Monogenic Forms of DSD: An Update von McElreavey, Kenneth, Bashamboo, Anu

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An ancient protein-DNA interaction underlying metazoan sex determination von Murphy, Mark W, Lee, John K, Rojo, Sandra, Gearhart, Micah D, Kurahashi, Kayo, Banerjee, Surajit, Loeuille, Guy-André, Bashamboo, Anu, McElreavey, Kenneth, Zarkower, David, Aihara, Hideki, Bardwell, Vivian J

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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy von Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Daire, Valérie Cormier, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P

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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome von Salpietro, Vincenzo, Lin, Weichun, Delle Vedove, Andrea, Storbeck, Markus, Liu, Yun, Efthymiou, Stephanie, Manole, Andreea, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnakumar, Shyam S., Pitt, Matthew, Bello, Oscar D., Rothman, James E., Basel‐Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan Y., Wirth, Brunhilde, Houlden, Henry

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Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome von Montjean, Debbie, Ph.D, Ravel, Célia, M.D., Ph.D, Benkhalifa, Moncef, Ph.D, Cohen-Bacrie, Paul, D.Pharm, Berthaut, Isabelle, Ph.D, Bashamboo, Anu, Ph.D, McElreavey, Kenneth, Ph.D

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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects von Ayers, Katie L., Eggers, Stefanie, Rollo, Ben N., Smith, Katherine R., Davidson, Nadia M., Siddall, Nicole A., Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf B., Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David K., Bahlo, Melanie, Oshlack, Alicia, O’Brien, Terrence J., Kwan, Patrick, Koopman, Peter, Hime, Gary R., Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, McElreavey, Kenneth, Banne, Ehud, Weintrob, Naomi, BenZeev, Bruria, Sinclair, Andrew H.

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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects von Ayers, Katie L., Eggers, Stefanie, Rollo, Ben N., Smith, Katherine R., Davidson, Nadia M., Siddall, Nicole A., Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf B., Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David K., Bahlo, Melanie, Oshlack, Alicia, O’Brien, Terrence J., Kwan, Patrick, Koopman, Peter, Hime, Gary R., Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, McElreavey, Kenneth, Banne, Ehud, Weintrob, Naomi, BenZeev, Bruria, Sinclair, Andrew H.

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Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism von Mkaouar, Rahma, Ben Abdallah, Lamia Cherif, Naouali, Chokri, Lahbib, Saida, Turki, Zinet, Elouej, Sahar, Bouyacoub, Yosra, Somai, Maali, Mcelreavey, Kenneth, Bashamboo, Anu, Abdelhak, Sonia, Messaoud, Olfa

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Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development von Rjiba, Khouloud, Mougou-Zerelli, Soumaya, Hamida, Imen Hadj, Saad, Ghada, Khadija, Bochra, Jelloul, Afef, Slimani, Wafa, Hasni, Yosra, Dimassi, Sarra, Khelifa, Hela Ben, Sallem, Amira, Kammoun, Molka, Abdallah, Hamza Hadj, Gribaa, Moez, Bignon-Topalovic, Joelle, Chelly, Sami, Khairi, Hédi, Bibi, Mohamed, Kacem, Maha, Saad, Ali, Bashamboo, Anu, McElreavey, Kenneth

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Semen quality analysis of military personnel from six geographical areas of the People’s Republic of China von Zou, Zhikang, M.D., Ph.D, Hu, Haixiang, Ph.D, Song, Manshu, Ph.D, Shen, Yanling, M.D, Guo, Xiuhua, Ph.D, McElreavey, Kenneth, Ph.D, Bittles, Alan H., Sc.D., Ph.D, Wang, Wei, M.D., Ph.D

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Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysge... von Rjiba, Khouloud, Slimani, Wafa, Gaddas, Meriem, Hassine, Ikbel Hadj, Jelloul, Afef, Khelifa, Hela Ben, El Amri, Fethi, Zaouali, Monia, Mcelreavey, Kenneth, Saad, Ali, Mougou-Zerelli, Soumaya

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Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis von Ben Rekaya, Mariem, Naouali, Chokri, Messaoud, Olfa, Jones, Meriem, Bouyacoub, Yosra, Nagara, Majdi, Pippucci, Tommaso, Jmel, Haifa, Chargui, Mariem, Jerbi, Manel, Alibi, Mohamed, Dallali, Hamza, Bashamboo, Anu, McElreavey, Kenneth, Romeo, Giovanni, Barakat, Abdelhamid, Zghal, Mohamed, Yacoub-Youssef, Houda, Abdelhak, Sonia

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The evolving role of whole-exome sequencing in the management of disorders of sex development von Tenenbaum-Rakover, Yardena, Admoni, Osnat, Elias-Assad, Ghadir, London, Shira, Noufi-Barhoum, Marie, Ludar, Hanna, Almagor, Tal, Zehavi, Yoav, Sultan, Charles, Bertalan, Rita, Bashamboo, Anu, McElreavey, Kenneth

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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness von Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Louha, Malek, Bouyacoub, Yosra, Laroussi, Nadia, Chargui, Mariem, Kefi, Rym, Jonard, Laurence, Dorboz, Imen, Hardelin, Jean-Pierre, Salah, Sihem Belhaj, Levilliers, Jacqueline, Weil, Dominique, McElreavey, Kenneth, Boespflug, Odile Tanguy, Besbes, Ghazi, Abdelhak, Sonia, Petit, Christine

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In vitro cellular reprogramming to model gonad development and its disorders von Gonen, Nitzan, Eozenou, Caroline, Mitter, Richard, Elzaiat, Maëva, Stévant, Isabelle, Aviram, Rona, Bernardo, Andreia Sofia, Chervova, Almira, Wankanit, Somboon, Frachon, Emmanuel, Commère, Pierre-Henri, Brailly-Tabard, Sylvie, Valon, Léo, Barrio Cano, Laura, Levayer, Romain, Mazen, Inas, Gobaa, Samy, Smith, James C, McElreavey, Kenneth, Lovell-Badge, Robin, Bashamboo, Anu

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Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome von Kalfa, Nicolas, Philibert, Pascal, Werner, Ralf, Audran, Françoise, Bashamboo, Anu, Lehors, Hélène, Haddad, Myriam, Guys, Jean Michel, Reynaud, Rachel, Alessandrini, Pierre, Wagner, Kathy, Kurzenne, Jean Yves, Bastiani, Florence, Bréaud, Jean, Valla, Jean Stéphane, Lacombe, Gérard Morisson, Orsini, Mattea, Daures, Jean-Pierre, Hiort, Olaf, Paris, Françoise, McElreavey, Kenneth, Sultan, Charles

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Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts von Montjean, Debbie, M.Sc, Benkhalifa, Moncef, Ph.D, Dessolle, Lionel, M.D, Cohen-Bacrie, Paul, D.Pharm, Belloc, Stéphanie, D.Pharm, Siffroi, Jean-Pierre, M.D., Ph.D, Ravel, Célia, M.D., Ph.D, Bashamboo, Anu, Ph.D, McElreavey, Kenneth, Ph.D

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Predictors of surgical complications in boys with hypospadias: data from an international registry von Scougall, Kathryn, Bryce, Jillian, Baronio, Federico, Boal, Rachel L, Castera, Jose Roberto, Castro, Sebastián, Cheetham, Tim, Costa, Eduardo Corrêa, Darendeliler, Feyza, Davies, Justin H, Dirlewanger, Mirjam, Gazdagh, Gabriella, Globa, Evgenia, Guerra-Junior, Gil, Guran, Tulay, Herrmann, Gloria, Holterhus, Paul-Martin, Akgül, Ahsen Karagözlü, Markosyan, Renata, McElreavey, Kenneth, Miranda, Marcio Lopes, Nordenstrom, Anna, O’Toole, Stuart, Poyrazoglu, Sukran, Russo, Gianni, Schwitzgebel, Valerie, Stancampiano, Marianna, Steigert, Michael, Ahmed, S Faisal, Lucas-Herald, Angela K

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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome von Ben Haj Ali, Abir, Amouri, Ahlem, Sayeb, Marwa, Makni, Saloua, Hammami, Wajih, Naouali, Chokri, Dallali, Hamza, Romdhane, Lilia, Bashamboo, Anu, McElreavey, Kenneth, Abdelhak, Sonia, Messaoud, Olfa

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DHX37 and 46,XY DSD: A New Ribosomopathy? von McElreavey, Kenneth, Pailhoux, Eric, Bashamboo, Anu

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