Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH

Por Mitrakos, Anastasios, Lazaros, Leandros, Pantou, Amelia, Mavrou, Ariadni, Kanavakis, Emmanuel, Tzetis, Maria
Publicado no Mol Syndromol (2020)

Asthma and Pulmonary Function Abnormalities in Heterozygotes for Cystic Fibrosis Transmembrane Regulator Gene Mutations

Por Douros, Konstantinos, Loukou, Ioanna, Doudounakis, Stavros, Tzetis, Maria, Priftis, Kostas N., Kanavakis, Emmanuel
Publicado em 2008

Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis

Por Tounta, Georgia, Kolialexi, Aggeliki, Papantoniou, Nikolas, Tsangaris, George Th., Kanavakis, Emmanuel, Mavrou, Ariadni
Publicado em 2011

Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases

Por Tsipi, Maria, Tzetis, Maria, Kosma, Konstantina, Moschos, Marilita, Braoudaki, Maria, Poulou, Myrto, Kanavakis, Emmanuel, Kitsiou-Tzeli, Sofia
Publicado no Meta Gene (2016)

BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients

Por Delaveri, Aikaterini, Rapti, Aggeliki, Poulou, Myrto, Fylaktou, Eirini, Tsipi, Maria, Roussos, Charis, Makrythanasis, Periklis, Kanavakis, Emmanuel, Tzetis, Maria
Publicado no Meta Gene (2014)

Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF

Por ZACHAKI, SOPHIA, KOUVIDI, ELISAVET, PANTOU, AMELIA, TSAROUHA, HAROULA, MITRAKOS, ANASTASIOS, TOUNTA, GEORGIA, CHARALAMPOUS, IOANNA, MANOLA, KALLIOPI N., KANAVAKIS, EMMANUEL, MAVROU, ARIADNI
Publicado no In Vivo (2020)

Two new β-thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention

Por Phylipsen, Marion, Amato, Antonio, Cappabianca, Maria Pia, Traeger-Synodinos, Jan, Kanavakis, Emmanuel, Basak, Nazli, Galanello, Renzo, Tuveri, Teresa, Ivaldi, Giovanni, Harteveld, Cornelis L., Giordano, Piero C.
Publicado em 2009

Rapid clinical-scale propagation of mesenchymal stem cells using cultures initiated with immunoselected bone marrow CD105(+) cells

Por Spiropoulos, Antonia, Theodosaki, Maria, Stefanaki, Kalliopi, Paterakis, George, Tzetis, Maria, Giannikou, Krinio, Petrakou, Eftichia, Dimopoulou, Maria N, Papassotiriou, Ioannis, Roma, Eleptheria S, Kanavakis, Emmanuel, Graphakos, Stelios, Goussetis, Evgenios
Publicado em 2011

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Por Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Jr., Milan, Claustres, Mireille, Cutting, Garry R.
Publicado em 2004

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

Por Giardine, Belinda, Borg, Joseph, Higgs, Douglas R., Peterson, Kenneth R., Maglott, Donna, Basak, A. Nazli, Clark, Barnaby, Faustino, Paula, Felice, Alex E., Francina, Alain, Gallivan, Monica V. E., Georgitsi, Marianthi, Gibbons, Richard J., Giordano, Piero C., Harteveld, Cornelis L., Joly, Philippe, Kanavakis, Emmanuel, Kollia, Panagoula, Menzel, Stephan, Miller, Webb, Moradkhani, Kamran, Old, John, Papachatzopoulou, Adamantia, Papadakis, Manoussos N., Papadopoulos, Petros, Pavlovic, Sonja, Philipsen, Sjaak, Radmilovic, Milena, Riemer, Cathy, Schrijver, Iris, Stojiljkovic, Maja, Thein, Swee Lay, Traeger-Synodinos, Jan, Tully, Ray, Wada, Takahito, Waye, John, Wiemann, Claudia, Zukic, Branka, Chui, David H. K., Wajcman, Henri, Hardison, Ross C., Patrinos, George P.
Publicado em 2011