P
Patrick Niaudet
Researcher at Necker-Enfants Malades Hospital
Publications - 266
Citations - 17735
Patrick Niaudet is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Transplantation & Nephrotic syndrome. The author has an hindex of 65, co-authored 260 publications receiving 16260 citations. Previous affiliations of Patrick Niaudet include University of Paris & French Institute of Health and Medical Research.
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Journal ArticleDOI
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
Nicolas Boute,Olivier Gribouval,Séverine Roselli,Hyunjoo Jean Lee,Arno Fuchshuber,Karin Dahan,Marie-Claire Gubler,Patrick Niaudet,Corinne Antignac +8 more
TL;DR: It is found that ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier.
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Strict blood-pressure control and progression of renal failure in children.
Antonella Trivelli,Stefano Picca,Mieczysław Litwin,Amira Peco-Antic,Sara Testa,Sevinç Emre,Alberto Caldas-Afonso,Patrick Niaudet,Aysin Bakkaloglu,Giovanni Montini,Ann-Margret Wingen,Peter Sallay,Nikola Jeck,Ulla Berg,Salim Caliskan,Simone Wygoda,Katharina Hohbach-Hohenfellner,Jiri Dusek,Tomasz Urasiński,Klaus Arbeiter,Thomas Neu,Jutta Gellermann,Michel Fischbach,Kristina Möller,Marianne Wigger,Licia Peruzzi,Otto Mehls,Franz Schaefer +27 more
TL;DR: Investigation of the long-term renoprotective effect of intensified blood-pressure control among children who were receiving a fixed high dose of an angiotensin-converting-enzyme (ACE) inhibitor revealed a substantial benefit with respect to renal function among children with chronic kidney disease.
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Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
Sandrine Barbaux,Patrick Niaudet,Marie-Claire Gubler,Jean-Pierre Grünfeld,Francis Jaubert,Frédérique Kuttenn,C Fekete,N. Souleyreau-Therville,Elisabeth Thibaud,Marc Fellous,Ken McElreavey +10 more
TL;DR: It is demonstrated that FS is caused by mutations in the donor splice site in intron 9 of WT1, with the predicted loss of the +KTS isoform ratio in patients with FS, as well as Denys-Drash syndrome, which has similar symptoms.
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Genetics and Outcome of Atypical Hemolytic Uremic Syndrome: A Nationwide French Series Comparing Children and Adults
Véronique Frémeaux-Bacchi,Fadi Fakhouri,Arnaud Garnier,Frank Bienaimé,Marie-Agnès Dragon-Durey,Stéphanie Ngo,Bruno Moulin,Aude Servais,François Provôt,Lionel Rostaing,Stéphane Burtey,Patrick Niaudet,Georges Deschênes,Yvon Lebranchu,Julien Zuber,Chantal Loirat +15 more
TL;DR: Mortality rate was higher in children than adults with aHUS, but renal prognosis was worse in adults than children, and in children, the prognosis strongly depends on the genetic background.
Journal ArticleDOI
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,Christine Laclef,Jeanette Vierkotten,Kálmán Tory,Christelle Golzio,Tiphanie Lacoste,Laurianne Besse,Laurianne Besse,Catherine Ozilou,Imane Moutkine,Nathan E. Hellman,Isabelle Anselme,Isabelle Anselme,Flora Silbermann,Christine Vesque,Christine Vesque,Christoph Gerhardt,Eleanor Rattenberry,Matthias T.F. Wolf,Marie Claire Gubler,Jelena Martinovic,Férechté 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,Sylvie Schneider-Maunoury,Tania Attié-Bitach,Sophie Saunier +41 more
TL;DR: Findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder.