B
Barbara Bardoni
Researcher at French Institute of Health and Medical Research
Publications - 107
Citations - 9994
Barbara Bardoni is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: FMR1 & Fragile X syndrome. The author has an hindex of 49, co-authored 104 publications receiving 9357 citations. Previous affiliations of Barbara Bardoni include Collège de France & Centre national de la recherche scientifique.
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Journal ArticleDOI
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
Elena Zanaria,Françoise Muscatelli,Barbara Bardoni,Tim M. Strom,S Guioli,Weiwen Guo,Enzo Lalli,Claudio Moser,Ann P. Walker,Edward R. B. McCabe,Thomas Meitinger,Anthony P. Monaco,Paolo Sassone-Corsi,Giovanna Camerino,Giovanna Camerino +14 more
TL;DR: The gene responsible for the disease, DAX-1, which is deleted or mutated in X-linked adrenal hypoplasia patients, is isolated and encodes a new member of the nuclear hormone receptor super-family displaying a novel DNA-binding domain.
Journal ArticleDOI
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.
Brunella Franco,S Guioli,Antonella Pragliola,Antonella Pragliola,Barbara Incerti,Barbara Bardoni,Rossana Tonlorenzi,Romeo Carrozzo,Elena Maestrini,Maura Pieretti,Patricia Taillon-Miller,Carolyn J. Brown,Huntington F. Willard,Charles B. Lawrence,M. Graziella Persico,Giovanna Camerino,Andrea Ballabio +16 more
TL;DR: A gene has now been isolated from the critical region on Xp22.3 to which Kallmann's syndrome locus has been assigned: this gene escapes X inactivation, has a homologue on the Y chromosome, and shows an unusual pattern of conservation across species.
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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
Françoise Muscatelli,Tim M. Strom,Ann P. Walker,Elena Zanaria,D Récan,Alfons Meindl,Barbara Bardoni,S Guioli,Günther Zehetner,W Rabl +9 more
TL;DR: It is reported that DAX-1 is deleted in 14 patients and point mutations were found in the coding region in DNA from 12 unrelated individuals, confirming that the DAx-1 gene is responsible for both X-linked AHC and HHG.
Journal ArticleDOI
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
Barbara Bardoni,Elena Zanaria,S Guioli,Giovanna Floridia,Kim C. Worley,G. Tonini,E Ferrante,Giuseppe Chiumello,E R McCabe,Marco Fraccaro +9 more
TL;DR: It is demonstrated that sex reversal results from the presence of two active copies of an Xp locus rather than from its rearrangement and that alterations at this locus constitute one of the causes of sex reversal in individuals with a normal 46,XY karyotype.
Journal ArticleDOI
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif.
Céline Schaeffer,Barbara Bardoni,Jean-Louis Mandel,Bernard Ehresmann,Chantal Ehresmann,Hervé Moine +5 more
TL;DR: The identification and characterization of a specific and high affinity binding site for FMRP in the RGG‐coding region of its own mRNA is reported, which contains a purine quartet motif that is essential for F MRP binding and can be substituted by a heterologous quartet‐forming motif.