B
Bernard Foliguet
Publications - 5
Citations - 530
Bernard Foliguet is an academic researcher. The author has contributed to research in topics: SNP array & Disease gene identification. The author has an hindex of 5, co-authored 5 publications receiving 496 citations.
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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).
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A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia
Lionel Arnaud,Carole Saison,Virginie Helias,Nicole Lucien,Dominique Steschenko,Marie-Catherine Giarratana,Claude Préhu,Bernard Foliguet,Lory Montout,Alexandre G. de Brevern,Alain Francina,Pierre Ripoche,Odile Fenneteau,Lydie Da Costa,T. Peyrard,Gail Coghlan,Niels Ove Illum,Henrik Birgens,Hannah Tamary,Achille Iolascon,Jean Delaunay,Gil Tchernia,Jean-Pierre Cartron +22 more
TL;DR: The study of this disease-causing mutation in KLF1 provides further insights into the roles of this transcription factor during erythropoiesis in humans.
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Renal Tubular Dysgenesis, a Not Uncommon Autosomal Recessive Disorder Leading to Oligohydramnios: Role of the Renin-Angiotensin System
Mireille Lacoste,Yi Cai,Liliane Guicharnaud,Françoise Mounier,Yves Dumez,Raymonde Bouvier,Frédérique Dijoud,Marie Gonzales,Jane Chatten,Anne-Lise Delezoide,Laurent Daniel,Madeleine Joubert,Nicole Laurent,Jacqueline Aziza,Tahya Sellami,Hatem Ben Amar,Catherine Jarnet,Anne Marie Frances,Farida Daïkha-Dahmane,Aurore Coulomb,Thomas Neuhaus,Bernard Foliguet,Pierre Chenal,Pascale Marcorelles,Jean Marie Gasc,Pierre Corvol,Marie Claire Gubler +26 more
TL;DR: The severity and the early onset of the clinical and pathologic expression of the disease underline the major importance of this system in fetal kidney function and development in humans.
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High‐throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy
Sophie Thomas,Férechté Encha-Razavi,Férechté Encha-Razavi,Louise Devisme,Heather C. Etchevers,Heather C. Etchevers,Bettina Bessieres-Grattagliano,Géraldine Goudefroye,Nadia Elkhartoufi,Emilie Pateau,Amale Ichkou,Maryse Bonnière,Pascale Marcorelle,Philippe Parent,Sylvie Manouvrier,Muriel Holder,Annie Laquerrière,Laurence Loeuillet,Joelle Roume,Jelena Martinovic,Soumaya Mougou-Zerelli,Soumaya Mougou-Zerelli,Marie Gonzales,Vincent Meyer,Marc Wessner,Christine Bole Feysot,Patrick Nitschke,Nadia Leticee,Arnold Munnich,Arnold Munnich,Stanislas Lyonnet,Stanislas Lyonnet,Peter J. Wookey,Gabor Gyapay,Bernard Foliguet,Michel Vekemans,Michel Vekemans,Tania Attié-Bitach,Tania Attié-Bitach +38 more
TL;DR: A striking absence of alpha‐smooth muscle actin immunostaining in abnormal vessels in fetal PGV brains, suggests a deficit in pericytes, cells essential for capillary stabilization and remodeling during brain angiogenesis, the first lethal disease‐causing gene to be identified by comprehensive HTS of an entire linkage interval.
Journal ArticleDOI
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.
Bettina Bessieres-Grattagliano,Bernard Foliguet,Louise Devisme,Laurence Loeuillet,Pascale Marcorelles,Maryse Bonnière,Annie Laquerrière,Catherine Fallet-Bianco,Jelena Martinovic,S. Zrelli,Nadia Leticee,V. Cayol,Heather C. Etchevers,Michel Vekemans,Michel Vekemans,Tania Attié-Bitach,Tania Attié-Bitach,Férechté Encha-Razavi,Férechté Encha-Razavi +18 more
TL;DR: The studies has expanded the description of FS to additional phenotypes, that could be called Fowler-like syndromes and suggest that the pathogenesis of PGV may be related to abnormal pericyte-dependent remodelling of the CNS vasculature, during CNS angiogenesis.