Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis von Eymard-Pierre, Eleonore, Yamanaka, Koji, Haeussler, Martin, Kress, Wolfram, Gauthier-Barichard, Fernande, Combes, Patricia, Cleveland, Don W., Boespflug-Tanguy, Odile

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Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations von Cailloux, Fabrice, Gauthier-Barichard, Fernande, Mimault, Corinne, Isabelle, Valerie, Courtois, Virginie, Giraud, Geneviève, Dastugue, Bernard, Boespflug-Tanguy, Odile

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Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure von Fogli, Anne, Gauthier-Barichard, Fernande, Schiffmann, Raphael, Vanderhoof, Vien H, Bakalov, Vladimir K, Nelson, Lawrence M, Boespflug-Tanguy, Odile

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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... von 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

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Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure von Fogli, Anne, Gauthier-Barichard, Fernande, Schiffmann, Raphael, Vanderhoof, Vien H, Bakalov, Vladimir K, Nelson, Lawrence M, Boespflug-Tanguy, Odile

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Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma von HENRY, I, JEANPIERRE, M, COUILLIN, P, BARICHARD, F, SERRE, J.-L, JOURNEL, H, LAMOUROUX, A, TURLEAU, C, DE GROUCHY, J, JUNIEN, C

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Single base pair germ-line deletion in the p53 gene in a cancer predisposed family von HAMELIN, R, BARICHARD, F, HENRY, I, JUNIEN, C, THOMAS, G

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Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family von Henry, Isabelle, Hoovers, Jan, Barichard, Fernande, Berthéas, Marie-Françoise, Puech, Anne, Prieur, Fabienne, Gessler, Manfred, Bruns, Gail, Mannens, Marcel, Junien, Claudine

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Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q34→7q22 von BARICHARD, F, JOULIN, V, HENRY, I, GAREL, M.-C, VALENTIN, C, ROSA, R, COHEN-SOLAL, M, JUNIEN, C

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Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family von Henry, Isabelle

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