Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
De Rocker, Nina, Vergult, Sarah, Koolen, David, Jacobs, Eva, Hoischen, Alexander, Zeesman, Susan, Bang, Birgitte, Béna, Frédérique, Bockaert, Nele, Bongers, Ernie M, de Ravel, Thomy, Devriendt, Koenraad, Giglio, Sabrina, Faivre, Laurence, Joss, Shelagh, Maas, Saskia, Marle, Nathalie, Novara, Francesca, Nowaczyk, Malgorzata J M, Peeters, Hilde, Polstra, Abeltje, Roelens, Filip, Rosenberg, Carla, Thevenon, Julien, Tümer, Zeynep, Vanhauwaert, Suzanne, Varvagiannis, Konstantinos, Willaert, Andy, Willemsen, Marjolein, Willems, Marjolaine, Zuffardi, Orsetta, Coucke, Paul, Speleman, Frank, Eichler, Evan E, Kleefstra, Tjitske, Menten, Björn
Published in Genetics in medicine (01.06.2015)
Published in Genetics in medicine (01.06.2015)
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Serum Dickkopf-1 is increased and correlates with reduced bone mineral density in patients with thalassemia-induced osteoporosis. Reduction post-zoledronic acid administration
Voskaridou, Ersi, Christoulas, Dimitrios, Xirakia, Charoula, Varvagiannis, Konstantinos, Boutsikas, Georgios, Bilalis, Antonios, Kastritis, Efstathios, Papatheodorou, Athanasios, Terpos, Evangelos
Published in Haematologica (Roma) (01.05.2009)
Published in Haematologica (Roma) (01.05.2009)
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The effect of prolonged administration of hydroxyurea on morbidity and mortality in adult patients with sickle cell syndromes: results of a 17-year, single-center trial (LaSHS)
Voskaridou, Ersi, Christoulas, Dimitrios, Bilalis, Antonios, Plata, Eleni, Varvagiannis, Konstantinos, Stamatopoulos, George, Sinopoulou, Klio, Balassopoulou, Aggeliki, Loukopoulos, Dimitris, Terpos, Evangelos
Published in Blood (25.03.2010)
Published in Blood (25.03.2010)
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Journal Article
239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype
Kosma, Konstantina, Varvagiannis, Konstantinos, Mitrakos, Anastasios, Tsipi, Maria, Traeger-Synodinos, Joanne, Tzetis, Maria
Published in Molecular syndromology (01.08.2021)
Published in Molecular syndromology (01.08.2021)
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Journal Article
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
Al‐Kateb, Hussam, Au, P. Y. Billie, Berland, Siren, Cogne, Benjamin, Demurger, Florence, Fluss, Joel, Isidor, Bertrand, Frank, L. Matthew, Varvagiannis, Konstantinos, Koolen, David A., McDonald, Marie, Montgomery, Sarah, Moortgat, Stéphanie, Deprez, Marie, Karadurmus, Deniz, Paulsen, Julie, Reis, André, Rieger, Melissa, Vasileiou, Georgia, Willing, Marcia, Shinawi, Marwan
Published in Clinical genetics (01.03.2024)
Published in Clinical genetics (01.03.2024)
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Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse
Published in European journal of human genetics : EJHG (03.04.2024)
Published in European journal of human genetics : EJHG (03.04.2024)
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Journal Article
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, Piard, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse
Published in European journal of human genetics : EJHG (15.02.2024)
Published in European journal of human genetics : EJHG (15.02.2024)
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Journal Article
Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis
Marconi, Caterina, Lemmens, Laure, Masclaux, Frédéric, Mattioli, Francesca, Fluss, Joël, Extermann, Philippe, Mendez, Purificacion, Leuchter, Russia Ha‐Vinh, Stathaki, Elissavet, Laurent, Sacha, Hammar, Eva, Vannier, Anne, Varvagiannis, Konstantinos, Guipponi, Michel, Sloan‐Bena, Frédérique, Blouin, Jean‐Louis, Abramowicz, Marc, Fokstuen, Siv
Published in Clinical genetics (01.09.2021)
Published in Clinical genetics (01.09.2021)
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Journal Article
SERPINI1 pathogenic variants: An emerging cause of childhood‐onset progressive myoclonic epilepsy
Ranza, Emmanuelle, Garcia‐Tarodo, Stephanie, Varvagiannis, Konstantinos, Guipponi, Michel, Lobrinus, Johannes A., Bottani, Armand, Kern, Ilse, Kurian, Mary, Pittet, Marie‐Pascale, Antonarakis, Stylianos E., Fluss, Joel, Korff, Christian M.
Published in American journal of medical genetics. Part A (01.09.2017)
Published in American journal of medical genetics. Part A (01.09.2017)
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Journal Article
Pure de novo partial trisomy 6p in a girl with craniosynostosis
Varvagiannis, Konstantinos, Stefanidou, Amalia, Gyftodimou, Yolanda, Lord, Helen, Williams, Louise, Sarri, Catherine, Pandelia, Efi, Bazopoulou‐Kyrkanidou, Euterpe, Noakes, Charlotte, Lester, Tracy, Wilkie, Andrew O.M., Petersen, Michael B.
Published in American journal of medical genetics. Part A (01.02.2013)
Published in American journal of medical genetics. Part A (01.02.2013)
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Journal Article
Serum Dickkopf-1 Is Increased and Correlates with Bone Mineral Density in Patients with Thalassemia-Induced Osteoporosis. Reduction Post Zoledronic Acid Administration
Voskaridou, Ersi, Christoulas, Dimitrios, Pantelaros, Thodoris, Varvagiannis, Konstantinos, Xirakia, Charoula, Papatheodorou, Athanasios, Sinopoulou, Kleio, Mpalasopoulou, Aggeliki, Bilalis, Antonios, Terpos, Evangelos
Published in Blood (16.11.2008)
Published in Blood (16.11.2008)
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Journal Article
Deferasirox Reduces Serum TNF-α but Impairs Renal Function in Patients with Thalassemia Major after 12 Months of Therapy
Voskaridou, Ersi, Plata, Eleni, Christoulas, Dimitrios, Xirakia, Charoula, Stoupa, Eleni, Varvagiannis, Konstantinos, Bilalis, Antonios, Papatheodorou, Athanasios, Tsaftaridis, Panagiotis, Terpos, Evangelos
Published in Blood (16.11.2008)
Published in Blood (16.11.2008)
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Journal Article
Prolonged Administration of Hydroxyurea Reduces Morbidity and Mortality in Adult Patients with Sickle-Cell Syndromes: Long-Term Experience of a Single Center
Voskaridou, Ersi, Bilalis, Antonios, Christoulas, Dimitrios, Varvagiannis, Konstantinos, Sinopoulou, Kleio, Plata, Eleni, Tsaftaridis, Panagiotis, Loukopoulos, Dimitris, Terpos, Evangelos
Published in Blood (16.11.2008)
Published in Blood (16.11.2008)
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Journal Article
Serum Dickkopf-1 is increased and correlates with reduced bone mineral density in patients with thalassemia-induced osteoporosis. Reduction post-zoledronic acid administration
Voskaridou, Ersi, Christoulas, Dimitrios, Xirakia, Charoula, Varvagiannis, Konstantinos, Boutsikas, Georgios, Bilalis, Antonios, Kastritis, Efstathios, Papatheodorou, Athanasios, Terpos, Evangelos
Published in Haematologica (Roma) (01.05.2009)
Published in Haematologica (Roma) (01.05.2009)
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Journal Article
239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype
Kosma, Konstantina, Varvagiannis, Konstantinos, Mitrakos, Anastasios, Tsipi, Maria, Traeger-Synodinos, Joanne, Tzetis, Maria
Published in Molecular syndromology (01.08.2021)
Published in Molecular syndromology (01.08.2021)
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De novo 393kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features
Varvagiannis, Konstantinos, Papoulidis, Ioannis, Koromila, Theodora, Kefalas, Konstantinos, Ziegler, Monika, Liehr, Thomas, Petersen, Michael B., Gyftodimou, Yolanda, Manolakos, Emmanouil
Published in Meta Gene (01.12.2014)
Published in Meta Gene (01.12.2014)
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Journal Article
De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features
Varvagiannis, Konstantinos, Papoulidis, Ioannis, Koromila, Theodora, Kefalas, Konstantinos, Ziegler, Monika, Liehr, Thomas, Petersen, Michael B, Gyftodimou, Yolanda, Manolakos, Emmanouil
Published in Meta Gene (01.12.2014)
Published in Meta Gene (01.12.2014)
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Journal Article
Pure de novo partial trisomy 6p in a girl with craniosynostosis
Varvagiannis, Konstantinos, Stefanidou, Amalia, Gyftodimou, Yolanda, Lord, Helen, Williams, Louise, Sarri, Catherine, Pandelia, Efi, Bazopoulou-Kyrkanidou, Euterpe, Noakes, Charlotte, Lester, Tracy, Wilkie, Andrew O.M., Petersen, Michael B.
Published in American Journal of Medical Genetics Part A (01.02.2013)
Published in American Journal of Medical Genetics Part A (01.02.2013)
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