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TITLE: Genotype-phenotype associations in WT1 glomerulopathy  Full Text
AUTHORS: Beata S Lipska; Bruno Ranchin; Paraskevas Iatropoulos; Jutta Gellermann; Anette Melk; Fatih Ozaltin; Gianluca Caridi; Tomas Seeman; Kalman Tory; Augustina Jankauskiene; Aleksandra Zurowska; Maria Szczepanska; Anna Wasilewska; Jerome Harambat; Agnes Trautmann; Amira Peco-Antic; Halina Borzecka; Anna Moczulska; Bassam Saeed; Radovan Bogdanovic; Mukaddes Kalyoncu; Eva Simkova; Ozlem Erdogan; Kristina Vrljicak; Ana Teixeira; Marta Azocar; Franz Schaefer; Marta Azocar; Lina Maria Serna Higuita; Bruno Ranchin; Michel Fischbach; Tinatin Davitaia; Jutta Gellermann; Jun Oh; Anette Melk; Franz Schaefer; Marianne Wigger; Nikoleta Printza; Peter Sallay; Alaleh Gheissari; Marina Noris; Andrea Pasini; Gian Marco Ghiggeri; Gianluigi Ardissino; Elisa Benetti; Francesco Emma; Bilal Aoun; Pauline Abou-Jaoudé; Augustina Jankauskiene; Anna Wasilewska; Ewa Gacka; Aleksandra Zurowska; Dorota Drozdz; Marcin Tkaczyk; Halina Borzecka; Magdalena Silska; Tomasz Jarmolinski; Agnieszka Firszt-Adamczyk; Joanna Ksiazek; Elzbieta Kuzma-Mroczkowska; Anna Medynska; Maria Szczepanska; Alberto Caldas Afonso; Helena Jardim; Radovan Bogdanovic; Rafael T Krmar; Giacomo D Simonetti; Bassam Saeed; Ali Anarat; Ayse Balat; Esra E Baskin; Nilgun Cakar; Ozlem Erdogan; Birsin Özcakar; Fatih Ozaltin; Onur Sakallioglu; Oguz Soylemezoglu; Sema Akman; Faysal Gok; Salim Caliskan; Cengiz Candan; Sevinc Emre; Sevgi Mir; Ipek Akil; Pelin Ertan; Ozan Özkaya; Mukaddes Kalyoncu; Eva Simkova; Entesar Alhammadi; Roman Sobko; ...More
PUBLISHED: 2014, SOURCE: KIDNEY INTERNATIONAL, VOLUME: 85, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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TITLE: Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene  Full Text
AUTHORS: Nele Hilgert; Matthew J Huentelman; Ashley Q Thorburn; Erik Fransen; Nele Dieltjens; Malgorzata Mueller Malesinska; Agnieszka Pollak; Agata Skorka; Jaroslaw Waligora; Rafal Ploski; Pierangela Castorina; Paola Primignani; Umberto Ambrosetti; Alessandra Murgia; Eva Orzan; Arti Pandya; Kathleen Arnos; Virginia Norris; Pavel Seeman; Petr Janousek; Delphine Feldmann; Sandrine Marlin; Francoise Denoyelle; Carla J Nishimura; Andreas Janecke; Doris Nekahm Heis; Alessandro Martini; Elena Mennucci; Timea Toth; Istvan Sziklai; Ignacio del Castillo; Felipe Moreno; Michael B Petersen; Vasiliki Iliadou; Mustafa Tekin; Armagan Incesulu; Ewa Nowakowska; Jerzy Bal; Paul Van de Heyning; Anne Francoise Roux; Catherine Blanchet; Cyril Goizet; Guenaelle Lancelot; Graca Fialho ; Helena Caria ; Xue Zhong Liu; Ouyang Y Xiaomei; Paul Govaerts; Karen Gronskov; Karianne Hostmark; Klemens Frei; Ingeborg Dhooge; Stephen Vlaeminck; Erdmute Kunstmann; Lut Van Laer; Richard J H Smith; Guy Van Camp; ...More
PUBLISHED: 2009, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 17, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
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TITLE: GJB2 mutations and degree of hearing loss: A multicenter study
AUTHORS: Snoeckx, RL; Huygen, PLM; Feldmann, D; Marlin, S; Denoyelle, F; Waligora, J; Mueller Malesinska, M; Pollak, A; Ploski, R; Murgia, A; Orzan, E; Castorina, P; Ambrosetti, U; Nowakowska Szyrwinska, E; Bal, J; Wiszniewski, W; Janecke, AR; Nekahm Heis, D; Seeman, P; Bendova, O; Kenna, MA; Frangulov, A; Rehm, HL; Tekin, M; Incesulu, A; Dahl, HHM; Du Sart, D; Jenkins, L; Lucas, D; Bitner Glindzicz, M; Avraham, KB; Brownstein, Z; Del Castillo, I; Moreno, F; Blin, N; Pfister, M; Sziklai, I; Toth, T; Kelley, PM; Cohn, ES; Van Maldergem, L; Hilbert, P; Roux, AF; Mondain, M; Hoefsloot, LH; Cremers, CWRJ; Lopponen, T; Lopponen, H; Parving, A; Gronskov, K; Schrijver, I; Roberson, J; Gualandi, F; Martini, A; Lina Granade, G; Pallares Ruiz, N; Correia, C; Fialho, G ; Cryns, K; Hilgert, N; Van De Heyning, P; Nishimura, CJ; Smith, RJH; Van Camp, G; ...More
PUBLISHED: 2005, SOURCE: American Journal of Human Genetics, VOLUME: 77, ISSUE: 6
INDEXED IN: Scopus CrossRef