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A Case of True Hermaphroditism Presenting as a Testicular Tumour
Gatt, Noel, Said, Edith, Calleja, Edward, Ceci, Michelle
Published in Case reports in urology (01.01.2015)
Published in Case reports in urology (01.01.2015)
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Journal Article
Trophoblastic disease and choriocarcinoma
Camilleri, Graziella, Calleja-Aguis, Jean, Said, Edith
Published in European journal of surgical oncology (01.04.2025)
Published in European journal of surgical oncology (01.04.2025)
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Journal Article
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
Wakeling, Emma L., Brioude, Frédéric, Lokulo-Sodipe, Oluwakemi, O'Connell, Susan M., Salem, Jennifer, Bliek, Jet, Canton, Ana P. M., Chrzanowska, Krystyna H., Davies, Justin H., Dias, Renuka P., Dubern, Béatrice, Elbracht, Miriam, Giabicani, Eloise, Grimberg, Adda, Grønskov, Karen, Hokken-Koelega, Anita C. S., Jorge, Alexander A., Kagami, Masayo, Linglart, Agnes, Maghnie, Mohamad, Mohnike, Klaus, Monk, David, Moore, Gudrun E., Murray, Philip G., Ogata, Tsutomu, Petit, Isabelle Oliver, Russo, Silvia, Said, Edith, Toumba, Meropi, Tümer, Zeynep, Binder, Gerhard, Eggermann, Thomas, Harbison, Madeleine D., Temple, I. Karen, Mackay, Deborah J. G., Netchine, Irène
Published in Nature reviews. Endocrinology (01.02.2017)
Published in Nature reviews. Endocrinology (01.02.2017)
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Journal Article
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
Published in Nature genetics (01.01.2015)
Published in Nature genetics (01.01.2015)
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Journal Article
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabińska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina
Published in American journal of human genetics (01.04.2021)
Published in American journal of human genetics (01.04.2021)
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Journal Article
International consensus recommendations on the diagnostic work-up for malformations of cortical development
Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., Di Donato, Nataliya
Published in Nature reviews. Neurology (01.11.2020)
Published in Nature reviews. Neurology (01.11.2020)
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Journal Article
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy
De Maria, Beatrice, Balestrini, Simona, Mei, Davide, Melani, Federico, Pellacani, Simona, Pisano, Tiziana, Rosati, Anna, Scaturro, Giusi M., Giordano, Lucio, Cantalupo, Gaetano, Fontana, Elena, Zammarchi, Cristina, Said, Edith, Leuzzi, Vincenzo, Mastrangelo, Mario, Galosi, Serena, Parrini, Elena, Guerrini, Renzo
Published in American journal of medical genetics. Part A (01.02.2022)
Published in American journal of medical genetics. Part A (01.02.2022)
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Journal Article
EPG5 -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz
Published in Brain (London, England : 1878) (01.03.2016)
Published in Brain (London, England : 1878) (01.03.2016)
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Journal Article
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna
Published in European journal of human genetics : EJHG (01.01.2020)
Published in European journal of human genetics : EJHG (01.01.2020)
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Journal Article
Eight previously unidentified mutations found in the OA1 ocular albinism gene
Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, Bonneau, Dominique, Munier, Francis L, Schorderet, Daniel F, Levin, Alex V, Héon, Elise, Sutherland, Joanne, Lacombe, Didier, Said, Edith, Mezer, Eedy, Kaplan, Josseline, Dufier, Jean-Louis, Marsac, Cécile, Menasche, Maurice, Abitbol, Marc
Published in BMC medical genetics (28.04.2006)
Published in BMC medical genetics (28.04.2006)
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Journal Article
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Johari, Mridul, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Savarese, Marco, Jokela, Manu, Torella, Annalaura, Piluso, Giulio, Said, Edith, Vella, Norbert, Cauchi, Marija, Magot, Armelle, Magri, Francesca, Mauri, Eleonora, Kornblum, Cornelia, Reimann, Jens, Stojkovic, Tanya, Romero, Norma B., Luque, Helena, Huovinen, Sanna, Lahermo, Päivi, Donner, Kati, Comi, Giacomo Pietro, Nigro, Vincenzo, Hackman, Peter, Udd, Bjarne
Published in Acta neuropathologica (01.08.2021)
Published in Acta neuropathologica (01.08.2021)
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Journal Article
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients
Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna
Published in European journal of human genetics : EJHG (01.01.2020)
Published in European journal of human genetics : EJHG (01.01.2020)
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Journal Article
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1
Said, Edith, Chong, Jessica X., Hempel, Maja, Denecke, Jonas, Soler, Paul, Strom, Tim, Nickerson, Deborah A., Kubisch, Christian, Bamshad, Michael J., Lessel, Davor
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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Journal Article
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Denora, Paola S, Schlesinger, David, Casali, Carlo, Kok, Fernando, Tessa, Alessandra, Boukhris, Amir, Azzedine, Hamid, Dotti, Maria Teresa, Bruno, Claudio, Truchetto, Jeremy, Biancheri, Roberta, Fedirko, Estelle, Di Rocco, Maja, Bueno, Clarissa, Malandrini, Alessandro, Battini, Roberta, Sickl, Elisabeth, de Leva, Maria Fulvia, Boespflug-Tanguy, Odile, Silvestri, Gabriella, Simonati, Alessandro, Said, Edith, Ferbert, Andreas, Criscuolo, Chiara, Heinimann, Karl, Modoni, Anna, Weber, Peter, Palmeri, Silvia, Plasilova, Martina, Pauri, Flavia, Cassandrini, Denise, Battisti, Carla, Pini, Antonella, Tosetti, Michela, Hauser, Erwin, Masciullo, Marcella, Fabio, Roberto Di, Piccolo, Francesca, Denis, Elodie, Cioni, Giovanni, Massa, Roberto, Giustina, Elvio Della, Calabrese, Olga, Melone, Marina A.B, De Michele, Giuseppe, Federico, Antonio, Bertini, Enrico, Durr, Alexandra, Brockmann, Knut, van der Knaap, Marjo S, Zatz, Mayana, Filla, Alessandro, Brice, Alexis, Stevanin, Giovanni, Santorelli, Filippo M
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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Journal Article
DEFECT IN DORSO-VENTRAL PATTERNING, ASPLENIA, AND CONOTRUNCUS IN A SPONTANEOUSLY ABORTED FETUS
Cuschieri, Alfred, Said, Edith, Calleja-Agius, Jean
Published in Fetal and pediatric pathology (01.07.2004)
Published in Fetal and pediatric pathology (01.07.2004)
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Journal Article
Eight previously unidentified mutations found in the OA1ocular albinism gene
Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, Bonneau, Dominique, Munier, Francis L, Schorderet, Daniel F, Levin, Alex V, Héon, Elise, Sutherland, Joanne, Lacombe, Didier, Said, Edith, Mezer, Eedy, Kaplan, Josseline, Dufier, Jean-Louis, Marsac, Cécile, Menasche, Maurice, Abitbol, Marc
Published in BMC medical genetics (28.04.2006)
Published in BMC medical genetics (28.04.2006)
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Journal Article