Search Results - "Gilardi, J. L."

Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy by Gilardi, J. L., Perrotin, F., Paillet, C., Blesson, S., Cave, H., Briault, S., Moraine, C.

“…Objective A study was conducted to explain the mechanism of an unusual discrepancy between short‐ and long‐term culture examination methods of chorionic villus…”
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Cartographic study : breakpoints in 1574 families carrying human reciprocal translocations by COHEN, O, CANS, C, CUILLEL, M, GILARDI, J. L, ROTH, H, MERMET, M.-A, JALBERT, P, DEMONGEOT, J

“…Reciprocal translocations (rcp) are among the most common constitutional chromosomal aberrations in man. Using a European database of 1574 families carrying…”
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Human familial autosomal reciprocal translocations by Cohen, O, Mermet, M A, Cans, C, Gilardi, J L, Simonet, A, Jalbert, P

“…Reciprocal translocations are one of the most frequently observed structural chromosome abnormalities. They are defined by a segment exchange between two…”
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FG syndrome: Linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3] by Dessay, Sabine, Moizard, Marie Pierre, Gilardi, Jean Louis, Opitz, John M., Middleton-Price, Helen, Pembrey, Marcus, Moraine, Claude, Briault, Sylvain

“…FG syndrome (OMIM 305450) is an X‐linked condition comprising mental retardation, congenital hypotonia, constipation or anal malformations, and a distinctive…”
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