Han G. Brunner
AuthID: R-00F-MR9
11
TITLE: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. MLL2 mutation detection in 86 patients with Kabuki syndrome Full Text
AUTHORS: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodriguez Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; M. Cueto Gonzalez; Cusco, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; ...More
PUBLISHED: 2013, SOURCE: CLINICAL GENETICS, VOLUME: 84, ISSUE: 6
AUTHORS: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodriguez Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; M. Cueto Gonzalez; Cusco, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; ...More
PUBLISHED: 2013, SOURCE: CLINICAL GENETICS, VOLUME: 84, ISSUE: 6
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TITLE: Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations
AUTHORS: Maria Conceicao Pereira; Jose Leal Loureiro ; Jorge Pinto Basto; Eva Brandao; Ana Margarida Lopes; Georgina Neves; Pureza Dias; Ruth Geraldes; Isabel Pavao Martins ; Vitor Tedim Cruz ; Erik Jan Kamsteeg; Han G Brunner; Paula Coutinho ; Jorge Sequeiros ; Isabel Alonso ;
PUBLISHED: 2012, SOURCE: GENETICS IN MEDICINE, VOLUME: 14, ISSUE: 1
AUTHORS: Maria Conceicao Pereira; Jose Leal Loureiro ; Jorge Pinto Basto; Eva Brandao; Ana Margarida Lopes; Georgina Neves; Pureza Dias; Ruth Geraldes; Isabel Pavao Martins ; Vitor Tedim Cruz ; Erik Jan Kamsteeg; Han G Brunner; Paula Coutinho ; Jorge Sequeiros ; Isabel Alonso ;
PUBLISHED: 2012, SOURCE: GENETICS IN MEDICINE, VOLUME: 14, ISSUE: 1
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TITLE: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice Full Text
AUTHORS: Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 7
AUTHORS: Joe Rainger; Ellen van Beusekom; Jacqueline K Ramsay; Lisa McKie; Lihadh Al Gazali; Rosanna Pallotta; Anita Saponari; Peter Branney; Malcolm Fisher; Harris Morrison; Louise Bicknell; Philippe Gautier; Paul Perry; Kishan Sokhi; David Sexton; Tanya M Bardakjian; Adele S Schneider; Nursel Elcioglu; Ferda Ozkinay; Rainer Koenig; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 7
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TITLE: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome Full Text
AUTHORS: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 6
AUTHORS: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 6
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TITLE: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Full Text
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
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TITLE: The valsartan antihypertensive long-term use evaluation (VALUE) trial - Outcomes in patients receiving monotherapy
AUTHORS: Stevo Julius; Michael A Weber; Sverre E Kjeldsen; Gordon T McInnes; Alberto Zanchetti; Hans R Brunner; John Laragh; Anthony A Schork; Tsushung A Hua; John Amerena; Ivan Balazovjech; Graham Cassel; Bela Herczeg; Nevres Koylan; Dieter Magometschnigg; Silja Majahalme; Felipe Martinez; Willie Oigman; Ricardo Seabra Gomes; Jun ren Zhu;
PUBLISHED: 2006, SOURCE: HYPERTENSION, VOLUME: 48, ISSUE: 3
AUTHORS: Stevo Julius; Michael A Weber; Sverre E Kjeldsen; Gordon T McInnes; Alberto Zanchetti; Hans R Brunner; John Laragh; Anthony A Schork; Tsushung A Hua; John Amerena; Ivan Balazovjech; Graham Cassel; Bela Herczeg; Nevres Koylan; Dieter Magometschnigg; Silja Majahalme; Felipe Martinez; Willie Oigman; Ricardo Seabra Gomes; Jun ren Zhu;
PUBLISHED: 2006, SOURCE: HYPERTENSION, VOLUME: 48, ISSUE: 3
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TITLE: The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males
AUTHORS: Twigg, SRF; Matsumoto, K; Kidd, AMJ; Goriely, A; Taylor, IB; Fisher, RB; Hoogeboom, AJM; Mathijssen, IMJ; Lourenco, MT; Morton, JEV; Sweeney, E; Wilson, LC; Brunner, HG; Mulliken, JB; Wall, SA; Wilkie, AOM;
PUBLISHED: 2006, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 78, ISSUE: 6
AUTHORS: Twigg, SRF; Matsumoto, K; Kidd, AMJ; Goriely, A; Taylor, IB; Fisher, RB; Hoogeboom, AJM; Mathijssen, IMJ; Lourenco, MT; Morton, JEV; Sweeney, E; Wilson, LC; Brunner, HG; Mulliken, JB; Wall, SA; Wilkie, AOM;
PUBLISHED: 2006, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 78, ISSUE: 6
