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Genetics

D-Index
43
Citations
7103
World Ranking
4292
National Ranking
7

Overview

Emmanuel Kanavakis is affiliated with the National and Kapodistrian University of Athens in Greece. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with notable subfields including Pediatrics, Perinatology and Child Health, Genetics, Molecular Biology, Public Health, Environmental and Occupational Health, and Immunology.

The scientist's work covers a range of main topics related to reproductive health and genetics. These topics include:

  • Prenatal Screening and Diagnostics
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Reproductive Biology and Fertility
  • Reproductive System and Pregnancy
  • Assisted Reproductive Technology and Twin Pregnancy
  • Sexual Differentiation and Disorders
  • Animal Genetics and Reproduction

Emmanuel Kanavakis has contributed to several research papers published in various scientific venues. Some of the recent publications include:

  • The impact of maternal age on gene expression during the GV to MII transition in euploid human oocytes, 2021, Human Reproduction
  • The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients, 2022, Journal of Assisted Reproduction and Genetics
  • Female Reproductive Ageing and Chromosomal Abnormalities in a Large Series of Women Undergoing IVF, 2021, Cytogenetic and Genome Research
  • Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH, 2020, Molecular Syndromology
  • Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF, 2020, In Vivo

The scientist frequently publishes in venues such as:

  • Cytogenetic and Genome Research
  • European Journal of Obstetrics & Gynecology and Reproductive Biology
  • Human Reproduction
  • Journal of Assisted Reproduction and Genetics
  • Molecular Syndromology

Collaboration is a significant part of Emmanuel Kanavakis's research activities. Frequent co-authors include:

  • Ariadni Mavrou
  • Amelia Pantou
  • Elisavet Kouvidi
  • Sophia Zachaki
  • Leandros Lazaros

Best Publications

  • Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes

    J. Claiborne Stephens;David E. Reich;David B. Goldstein;Hyoung Doo Shin

  • Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

    Joshua D. Groman;Timothy W. Hefferon;Teresa Casals;Lluís Bassas

  • New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12

    Franco Pagani;Cristiana Stuani;Maria Tzetis;Emmanuel Kanavakis

  • Androgen insensitivity syndrome: clinical features and molecular defects.

    Angeliki Galani;Sophia Kitsiou-Tzeli;Christalena Sofokleous;Emmanuel Kanavakis

  • Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

    Kathryn J. Swoboda;Emmanuel Kanavakis;Athina Xaidara;Justine E. Johnson

  • Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

    Belinda Giardine;Joseph Borg;Joseph Borg;Douglas R Higgs;Kenneth R Peterson

  • Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

    T. Dörk;M. Macek;F. Mekus;B. Tümmler

  • Rapid Screening of Multiple β-Globin Gene Mutations by Real-Time PCR on the LightCycler: Application to Carrier Screening and Prenatal Diagnosis of Thalassemia Syndromes

    Christina Vrettou;Joanne Traeger-Synodinos;Maria Tzetis;George Malamis

  • Thalassaemia intermedia in Cyprus: the interaction of α and β thalassaemia

    J. S. Wainscoat;E. Kanavakis;W. G. Wood;E. A. Letsky

  • Genotype–phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)

    Eleni Panagiotakaki;Maria Tzetis;Nina Manolaki;Giorgos Loudianos

  • Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemia.

    J S Wainscoat;E Kanavakis;W G Wood;E A Letsky

  • The triplicated α-globin gene locus in β-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies

    J. Traeger-Synodinos;E. Kanavakis;C. Vrettou;E. Maragoudaki

  • The interaction of alpha thalassaemia with heterozygous beta thalassaemia.

    E. Kanavakis;J. S. Wainscoat;W. G. Wood;D. J. Weatherall

  • 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

    Christina Vrettou;Joanne Traeger-Synodinos;Maria Tzetis;Giles Palmer

  • A clinical study of Sotos syndrome patients with review of the literature.

    George Leventopoulos;Sophia Kitsiou-Tzeli;Konstantinos Kritikos;Stavroula Psoni

  • Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome

    Evgenios Goussetis;Ioulia Peristeri;Vasiliki Kitra;Joanne Traeger-Synodinos

  • Preimplantation genetic diagnosis in 10 couples at risk for transmitting β‐thalassaemia major: clinical experience including the initiation of six singleton pregnancies

    Emmanuel Kanavakis;Christina Vrettou;Giles Palmer;Maria Tzetis

  • Genotyping of single-nucleotide polymorphisms by primer extension reaction in a dry-reagent dipstick format.

    Ioannis K Litos;Penelope C Ioannou;Theodore K Christopoulos;Joanne Traeger-Synodinos

  • The triplicated alpha gene locus and beta thalassaemia.

    Kanavakis E;Metaxotou-Mavromati A;Kattamis C;Wainscoat Js

  • A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.

    Georgina W. Hall;Swee Lay Thein;Adrian C. Newland;Morag Chisholm

Frequent Co-Authors

David J. Weatherall
David J. Weatherall University of Oxford
William G. Wood
William G. Wood University of Oxford
Antonio Cao
Antonio Cao University of Cagliari
Renzo Galanello
Renzo Galanello University of Cagliari
Charis Roussos
Charis Roussos National and Kapodistrian University of Athens
Milan Macek
Milan Macek Charles University
Manfred Stuhrmann
Manfred Stuhrmann Hannover Medical School
George P. Chrousos
George P. Chrousos National and Kapodistrian University of Athens
Thilo Dörk
Thilo Dörk Hannover Medical School

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