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I. Oberlé
Researcher at French Institute of Health and Medical Research
Publications - 39
Citations - 3057
I. Oberlé is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Fragile X syndrome & X chromosome. The author has an hindex of 21, co-authored 39 publications receiving 3017 citations. Previous affiliations of I. Oberlé include Centre national de la recherche scientifique.
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Journal ArticleDOI
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
I. Oberlé,François Rousseau,Dominique Heitz,Christine Kretz,Didier Devys,André Hanauer,Joëlle Boué,Bertheas Mf,Jean-Louis Mandel +8 more
TL;DR: expression of the fragile X syndrome appears to result from a two-step mutation as well as a highly localized methylation, and can easily be detected regardless of sex or phenotypic expression.
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
François Rousseau,Dominique Heitz,Valérie Biancalana,Sandra Blumenfeld,Christine Kretz,Joelle Boué,Niels Tommerup,Carl Birger van der Hagen,Célia Delozier-Blanchet,Marie Françoise Croquette,Simon Gilgenkrantz,Pierre Jalbert,Marie-Antoinette Voelckel,I. Oberlé,Jean-Louis Mandel +14 more
TL;DR: Direct diagnosis by DNA analysis is now an efficient and reliable primary test for the diagnosis of the fragile X syndrome after birth, as well as for prenatal diagnosis and genetic counseling.
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The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.
TL;DR: Probe St14 reveals one of the most polymorphic loci known to date in the human genome and should be of great use for the genetic study of three important diseases: hemophilia A, mental retardation with a fragile X chromosome, and adrenoleukodystrophy.
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Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.
TL;DR: The results validate the analysis of chorionic villi for direct prenatal diagnosis of the fragile X syndrome and indicate that somatic heterogeneity of the full mutation is established during the very early stages of embryogenesis.
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Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.
TL;DR: Preliminary data suggest that young females who show preferential presence of a full mutation on the active X in leucocytes may be at increased risk for mental retardation, and preliminary evidence for an age dependent decrease in the somatic heterogeneity of full mutations is obtained.