Search Results - "Morel, CF"

Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures by Vincent, AK, Noor, A, Janson, A, Minassian, BA, Ayub, M, Vincent, JB, Morel, CF

“…Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF. Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls…”
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Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B 12 metabolism and transport by Morel, Chantal F., Watkins, David, Scott, Patrick, Rinaldo, Piero, Rosenblatt, David S.

“…Vitamin B 12 (cobalamin) is an essential cofactor for two enzymes: methionine synthase (MS), which requires methylcobalamin (MeCbl), and methylmalonyl-CoA…”
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Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay by Morel, Chantal F., Scott, Patrick, Christensen, Ernst, Rosenblatt, David S., Rozen, Rima

“…Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is characterized by varying degrees of developmental delay, motor and gait abnormalities,…”
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A fragile site at 10q23 (FRA10A) in a phenytoin-exposed fetus: a case report and review of the literature by Morel, Chantal F., Duncan, Alessandra M. V., Désilets, Valérie

“…Objective To report fragility at 10q23.3 in a fetus exposed to phenytoin during pregnancy. Review of the literature. Methods Amniocytes were cultured in A10…”
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