Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations von Kadouri, Luna, Sagi, Michal, Goldberg, Yael, Lerer, Israela, Hamburger, Tamar, Peretz, Tamar

Volltext

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations von KLEBEL, Stephan, LOSSOS, Alexander, RASTETTER, Agnes, MARTIN, Elodie, BOUTEILLER, Delphine, ORLANDO, Laurent, GYAPAY, Gabor, EL-HACHIMI, Khalid H, ZIMMERMAN, Batel, GAMLIEL, Moriya, MISK, Adel, LERER, Israela, AZZEDINE, Hamid, BRICE, Alexis, DURR, Alexandra, STEVANIN, Giovanni, MUNDWILLER, Emeline, SHEFFER, Ruth, GAUSSEN, Marion, MARELLI, Cecilia, NAWARA, Magdalena, CARPENTIER, Wassila, MEYER, Vincent

Volltext

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy von Lerer, Israela, Sagi, Michal, Meiner, Vardiella, Cohen, Tirza, Zlotogora, Joel, Abeliovich, Dvorah

Volltext

A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer von Kadouri, Luna, Bercovich, Dani, Elimelech, Arava, Lerer, Israela, Sagi, Michal, Glusman, Gila, Shochat, Chen, Korem, Sigal, Hamburger, Tamar, Nissan, Aviram, Abu-Halaf, Nahil, Badrriyah, Muhmud, Abeliovich, Dvorah, Peretz, Tamar

Volltext

Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia von Molho-Pessach, Vered, MD, Agha, Ziad, MD, Libster, Diana, MD, Lerer, Israela, PhD, Burger, Ayala, MSc, Jaber, Saleh, MD, Abeliovich, Dvorah, PhD, Zlotogorski, Abraham, MD

Volltext

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3 von Molho-Pessach, Vered, Lerer, Israela, Abeliovich, Dvorah, Agha, Ziad, Abu Libdeh, Abdulasalam, Broshtilova, Valentina, Elpeleg, Orly, Zlotogorski, Abraham

Volltext

Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies von Daum, Hagit, Lerer, Israela, Frumkin, Ayala, Rosenak, Daniel, Yanai, Nili, Porat, Shay, Yagel, Simcha, Meiner, Vardiella

Volltext

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem von Boneh, Avihu, Korman, Stanley H, Sato, Kenichi, Kanno, Junko, Matsubara, Yoichi, Lerer, Israela, Ben-Neriah, Ziva, Kure, Shigeo

Volltext

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia von Lossos, Alexander, Stümpfig, Claudia, Stevanin, Giovanni, Gaussen, Marion, Zimmerman, Bat-El, Mundwiller, Emeline, Asulin, Moriya, Chamma, Liat, Sheffer, Ruth, Misk, Adel, Dotan, Shlomo, Gomori, John M, Ponger, Penina, Brice, Alexis, Lerer, Israela, Meiner, Vardiella, Lill, Roland

Volltext

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations von Khalaileh, Ayat, Abu-Diab, Alaa, Ben-Yosef, Tamar, Raas-Rothschild, Annick, Lerer, Israela, Alswaiti, Yahya, Chowers, Itay, Banin, Eyal, Sharon, Dror, Khateb, Samer

Volltext

Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon von Ponger, Penina, Kurolap, Alina, Lerer, Israela, Dagan, Judith, Chai Gadot, Chofit, Mory, Adi, Wilnai, Yael, Oniashvili, Nino, Giladi, Nir, Gurevich, Tanya, Meiner, Vardiella, Lossos, Alexander, Baris Feldman, Hagit

Volltext

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance von Lieberman, S, Walsh, T, Schechter, M, Adar, T, Goldin, E, Beeri, R, Sharon, N, Baris, H, Ben Avi, L, Half, E, Lerer, I, Shirts, B.H, Pritchard, C.C, Tomlinson, I, King, M.C, Levy-Lahad, E, Peretz, T, Goldberg, Y

Volltext

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder von Lossos, Alexander, Elazar, Nimrod, Lerer, Israela, Schueler-Furman, Ora, Fellig, Yakov, Glick, Benjamin, Zimmerman, Bat-El, Azulay, Haim, Dotan, Shlomo, Goldberg, Sharon, Gomori, John M, Ponger, Penina, Newman, J P, Marreed, Hodaifah, Steck, Andreas J, Schaeren-Wiemers, Nicole, Mor, Nofar, Harel, Michal, Geiger, Tamar, Eshed-Eisenbach, Yael, Meiner, Vardiella, Peles, Elior

Volltext

Mutation spectrum in HNPCC in the Israeli population von Goldberg, Yael, Porat, Rinnat M., Kedar, Inbal, Shochat, Chen, Sagi, Michal, Eilat, Avital, Mendelson, Suzan, Hamburger, Tamar, Nissan, Aviram, Hubert, Ayala, Kadouri, Luna, Pikarski, Eli, Lerer, Israela, Abeliovich, Dvorah, Bercovich, Dani, Peretz, Tamar

Volltext

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families von ELLEUCH, Nizar, BOUSLAM, Naima, BACQ, Delphine, TAZIR, Meriem, ZELENIKA, Diana, ARGOV, Zohar, DURR, Alexandra, YAHYAOUI, Mohamed, BENOMAR, Ali, BRICE, Alexis, STEVANIN, Giovanni, HANEIN, Sylvain, LOSSES, Alexander, HAMRI, Abdelmadjid, KLEBE, Stephan, MEINER, Vardiella, BIROUK, Nezha, LERER, Israela, GRID, Djamel

Volltext

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia von Halevy, Ayelet, Lerer, Israela, Cohen, Rony, Kornreich, Liora, Shuper, Avinoam, Gamliel, Moria, Zimerman, Bat-El, Korabi, Isam, Meiner, Vardiella, Straussberg, Rachel, Lossos, Alexander

Volltext

Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease von Akman, H. Orhan, Kakhlon, Or, Coku, Jorida, Peverelli, Lorenzo, Rosenmann, Hanna, Rozenstein-Tsalkovich, Lea, Turnbull, Julie, Meiner, Vardiella, Chama, Liat, Lerer, Israela, Shpitzen, Shoshi, Leitersdorf, Eran, Paradas, Carmen, Wallace, Mary, Schiffman, Raphael, DiMauro, Salvatore, Lossos, Alexander, Minassian, Berge A

Volltext

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration von Stevanin, Giovanni, Azzedine, Hamid, Denora, Paola, Boukhris, Amir, Tazir, Meriem, Lossos, Alexander, Rosa, Alberto Luis, Lerer, Israela, Hamri, Abdelmadjid, Alegria, Paulo, Loureiro, José, Tada, Masayoshi, Hannequin, Didier, Anheim, Mathieu, Goizet, Cyril, Gonzalez-Martinez, Victoria, Le Ber, Isabelle, Forlani, Sylvie, Iwabuchi, Kiyoshi, Meiner, Vardiela, Uyanik, Goekhan, Erichsen, Anne Kjersti, Feki, Imed, Pasquier, Florence, Belarbi, Soreya, Cruz, Vitor T., Depienne, Christel, Truchetto, Jeremy, Garrigues, Guillaume, Tallaksen, Chantal, Tranchant, Christine, Nishizawa, Masatoyo, Vale, José, Coutinho, Paula, Santorelli, Filippo M., Mhiri, Chokri, Brice, Alexis, Durr, Alexandra

Volltext

MYORG is associated with recessive primary familial brain calcification von Arkadir, David, Lossos, Alexander, Rahat, Dolev, Abu Snineh, Muneer, Schueler‐Furman, Ora, Nitschke, Silvia, Minassian, Berge A., Sadaka, Yair, Lerer, Israela, Tabach, Yuval, Meiner, Vardiella

Volltext

Genetic screening in patients with Retinoblastoma in Israel von Sagi, Michal, Frenkel, Avishag, Eilat, Avital, Weinberg, Naomi, Frenkel, Shahar, Pe’er, Jacob, Abeliovich, Dvorah, Lerer, Israela

Volltext