F
Férechté Encha-Razavi
Researcher at Necker-Enfants Malades Hospital
Publications - 92
Citations - 5272
Férechté Encha-Razavi is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Lissencephaly & Meckel syndrome. The author has an hindex of 35, co-authored 88 publications receiving 4815 citations. Previous affiliations of Férechté Encha-Razavi include University of Paris & Paris Descartes University.
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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.
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Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome
Lekbir Baala,Sophie Audollent,Jelena Martinovic,Catherine Ozilou,Marie-Claude Babron,Sivanthiny Sivanandamoorthy,Sophie Saunier,Rémi Salomon,Marie Gonzales,Eleanor Rattenberry,Chantal Esculpavit,Annick Toutain,Claude Moraine,Philippe Parent,Pascale Marcorelles,Marie-Christine Dauge,Joelle Roume,Martine Le Merrer,Vardiella Meiner,Karen Meir,Françoise Menez,Anne-Marie Beaufrère,Christine Francannet,Julia Tantau,Martine Sinico,Yves Dumez,Fiona Macdonald,Arnold Munnich,Stanislas Lyonnet,Marie-Claire Gubler,Emmanuelle Génin,Colin A. Johnson,Michel Vekemans,Férechté Encha-Razavi,Tania Attié-Bitach +34 more
TL;DR: In this article, a genomewide linkage scan was performed using 10-cM-resolution microsatellite markers in eight families to identify new Meckel syndrome (MKS) loci.
Journal ArticleDOI
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
Karine Poirier,Yoann Saillour,Yoann Saillour,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Xavier H. Jaglin,Xavier H. Jaglin,Catherine Fallet-Bianco,Rima Nabbout,Laetitia Castelnau-Ptakhine,Laetitia Castelnau-Ptakhine,Agathe Roubertie,Tania Attié-Bitach,Isabelle Desguerre,Isabelle Desguerre,David Geneviève,Christine Barnerias,Boris Keren,Nicolas Lebrun,Nicolas Lebrun,Nathalie Boddaert,Férechté Encha-Razavi,Jamel Chelly,Jamel Chelly +23 more
TL;DR: The discovery of six novel missense mutations in the TUBB3 gene are reported, including one fetal case and one homozygous variation, in nine patients that all share cortical disorganization, axonal abnormalities associated with pontocerebellar hypoplasia, but with no ocular motility defects, CFEOM3.
Journal ArticleDOI
The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome
Lekbir Baala,S. Romano,Rana Khaddour,Sophie Saunier,Ursula M Smith,Sophie Audollent,Catherine Ozilou,Laurence Faivre,Nicole Laurent,Bernard Foliguet,Arnold Munnich,Stanislas Lyonnet,Rémi Salomon,Férechté Encha-Razavi,Marie-Claire Gubler,Nathalie Boddaert,Pascale de Lonlay,Colin A. Johnson,Michel Vekemans,Corinne Antignac,Tania Attié-Bitach +20 more
TL;DR: It is hypothesized that mutations in the recently identified MKS genes, MKS1 on chromosome 17q and MKS3 on 8q, may be a cause of Joubert syndrome, and mutation analysis ofMKS1 andMKS3 was identified in a series of patients with JS, thus defining MKSS3 as the sixth JS locus (JBTS6).
Journal ArticleDOI
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux,Sophie Thomas,Karlien L.M. Coene,Erica E. Davis,Yasemin Alanay,Gönöl Ogur,Elif Uz,Daniela Buzas,Céline Gomes,Sophie Patrier,Christopher L. Bennett,Nadia Elkhartoufi,Marie Hélène Saint Frison,Luc Rigonnot,N. Joye,Solenn Pruvost,Gülen Eda Utine,Koray Boduroğlu,Patrick Nitschke,L. Fertitta,Christel Thauvin-Robinet,Arnold Munnich,Valérie Cormier-Daire,Raoul C.M. Hennekam,Estelle Colin,Nurten A. Akarsu,Christine Bole-Feysot,Nicolas Cagnard,Alain Schmitt,Nicolas Goudin,Stanislas Lyonnet,Férechté Encha-Razavi,Jean Pierre Siffroi,Mark Winey,Nicholas Katsanis,Marie Gonzales,Michel Vekemans,Philip L. Beales,Tania Attié-Bitach +38 more
TL;DR: In this article, the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies.