Corinne Antignac
AuthID: R-00F-JBB
1
TITLE: Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 5
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 5
2
TITLE: Spectrum of Mutations in the Renin-Angiotensin System Genes in Autosomal Recessive Renal Tubular Dysgenesis Full Text
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 2
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 2
3
TITLE: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy Full Text
AUTHORS: 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; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 10
AUTHORS: 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; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 10
4
TITLE: Mutations in the Human Laminin beta 2 (LAMB2) Gene and the Associated Phenotypic Spectrum Full Text
AUTHORS: 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; ...More
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 9
AUTHORS: 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; ...More
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 9
5
TITLE: SIX2 and BMP4 mutations associate with anomalous kidney development
AUTHORS: 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;
PUBLISHED: 2008, SOURCE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 19, ISSUE: 5
AUTHORS: 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;
PUBLISHED: 2008, SOURCE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 19, ISSUE: 5
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TITLE: 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
AUTHORS: 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; ...More
PUBLISHED: 2003, SOURCE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 14, ISSUE: 10
AUTHORS: 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; ...More
PUBLISHED: 2003, SOURCE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 14, ISSUE: 10
7
TITLE: X-linked Alport syndrome: Natural history in 195 families and genotype-phenotype correlations in males
AUTHORS: 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; ...More
PUBLISHED: 2000, SOURCE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 11, ISSUE: 4
AUTHORS: 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; ...More
PUBLISHED: 2000, SOURCE: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, VOLUME: 11, ISSUE: 4
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