Golli‐MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies
Vaurs‐Barriere, C., Bonnet‐Dupeyron, M‐N., Combes, P., Gauthier‐Barichard, F., Reveles, X. T., Schiffmann, R., Bertini, E., Rodriguez, D., Vago, P., Armour, J. A. L., Saugier‐Veber, P., Frebourg, T., Leach, R. J., Boespflug‐Tanguy, O.
Published in Annals of human genetics (01.01.2006)
Published in Annals of human genetics (01.01.2006)
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Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations
Cailloux, Fabrice, Gauthier-Barichard, Fernande, Mimault, Corinne, Isabelle, Valerie, Courtois, Virginie, Giraud, Geneviève, Dastugue, Bernard, Boespflug-Tanguy, Odile
Published in European journal of human genetics : EJHG (01.11.2000)
Published in European journal of human genetics : EJHG (01.11.2000)
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Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene
Brugman, F, Eymard-Pierre, E, van den Berg, L H, Wokke, J H J, Gauthier-Barichard, F, Boespflug-Tanguy, O
Published in Neurology (14.08.2007)
Published in Neurology (14.08.2007)
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PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies : identification of one partial triplication and two partial deletions of PLP1
COMBES, Patricia, BONNET-DUPEYRON, Marie-Noelle, GAUTHIER-BARICHARD, Fernande, SCHIFFMANN, Raphael, BERTINI, Enrico, RODRIGUEZ, Diana, ARMOUR, John A. L, BOESPFLUG-TANGUY, Odile, VAURS-BARRIERE, Catherine
Published in Neurogenetics (01.03.2006)
Published in Neurogenetics (01.03.2006)
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Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure
Fogli, Anne, Gauthier-Barichard, Fernande, Schiffmann, Raphael, Vanderhoof, Vien H, Bakalov, Vladimir K, Nelson, Lawrence M, Boespflug-Tanguy, Odile
Published in BMC women's health (26.10.2004)
Published in BMC women's health (26.10.2004)
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Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease
Cailloux, F, Gauthier-Barichard, F, Mimault, C, Isabelle, V, Courtois, V, Giraud, G, Dastugue, B, Boespflug-Tanguy, O
Published in European journal of human genetics : EJHG (01.11.2000)
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Published in European journal of human genetics : EJHG (01.11.2000)
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