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TÍTULO: Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
AUTORES: Isabelle Perrault; Sophie Saunier; Sylvain Hanein; Emilie Filhol; Albane A Bizet; Felicity Collins; Mustafa A M Salih; Sylvie Gerber; Nathalie Delphin; Karine Bigot; Christophe Orssaud; Eduardo Silva; Veronique Baudouin; Machteld M Oud; Nora Shannon; Martine Le Merrer; Olivier Roche; Christine Pietrement; Jamal Goumid; Clarisse Baumann; Christine Bole Feysot; Patrick Nitschke; Mohammed Zahrate; Philip Beales; Heleen H Arts; Arnold Munnich; Josseline Kaplan; Corinne Antignac; Valerie Cormier Daire; Jean Michel Rozet; ...Mais
PUBLICAÇÃO: 2012, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, NÚMERO: 5
INDEXADO EM: Scopus WOS CrossRef: 81
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TÍTULO: Spectrum of Mutations in the Renin-Angiotensin System Genes in Autosomal Recessive Renal Tubular Dysgenesis  Full Text
AUTORES: Olivier Gribouval; Vincent Moriniere; Audrey Pawtowski; Christelle Arrondel; Satu Leena Sallinen; Carola Saloranta; Carol Clericuzio; Geraldine Viot; Julia Tantau; Sophie Blesson; Sylvie Cloarec; Marie Christine Machet; David Chitayat; Christelle Thauvin; Nicole Laurent; Julian R Sampson; Jonathan A Bernstein; Alix Clemenson; Fabienne Prieur; Laurent Daniel; Annie Levy Mozziconacci; Katherine Lachlan; Jean Luc Alessandri; Francois Cartault; Jean Pierre Riviere; Nicole Picard; Clarisse Baumann; Anne Lise Delezoide; Maria B Belar Ortega; Nicolas Chassaing; Philippe Labrune; Sui Yu; Helen Firth; Diana Wellesley; Martin Bitzan; Ahmed Alfares; Nancy Braverman; Lotte Krogh; John Tolmie; Harald Gaspar; Berenice Doray; Silvia Majore; Dominique Bonneau; Stephane Triau; Chantal Loirat; Albert David; Deborah Bartholdi; Amir Peleg; Damien Brackman; Rosario Stone; Ralph DeBerardinis; Pierre Corvol; Annie Michaud; Corinne Antignac; Marie Claire Gubler; ...Mais
PUBLICAÇÃO: 2012, FONTE: HUMAN MUTATION, VOLUME: 33, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy  Full Text
AUTORES: Edgar A Otto; Toby W Hurd; Rannar Airik; Moumita Chaki; Weibin Zhou; Corinne Stoetzel; Suresh B Patil; Shawn Levy; Amiya K Ghosh; Carlos A Murga Zamalloa; Jeroen van Reeuwijk; Stef J F Letteboer; Liyun Sang; Rachel H Giles; Qin Liu; Karlien L M Coene; Alejandro Estrada Cuzcano; Rob W J Collin; Heather M McLaughlin; Susanne Held; Jennifer M Kasanuki; Gokul Ramaswami; Jinny Conte; Irma Lopez; Joseph Washburn; James MacDonald; Jinghua H Hu; Yukiko Yamashita; Eamonn R Maher; Lisa M Guay Woodford; Hartmut P H Neumann; Nicholas Obermueller; Robert K Koenekoop; Carsten Bergmann; Xiaoshu S Bei; Richard A Lewis; Nicholas Katsanis; Vanda Lopes; David S Williams; Robert H Lyons; Chi V Dang; Daniela A Brito; Monica Bettencourt Dias; Xinmin Zhang; James D Cavalcoli; Gudrun Nuernberg; Peter Nuernberg; Eric A Pierce; Peter K Jackson; Corinne Antignac; Sophie Saunier; Ronald Roepman; Helene Dollfus; Hemant Khanna; Friedhelm Hildebrandt; ...Mais
PUBLICAÇÃO: 2010, FONTE: NATURE GENETICS, VOLUME: 42, NÚMERO: 10
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum  Full Text
AUTORES: Verena Matejas; Bernward Hinkes; Faisal Alkandari; Lihadh Al Gazali; Ellen Annexstad; Mehmet B Aytac; Margaret Barrow; Kveta Blahova; Detlef Bockenhauer; Hae Il Cheong; Iwona Maruniak Chudek; Pierre Cochat; Joerg Doetsch; Priya Gajjar; Raoul C Hennekam; Francoise Janssen; Mikhail Kagan; Ariana Kariminejad; Markus J Kemper; Jens Koenig; Jillene Kogan; Hester Y Kroes; Eberhard Kuwertz Broeking; Amy F Lewanda; Ana Medeira; Jutta Muscheites; Patrick Niaudet; Michel Pierson; Anand Saggar; Laurie Seaver; Mohnish Suri; Alexey Tsygin; Elke Wuehl; Aleksandra Zurowska; Steffen Uebe; Friedhelm Hildebrandt; Corinne Antignac; Martin Zenker; ...Mais
PUBLICAÇÃO: 2010, FONTE: HUMAN MUTATION, VOLUME: 31, NÚMERO: 9
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: SIX2 and BMP4 mutations associate with anomalous kidney development
AUTORES: Stefanie Weber; Jaclyn C Taylor; Paul Winyard; Kari F Baker; Jessica Sullivan Brown; Raphael Schild; Tanja Knueppel; Aleksandra M Zurowska; Alberto Caldas Alfonso ; Mieczyslaw Litwin; Sevinc Emre; Gian Marco Ghiggeri; Aysin Bakkaloglu; Otto Mehls; Corinne Antignac; Escape Network; Franz Schaefer; Rebecca D Burdine;
PUBLICAÇÃO: 2008, FONTE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 19, NÚMERO: 5
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A "European community Alport syndrome concerted action" study
AUTORES: Jais, JP; Knebelmann, B; Giatras, I; De Marchi, M; Rizzoni, G; Renieri, A; Weber, M; Gross, O; Netzer, KO; Flinter, F; Pirson, Y; Dahan, K; Wieslander, J; Persson, U; Tryggvason, K; Martin, P; Hertz, JM; Schroder, C; Sanak, M; Carvalho, MF; Saus, J; Antignac, C; Smeets, H; Gubler, MC; ...Mais
PUBLICAÇÃO: 2003, FONTE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 14, NÚMERO: 10
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: X-linked Alport syndrome: Natural history in 195 families and genotype-phenotype correlations in males
AUTORES: Jais, JP; Knebelmann, B; Giatras, I; De Marchi, M; Rizzoni, G; Renieri, A; Weber, M; Gross, O; Netzer, KO; Flinter, F; Pirson, Y; Verellen, C; Wieslander, J; Persson, U; Tryggvason, K; Martin, P; Hertz, JM; Schroder, C; Sanak, M; Krejcova, S; Carvalho, MF; Saus, J; Antignac, C; Smeets, H; Gubler, MC; ...Mais
PUBLICAÇÃO: 2000, FONTE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 11, NÚMERO: 4
INDEXADO EM: Scopus WOS