Search Results - "MALZAC, P"

Next-generation DNA sequencing in clinical diagnostics by Lacoste, C, Fabre, A, Pécheux, C, Lévy, N, Krahn, M, Malzac, P, Bonello-Palot, N, Badens, C, Bourgeois, P

“…The advent of next generation sequencing (NGS) technologies is so scale-changing that it modifies molecular diagnostics indications and induces laboratories to…”
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Parental experience following perinatal death: exploring the issues to make progress by Einaudi, M.A, Le Coz, P, Malzac, P, Michel, F, D’Ercole, C, Gire, C

“…Abstract Objectives This study was performed to understand the parental attitudes, needs and ethical issues associated with perinatal death, to assist in the…”
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Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history by Nguyen, K., Putoux, A., Busa, T., Cordier, M.P., Sigaudy, S., Till, M., Chabrol, B., Michel-Calemard, L., Bernard, R., Julia, S., Malzac, P., Labalme, A., Missirian, C., Edery, P., Popovici, C., Philip, N., Sanlaville, D.

“…Array comparative genomic hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and…”
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Mutation Analysis of UBE3A in Angelman Syndrome Patients by Malzac, Perrine, Webber, Hayley, Moncla, Anne, Graham, John M., Kukolich, Mary, Williams, Charles, Pagon, Roberta A., Ramsdell, Linda A., Kishino, Tatsuya, Wagstaff, Joseph

“…Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by…”
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Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children by Tauber, M, Barbeau, C, Jouret, B, Pienkowski, C, Malzac, P, Moncla, A, Rochiccioli, P

“…We report on the auxological and endocrine evolution of 28 patients presenting with Prader-Willi syndrome. Half of them received growth hormone (GH) therapy…”
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A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure by Lespinasse, J., North, M.O., Paravy, C., Brunel, M.J., Malzac, P., Blouin, J.L.

“…Balanced complex chromosomal rearrangements are very rare events in the human population. Translocations involving three or more chromosomes frequently lead to…”
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Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling by Moncla, Anne, Malzac, Perrine, Livet, Marie-Odile, Voelckel, Marie-Antoinette, Mancini, Josette, Delaroziere, Jean Christophe, Philip, Nicole, Mattei, Jean-François

“…Angelman syndrome (AS) is a neurological disorder with a heterogeneous genetic aetiology. It most frequently results from a de novo interstitial deletion in…”
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Genetic testing in the context of the revision of the French law on bioethics by Bonneau, D, Marlin, S, Sanlaville, D, Dupont, J-M, Sobol, H, Gonzales, M, Le Merrer, M, Malzac, P, Razavi, F, Manouvrier, S, Odent, S, Stoppa-Lyonnet, D

“…This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected…”
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Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation by Figarella-Branger, D., El-Dassouki, M., Saenz, A., Cobo, AM, Malzac, P., Tong, S., Cassotte, E., Azulay, J.P., Pouget, J., Pellissier, J.F.

“…The clinico-pathological features of 17 patients displaying a myopathy with lobulated (trabeculated) fibers are reported. All these patients had a limb girdle…”
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Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect by Mignon, C, Malzac, P, Moncla, A, Depetris, D, Roeckel, N, Croquette, M F, Mattei, M G

“…We report on clinical, cytogenetic and molecular analyses of 16 patients with inv dup (15) chromosome. We define the content of the inv dup (15) markers, their…”
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Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies by FIGARELLA-BRANGER, D, BAETA MACHADO, A. M, PUTZU, G. A, MALZAC, P, VOELCKEL, M. A, PELLISSIER, J. F

“…Exercise intolerance associated with myalgias, muscle cramps or myoglobinuria may be associated with a dystrophinopathy. A search for abnormal dystrophin…”
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Localization of a novel ryanodine receptor gene (RYR3) to human chromosome 15q14-q15 by in situ hybridization by Sorrentino, V, Giannini, G, Malzac, P, Mattei, M G

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Adoption : les fondements éthiques d'une réforme attendue by Le Coz, P., Malzac, P.

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Unexpected inheritance of the (CGG)n trinucleotide expansion in a fragile X syndrome family by Malzac, P, Biancalana, V, Voelckel, M A, Moncla, A, Pellissier, M C, Boccaccio, I, Mattei, J F

“…The fragile X syndrome is the most frequent cause of inherited mental retardation. CGG repeat alleles are usually classified as normal, premutation, or full…”
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Domestic gas sensor with micromachined optical tunable filter by Grasdepot, F., Alause, H., Knap, W., Malzac, J.P., Suski, J.

“…The use of an unmodified variable gap micromachined silicon differential pressure sensor as an electrically tunable interferometer of Pérot and Fabry for the…”
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Decision-making in termination of pregnancy: a French perspective by Gorincour, G, Tassy, S, Payot, A, Philip, N, Malzac, P, Harlé, J-R, Mattei, J-F, Le Coz, P

“…To evaluate the caregivers' opinions regarding decision-making in termination of pregnancy (TOP) for fetal anomaly. Questionnaire survey using a…”
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Le séquençage d’ADN à haut débit en pratique clinique by Lacoste, C., Fabre, Aude, Pécheux, C., Lévy, N., Krahn, M., Malzac, P., Bonello-Palot, N., Badens, C., Bourgeois, P.

“…The advent of next generation sequencing (NGS) technologies is so scale-changing that it modifies molecular diagnostics indications and induces laboratories to…”
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Unexpected Inheritance of the (CGG)(n) Trinucleotide Expansion in a Fragile X Syndrome Family by Boccaccio, I., Mattei, J.F., Malzac, P., Biancalana, V., Voelckel, M.A., Moncla, A., Pellissier, M.C.

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Chromosomal localization of the human and mouse histidine decarboxylase genes by in situ hybridization. Exclusion of the HDC gene from the Prader-Willi syndrome region by MALZAC, P, MATTEI, M.-G, THIBAULT, J, BRUNEAU, G

“…Using a rat histidine decarboxylase (HDC) cDNA probe, we have mapped the HDC gene by in situ hybridization to the q15-q21 region of human chromosome 15 and to…”
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Case report of apoptosis in testis of four AZFc-deleted patients: increased DNA fragmentation during meiosis, but decreased apoptotic markers in post-meiotic germ cells by Streichemberger, Eric, Perrin, Jeanne, Saias-Magnan, Jacqueline, Karsenty, Gilles, Malzac, Perrine, Grillo, Jean-Marie, Mitchell, Michael J., Metzler-Guillemain, Catherine

“…AZFc deletions of the Y chromosome are the major known genetic cause of spermatogenetic failure. Meiotic studies have shown a prevalence of synaptonemal…”
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