E
Emmanuel Kanavakis
Researcher at National and Kapodistrian University of Athens
Publications - 181
Citations - 5385
Emmanuel Kanavakis is an academic researcher from National and Kapodistrian University of Athens. The author has contributed to research in topics: Genotype & Preimplantation genetic diagnosis. The author has an hindex of 38, co-authored 175 publications receiving 5052 citations. Previous affiliations of Emmanuel Kanavakis include John Radcliffe Hospital & Athens State University.
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Journal ArticleDOI
Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes
J. Claiborne Stephens,David Reich,David Goldstein,Hyoung Doo Shin,Michael W. Smith,Mary Carrington,Cheryl A. Winkler,Gavin A. Huttley,Rando Allikmets,Lynn M. Schriml,Bernard Gerrard,Michael Malasky,Maria D. Ramos,Susanne Morlot,Maria Tzetis,Carole Oddoux,Francesco S. di Giovine,Georgios Nasioulas,David Chandler,Michael Aseev,Matthew Hanson,Luba Kalaydjieva,Damjan Glavač,Paolo Gasparini,Emmanuel Kanavakis,Mireille Claustres,Marios Kambouris,Harry Ostrer,Gordon W. Duff,Vladislav S Baranov,Hiljar Sibul,Andres Metspalu,David Goldman,Nicholas G. Martin,David L. Duffy,Jörg Schmidtke,Xavier Estivill,Stephen J. O'Brien,Michael Dean +38 more
TL;DR: The geographic cline of CCR5-Delta32 frequencies and its recent emergence are consistent with a historic strong selective event, driving its frequency upward in ancestral Caucasian populations.
Journal ArticleDOI
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,Xavier Estivill,Marie des Georges,Caroline Guittard,Monika Koudova,M. Daniele Fallin,Krisztina Németh,György Fekete,Ludovit Kadasi,Ken Friedman,Martin Schwarz,Cristina Bombieri,Pier Franco Pignatti,Emmanuel Kanavakis,Maria Tzetis,Marianne Schwartz,Giuseppe Novelli,Maria Rosaria D'Apice,Agnieszka Sobczyńska-Tomaszewska,Jerzy Bal,Manfred Stuhrmann,Milan Macek,Mireille Claustres,Garry R. Cutting +26 more
TL;DR: In this article, the number of TG repeats adjacent to 5T influences disease penetrance, and the authors determined TG repeat number in 98 patients with male infertility due to congenital absence of the vas deferens, 9 patients with nonclassic CF, and 27 unaffected individuals (fertile men).
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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,Alexandra Efthymiadou,Stavros Doudounakis,Teresa Casals,Francisco E. Baralle +7 more
TL;DR: The results indicate that even the most benign looking polymorphism in an exon cannot be ignored as it may affect the splicing process, and appropriate functional splicing assays should be included in genotype screenings to distinguish between polymorphisms and pathogenic mutations.
Journal ArticleDOI
Androgen insensitivity syndrome: clinical features and molecular defects.
Angeliki Galani,Sophia Kitsiou-Tzeli,Christalena Sofokleous,Emmanuel Kanavakis,Ariadni Kalpini-Mavrou +4 more
TL;DR: This review focuses on the clinical features and molecular pathophysiology of AIS and explores the relationship of the molecular defects in the AR gene to their clinical expression.
Journal ArticleDOI
Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation
Kathryn J. Swoboda,Emmanuel Kanavakis,Athina Xaidara,Justine E. Johnson,Mark Leppert,Mylynda Schlesinger-Massart,Louis J. Ptáček,Kenneth Silver,Sotiris Youroukos +8 more
TL;DR: A novel ATP1A2 mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes are reported, supporting a possible common pathogenesis in a subset of such cases.