Showing 1–22 of 22 results
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Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
- Ralf Birkenhäger
- , Edgar Otto
- , Maria J. Schürmann
- , Martin Vollmer
- , Eva-Maria Ruf
- , Irina Maier-Lutz
- , Frank Beekmann
- , Andrea Fekete
- , Heymut Omran
- , Delphine Feldmann
- , David V. Milford
- , Nicola Jeck
- , Martin Konrad
- , Daniel Landau
- , Nine V.A.M. Knoers
- , Corinne Antignac
- , Ralf Sudbrak
- , Andreas Kispert
- & Friedhelm Hildebrandt
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Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis
- Olivier Gribouval
- , Marie Gonzales
- , Thomas Neuhaus
- , Jacqueline Aziza
- , Eric Bieth
- , Nicole Laurent
- , Jean Marie Bouton
- , François Feuillet
- , Saloua Makni
- , Hatem Ben Amar
- , Guido Laube
- , Anne-Lise Delezoide
- , Raymonde Bouvier
- , Frédérique Dijoud
- , Elisabeth Ollagnon-Roman
- , Joelle Roume
- , Madeleine Joubert
- , Corinne Antignac
- & Marie Claire Gubler
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Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
- Christelle Arrondel
- , Sophia Missoury
- , Rozemarijn Snoek
- , Julie Patat
- , Giulia Menara
- , Bruno Collinet
- , Dominique Liger
- , Dominique Durand
- , Olivier Gribouval
- , Olivia Boyer
- , Laurine Buscara
- , Gaëlle Martin
- , Eduardo Machuca
- , Fabien Nevo
- , Ewen Lescop
- , Daniela A. Braun
- , Anne-Claire Boschat
- , Sylvia Sanquer
- , Ida Chiara Guerrera
- , Patrick Revy
- , Mélanie Parisot
- , Cécile Masson
- , Nathalie Boddaert
- , Marina Charbit
- , Stéphane Decramer
- , Robert Novo
- , Marie-Alice Macher
- , Bruno Ranchin
- , Justine Bacchetta
- , Audrey Laurent
- , Sophie Collardeau-Frachon
- , Albertien M. van Eerde
- , Friedhelm Hildebrandt
- , Daniella Magen
- , Corinne Antignac
- , Herman van Tilbeurgh
- & Géraldine Mollet
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
- Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt and colleagues...
- Daniela A Braun
- , Jia Rao
- , Geraldine Mollet
- , David Schapiro
- , Marie-Claire Daugeron
- , Weizhen Tan
- , Olivier Gribouval
- , Olivia Boyer
- , Patrick Revy
- , Tilman Jobst-Schwan
- , Johanna Magdalena Schmidt
- , Jennifer A Lawson
- , Denny Schanze
- , Shazia Ashraf
- , Jeremy F P Ullmann
- , Charlotte A Hoogstraten
- , Nathalie Boddaert
- , Bruno Collinet
- , Gaëlle Martin
- , Dominique Liger
- , Svjetlana Lovric
- , Monica Furlano
- , I Chiara Guerrera
- , Oraly Sanchez-Ferras
- , Jennifer F Hu
- , Anne-Claire Boschat
- , Sylvia Sanquer
- , Björn Menten
- , Sarah Vergult
- , Nina De Rocker
- , Merlin Airik
- , Tobias Hermle
- , Shirlee Shril
- , Eugen Widmeier
- , Heon Yung Gee
- , Won-Il Choi
- , Carolin E Sadowski
- , Werner L Pabst
- , Jillian K Warejko
- , Ankana Daga
- , Tamara Basta
- , Verena Matejas
- , Karin Scharmann
- , Sandra D Kienast
- , Babak Behnam
- , Brendan Beeson
- , Amber Begtrup
- , Malcolm Bruce
- , Gaik-Siew Ch'ng
- , Shuan-Pei Lin
- , Jui-Hsing Chang
- , Chao-Huei Chen
- , Megan T Cho
- , Patrick M Gaffney
- , Patrick E Gipson
- , Chyong-Hsin Hsu
- , Jameela A Kari
- , Yu-Yuan Ke
- , Cathy Kiraly-Borri
- , Wai-ming Lai
- , Emmanuelle Lemyre
- , Rebecca Okashah Littlejohn
- , Amira Masri
- , Mastaneh Moghtaderi
- , Kazuyuki Nakamura
- , Fatih Ozaltin
- , Marleen Praet
- , Chitra Prasad
- , Agnieszka Prytula
- , Elizabeth R Roeder
- , Patrick Rump
- , Rhonda E Schnur
- , Takashi Shiihara
- , Manish D Sinha
- , Neveen A Soliman
- , Kenza Soulami
- , David A Sweetser
- , Wen-Hui Tsai
- , Jeng-Daw Tsai
- , Rezan Topaloglu
- , Udo Vester
- , David H Viskochil
- , Nithiwat Vatanavicharn
- , Jessica L Waxler
- , Klaas J Wierenga
- , Matthias T F Wolf
- , Sik-Nin Wong
- , Sebastian A Leidel
- , Gessica Truglio
- , Peter C Dedon
- , Annapurna Poduri
- , Shrikant Mane
- , Richard P Lifton
- , Maxime Bouchard
- , Peter Kannu
- , David Chitayat
- , Daniella Magen
- , Bert Callewaert
- , Herman van Tilbeurgh
- , Martin Zenker
- , Corinne Antignac
- & Friedhelm Hildebrandt
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Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
- Kálmán Tory, Corinne Antignac and colleagues report that a...
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Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization
- Albane A. Bizet
- , Anita Becker-Heck
- , Rebecca Ryan
- , Kristina Weber
- , Emilie Filhol
- , Pauline Krug
- , Jan Halbritter
- , Marion Delous
- , Marie-Christine Lasbennes
- , Bolan Linghu
- , Edward J. Oakeley
- , Mohammed Zarhrate
- , Patrick Nitschké
- , Meriem Garfa-Traore
- , Fabrizio Serluca
- , Fan Yang
- , Tewis Bouwmeester
- , Lucile Pinson
- , Elisabeth Cassuto
- , Philippe Dubot
- , Neveen A. Soliman Elshakhs
- , José A. Sahel
- , Rémi Salomon
- , Iain A. Drummond
- , Marie-Claire Gubler
- , Corinne Antignac
- , Salahdine Chibout
- , Joseph D. Szustakowski
- , Friedhelm Hildebrandt
- , Esben Lorentzen
- , Andreas W. Sailer
- , Alexandre Benmerah
- , Pierre Saint-Mezard
- & Sophie Saunier
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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
- Andrew Kirby
- , Andreas Gnirke
- , David B Jaffe
- , Veronika Barešová
- , Nathalie Pochet
- , Brendan Blumenstiel
- , Chun Ye
- , Daniel Aird
- , Christine Stevens
- , James T Robinson
- , Moran N Cabili
- , Irit Gat-Viks
- , Edward Kelliher
- , Riza Daza
- , Matthew DeFelice
- , Helena Hůlková
- , Jana Sovová
- , Petr Vylet'al
- , Corinne Antignac
- , Mitchell Guttman
- , Robert E Handsaker
- , Danielle Perrin
- , Scott Steelman
- , Snaevar Sigurdsson
- , Steven J Scheinman
- , Carrie Sougnez
- , Kristian Cibulskis
- , Melissa Parkin
- , Todd Green
- , Elizabeth Rossin
- , Michael C Zody
- , Ramnik J Xavier
- , Martin R Pollak
- , Seth L Alper
- , Kerstin Lindblad-Toh
- , Stacey Gabriel
- , P Suzanne Hart
- , Aviv Regev
- , Chad Nusbaum
- , Stanislav Kmoch
- , Anthony J Bleyer
- , Eric S Lander
- & Mark J Daly
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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
- Marion Delous
- , Lekbir Baala
- , Rémi Salomon
- , Christine Laclef
- , Jeanette Vierkotten
- , Kàlmàn Tory
- , Christelle Golzio
- , Tiphanie Lacoste
- , Laurianne Besse
- , Catherine Ozilou
- , Imane Moutkine
- , Nathan E Hellman
- , Isabelle Anselme
- , Flora Silbermann
- , Christine Vesque
- , Christoph Gerhardt
- , Eleanor Rattenberry
- , Matthias T F Wolf
- , Marie Claire Gubler
- , Jéléna Martinovic
- , Féréchté Encha-Razavi
- , Nathalie Boddaert
- , Marie Gonzales
- , Marie Alice Macher
- , Hubert Nivet
- , Gérard Champion
- , Jean Pierre Berthélémé
- , Patrick Niaudet
- , Fiona McDonald
- , Friedhelm Hildebrandt
- , Colin A Johnson
- , Michel Vekemans
- , Corinne Antignac
- , Ulrich Rüther
- , Sylvie Schneider-Maunoury
- , Tania Attié-Bitach
- & Sophie Saunier
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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- 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 Hu
- , Yukiko Yamashita
- , Eamonn R Maher
- , Lisa M Guay-Woodford
- , Hartmut P H Neumann
- , Nicholas Obermüller
- , Robert K Koenekoop
- , Carsten Bergmann
- , Xiaoshu Bei
- , Richard A Lewis
- , Nicholas Katsanis
- , Vanda Lopes
- , David S Williams
- , Robert H Lyons
- , Chi V Dang
- , Daniela A Brito
- , Mónica Bettencourt Dias
- , Xinmin Zhang
- , James D Cavalcoli
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Eric A Pierce
- , Peter K Jackson
- , Corinne Antignac
- , Sophie Saunier
- , Ronald Roepman
- , Helene Dollfus
- , Hemant Khanna
- & Friedhelm Hildebrandt
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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
- Edgar A Otto
- , Bernhard Schermer
- , Tomoko Obara
- , John F O'Toole
- , Karl S Hiller
- , Adelheid M Mueller
- , Rainer G Ruf
- , Julia Hoefele
- , Frank Beekmann
- , Daniel Landau
- , John W Foreman
- , Judith A Goodship
- , Tom Strachan
- , Andreas Kispert
- , Matthias T Wolf
- , Marie F Gagnadoux
- , Hubert Nivet
- , Corinne Antignac
- , Gerd Walz
- , Iain A Drummond
- , Thomas Benzing
- & Friedhelm Hildebrandt
