 2002;17(1):25-31.
2001: Maria Tzetis; Alexandra Efthymiadou; Stavros Doudounakis; Emmanuel Kanavakis
Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
Human genetics 2001;109(6):592-601.
2001: Maria Tzetis; Emmanuel Kanavakis; Aspasia Tsezou; Vasilios Ladis; E Pateraki; Theano P Georgakopoulou; Emmanuel Kavazarakis; E Maragoudaki; Themistocles Karpathios; Sophia Kitsiou-Tzeli
Gilbert syndrome associated with beta-thalassemia.
Pediatric hematology and oncology 2001;18(8):477-84.
2001: Joanne Traeger-Synodinos; Ioannis Papassotiriou; Christina Vrettou; Christophille Skarmoutsou; Alexandra Stamoulakatou; Emmanuel Kanavakis
Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional a-globin and beta-globin gene.
Haematologica 2001;86(4):363-7.
2001: Maria Tzetis; Alexandra Efthymiadou; S Strofalis; P Psychou; A Dimakou; Evi Pouliou; Stavros Doudounakis; Emmanuel Kanavakis
CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease.
Human genetics 2001;108(3):216-21.
2001: Ioannis Papassotiriou; Joanne Traeger-Synodinos; Danielle Promé; Jean Kister; Christina Vrettou; Athina Xaidara; Michael C Marden; Alexandra Stamoulakatou; Henri Wajcman; Emmanuel Kanavakis
Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface.
Hemoglobin 2001;25(1):45-56.
2001: Cornelis L Harteveld; Joanne Traeger-Synodinos; Angela Ragusa; Marco Fichera; Emmanuel Kanavakis; Christos Kattamis; P Giordano; G Schilirò; Luigi F Bernini
Different geographic origins of Hb Constant Spring [alpha(2) codon 142 TAA-->CAA].
Haematologica 2001;86(1):36-8.
2000: Emmanuel Kanavakis; Ioannis Papassotiriou; Markisia Karagiorga; Christina Vrettou; Anna Metaxotou-Mavrommati; Alexandra Stamoulakatou; Christos Kattamis; Joanne Traeger-Synodinos
Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience.
British journal of haematology 2000;111(3):915-23.
2000: Emmanuel Kavazarakis; Aspasia Tsezou; Maria Tzetis; A Hadjidimoula; Sophia Kitsiou-Tzeli; Emmanuel Kanavakis; Themistocles Karpathios
Gilbert syndrome: analysis of the promoter region of the uridine diphosphate-glucuronosyltransferase 1 gene in the Greek population.
European journal of pediatrics 2000;159(11):873-4.
2000: Joanne Traeger-Synodinos; Ioannis Papassotiriou; Anna Metaxotou-Mavrommati; Christina Vrettou; Alexandra Stamoulakatou; Emmanuel Kanavakis
Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.
Blood cells, molecules & diseases 2000;26(4):276-84.
2000: Christina Vrettou; Emmanuel Kanavakis; Joanne Traeger-Synodinos; Anna Metaxotou-Mavrommati; I Basiakos; E Maragoudaki; Alexandra Stamoulakatou; Ioannis Papassotiriou; Christos Kattamis
Molecular studies of beta-thalassemia heterozygotes with raised Hb F levels.
Hemoglobin 2000;24(3):203-20.
2000: Aspasia Tsezou; Maria Tzetis; Sophia Kitsiou-Tzeli; Emmanuel Kavazarakis; Angeliki Galla; Emmanuel Kanavakis
A Caucasian boy with Gilbert's syndrome heterozygous for the (TA)(8) allele.
Haematologica 2000;85(3):319.
2000: Georgios Loudianos; Mario Lovicu; P Solinas; Emmanuel Kanavakis; Maria Tzetis; Nina Manolaki; E Panagiotakaki; Themistocles Karpathios; Antonio Cao
Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
Genetic testing 2000;4(4):399-402.
1999: Emmanuel Kanavakis; Christina Vrettou; Giles Palmer; Maria Tzetis; Minas Mastrominas; Joanne Traeger-Synodinos
Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies.
Prenatal diagnosis 1999;19(13):1217-22.
1999: Christina Vrettou; Giles Palmer; Emmanuel Kanavakis; Maria Tzetis; Thalia Antoniadi; Minas Mastrominas; Joanne Traeger-Synodinos
A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis.
Prenatal diagnosis 1999;19(13):1209-16.
1999: E Maragoudaki; Emmanuel Kanavakis; Joanne Traeger-Synodinos; Christina Vrettou; Maria Tzetis; Anna Metaxotou-Mavrommati; Christos Kattamis
Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes.
British journal of haematology 1999;107(4):699-706.
1999: Joanne Traeger-Synodinos; Anna Metaxotou-Mavrommati; Markisia Karagiorga; Christina Vrettou; Ioannis Papassotiriou; Alexandra Stamoulakatou; Emmanuel Kanavakis
Interaction of an alpha(+)-thalassemia deletion with either a highly unstable alpha-globin variant (alpha2, codon 59, GGC-->GAC) or a nondeletional alpha-thalassemia mutation (AATAAA-->AATAAG): comparison of phenotypes illustrating "dominant" alpha-thalassemia.
Hemoglobin 1999;23(4):325-37.
1999: Joanne Traeger-Synodinos; Cornelis L Harteveld; Emmanuel Kanavakis; Piero C Giordano; Christos Kattamis; Luigi F Bernini
Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia.
Hemoglobin 1999;23(4):317-24.
1999: Ioannis Papassotiriou; Joanne Traeger-Synodinos; Danielle Promé; Jean Kister; E Stamou; Theodota Liakopoulou; Alexandra Stamoulakatou; Emmanuel Kanavakis; Henri Wajcman
Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala --> Thr].
American journal of hematology 1999;62(3):186-92.
1999: Ioannis Papassotiriou; Joanne Traeger-Synodinos; C Vlachou; Markisia Karagiorga; A Metaxotou; Emmanuel Kanavakis; Alexandra Stamoulakatou
Rapid and accurate quantitation of Hb Bart's and Hb H using weak cation exchange high performance liquid chromatography: correlation with the alpha-thalassemia genotype.
Hemoglobin 1999;23(3):203-11.
1999: Athina Xaidara; Talia Kakourou; D Klontza; A Flemetakis; Emmanuel Kanavakis
Cutaneous leishmaniasis: response to cryotherapy treatment.
European journal of pediatrics 1999;158(6):530.
1998: Ioannis Papassotiriou; Joanne Traeger-Synodinos; Emmanuel Kanavakis; Markisia Karagiorga; Alexandra Stamoulakatou; Christos Kattamis
Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease.
Journal of pediatric hematology/oncology 1998;20(6):539-44.
1998: E Maragoudaki; Christina Vrettou; Emmanuel Kanavakis; Joanne Traeger-Synodinos; Anna Metaxotou-Mavrommati; Christos Kattamis
Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3' to the termination codon (+1480 C-->G) in twelve Greek families.
British journal of haematology 1998;103(1):45-51.
1998: Georgios Loudianos; Valeria Dessì; Mario Lovicu; Andrea Angius; Emmanuel Kanavakis; Maria Tzetis; Christos Kattamis; Nina Manolaki; G Vassiliki; Themistocles Karpathios; Antonio Cao; Mario Pirastu
Haplotype and mutation analysis in Greek patients with Wilson disease.
European journal of human genetics : EJHG 1998;6(5):487-91.
1998: Ioannis Papassotiriou; Jean Kister; Nathalie Griffon; Donald J Abraham; Emmanuel Kanavakis; Joanne Traeger-Synodinos; Alexandra Stamoulakatou; Michael C Marden; Claude Poyart
Synthesized allosteric effectors of the hemoglobin molecule: a possible mechanism for improved erythrocyte oxygen release capability in hemoglobinopathy H disease.
Experimental hematology 1998;26(10):922-6.
1998: Joanne Traeger-Synodinos; A Metaxotou-Mavromati; Emmanuel Kanavakis; Christina Vrettou; Ioannis Papassotiriou; T Michael; Christos Kattamis
An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant.
Hemoglobin 1998;22(3):209-15.
1998: Emmanuel Kanavakis; Maria Tzetis; Thalia Antoniadi; G Pistofidis; S Milligos; Christos Kattamis
Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia.
Molecular human reproduction 1998;4(4):333-7.
1998: Joanne Traeger-Synodinos; N Mavroidis; Emmanuel Kanavakis; Euridiki Drogari; SE Humphries; I N Day; Christos Kattamis; Nikolaos Matsaniotis
Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands.
Human genetics 1998;102(3):343-7.
1998: Joanne Traeger-Synodinos; E Maragoudaki; Christina Vrettou; Emmanuel Kanavakis; Christos Kattamis
Rare beta-thalassemia alleles in the Greek and Greek Cypriot populations.
Hemoglobin 1998;22(1):89-94.
1997: Ioannis Papassotiriou; Emmanuel Kanavakis; Alexandra Stamoulakatou; Christos Kattamis
Tissue oxygenation in patients with hemoglobinopathy H.
Pediatric hematology and oncology 1997;14(4):323-34.
1997: Emmanuel Kanavakis; Joanne Traeger-Synodinos; Christina Vrettou; E Maragoudaki; Maria Tzetis; Christos Kattamis
Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods.
Molecular human reproduction 1997;3(6):523-8.
1997: N Mavroidis; Joanne Traeger-Synodinos; Emmanuel Kanavakis; Euridiki Drogari; Nikolaos Matsaniotis; SE Humphries; I N Day; Christos Kattamis
A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.
Human mutation 1997;9(3):274-6.
1997: Maria Tzetis; Emmanuel Kanavakis; Thalia Antoniadi; Stavros Doudounakis; G Adam; Christos Kattamis
Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.
Human genetics 1997;99(1):121-5.
1996: Joanne Traeger-Synodinos; Emmanuel Kanavakis; Christina Vrettou; E Maragoudaki; T Michael; A Metaxotou-Mavromati; Christos Kattamis
The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies.
British journal of haematology 1996;95(3):467-71.
1996: Emmanuel Kanavakis; Joanne Traeger-Synodinos; IOANNIS PAPASOTIRIOU; Christina Vrettou; A Metaxotou-Mavromati; Alexandra Stamoulakatou; E Lagona; Christos Kattamis
The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H.
British journal of haematology 1996;92(2):332-5.
1995: Emmanuel Kanavakis; Maria Tzetis; Thalia Antoniadi; Joanne Traeger-Synodinos; S Doudounakis; G Adam; Nikolaos Matsaniotis; Christos Kattamis
Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.
Human genetics 1995;96(3):364-6.
1995: Maria Tzetis; Emmanuel Kanavakis; Thalia Antoniadi; Joanne Traeger-Synodinos; S Doudounakis; G Adam; Christos Kattamis
Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients.
Molecular and cellular probes 1995;9(4):283-5.
1995: Emmanuel Kanavakis; Maria Tzetis; Thalia Antoniadi; J Trager-Synodinos; Christos Kattamis; S Doudounakis; G Adam
Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation.
Journal of medical genetics 1995;32(5):406-7.
1995: Emmanuel Kanavakis; Joanne Traeger-Synodinos; Maria Tzetis; A Metaxotou-Mavromati; Vasilios Ladis; Christos Kattamis
Molecular characterization of homozygous (high HbA2) beta-thalassemia intermedia in Greece.
Pediatric hematology and oncology 1995;12(1):37-45.
1994: Joanne Traeger-Synodinos; Emmanuel Kanavakis; M Kalogerakou; K Soulpi; S Missiou-Tsangaraki; Christos Kattamis
Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients.
Human genetics 1994;94(5):573-5.
1994: L Stefanis; Emmanuel Kanavakis; Joanne Traeger-Synodinos; Maria Tzetis; A Metaxotou-Mavromati; Christos Kattamis
Hematologic phenotype of the mutations IVS1-n6 (T-->C), IVS1-n110 (G-->A), and CD39 (C-->T) in carriers of beta-thalassemia in Greece.
Pediatric hematology and oncology 1994;11(5):509-17.
1994: Maria Tzetis; Joanne Traeger-Synodinos; Emmanuel Kanavakis; A Metaxotou-Mavromati; Christos Kattamis
The molecular basis of normal HbA2 (type 2) beta-thalassemia in Greece.
Hematologic pathology 1994;8(1-2):25-34.
1993: Joanne Traeger-Synodinos; Emmanuel Kanavakis; Maria Tzetis; Antonis Kattamis; Christos Kattamis
Characterization of nondeletion alpha-thalassemia mutations in the Greek population.
American journal of hematology 1993;44(3):162-7.
1993: Georgina W Hall; Swee Lay Thein; A C Newland; M Chisholm; Joanne Traeger-Synodinos; Emmanuel Kanavakis; Christos Kattamis; Douglas R Higgs
A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.
British journal of haematology 1993;85(3):546-52.
1991: Joanne Traeger-Synodinos; Maria Tzetis; Emmanuel Kanavakis; A Metaxotou-Mavromati; Christos Kattamis
The Corfu delta beta thalassaemia mutation in Greece: haematological phenotype and prevalence.
British journal of haematology 1991;79(2):302-5.
1991: Georgios Loudianos; S Murru; Emmanuel Kanavakis; A Metaxotou-Mavromati; D Theodoropoulou; Christos Kattamis; Antonio Cao; Mario Pirastu
A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 Arg----Cys (G18), detected by delta-globin gene analysis in a Greek family.
Human genetics 1991;87(2):237-8.
1988: A Metaxotou-Mavromati; Christos Kattamis; L Matathia; Maria Tzetis; Emmanuel Kanavakis
Clinical, haematological, and genetic studies of type 2 normal Hb A2 beta thalassaemia.
Journal of medical genetics 1988;25(3):195-9.
1988: Christos Kattamis; S Tzotzos; Emmanuel Kanavakis; J Synodinos; Anna Metaxotou-Mavrommati
Correlation of clinical phenotype to genotype in haemoglobin H disease.
Lancet 1988;1(8583):442-4.
1988: Emmanuel Kanavakis; S Tzotzos; K Liapaki; A Metaxotou-Mavromati; Christos Kattamis
Molecular basis and prevalence of alpha-thalassemia in Greece.
Birth defects original article series 1988;23(5B):377-80.
1987: Christos Kattamis; A Metaxotou-Mavromati; A Mitsioni; Emmanuel Kanavakis
Clinical and hematologic phenotype of homozygous beta+ (high A2)-thalassemia with low Hb F.
Birth defects original article series 1987;23(5A):303-7.
1986: Emmanuel Kanavakis; S Tzotzos; A Liapaki; A Metaxotou-Mavromati; Christos Kattamis
Frequency of alpha-thalassemia in Greece.
American journal of hematology 1986;22(3):225-32.
1986: S Tzotzos; Emmanuel Kanavakis; A Metaxotou-Mavromati; Christos Kattamis
The molecular basis of HbH disease in Greece.
British journal of haematology 1986;63(2):263-71.
1985: J S Wainscoat; S L Thein; W G Wood; D J Weatherall; A Metaxotou-Mavromati; S Tzotos; Emmanuel Kanavakis; Christos Kattamis
A novel deletion in the beta-globin gene complex.
Annals of the New York Academy of Sciences 1985;445():20-7.
1983: Emmanuel Kanavakis; A Metaxotou-Mavromati; Christos Kattamis; J S Wainscoat; W G Wood
The triplicated alpha gene locus and beta thalassaemia.
British journal of haematology 1983;54(2):201-7.
1982: Christos Kattamis; A Metaxotou-Mavromati; Vasilios Ladis; H Tsiarta; S Laskari; Emmanuel Kanavakis
The clinical phenotype of beta and delta beta thalassemias in Greece.
European journal of pediatrics 1982;139(2):135-8.
1982: Emmanuel Kanavakis; A Metaxotou-Mavromati; Christos Kattamis; M Aksoy; D J Weatherall; W G Wood
Globin gene mapping in normal Hb A2 types of beta-thalassaemia.
British journal of haematology 1982;51(1):59-64.