Search Results - "VOELCKEL, M. A"

French Professionals in Genetic Counselor Careers by Cordier, C., Taris, N., De Pauw, A., Sobol, H., Philip, N., Voelckel, M.-A.

“…The profession of genetic counseling in France was recognized in 2004, based on the recommendations of a mandate commissioned by the Health Minister to explore…”
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Is the locus for Costello syndrome on 11p? by Kerr, B, Mucchielli, M L, Sigaudy, S, Fabre, M, Saunier, P, Voelckel, M A, Howard, E, Elles, R, Eden, T O B, Black, G C, Philip, N

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Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap by KNIGHT, S. J. L, VOELCKEL, M. A, HIRST, M. C, FLANNERY, A. V, MONCLA, A, DAVIES, K. E

“…We have recently shown that the expression of the FRAXE fragile site in Xq28 is associated with the expansion of a GCC trinucleotide repeat. In the families…”
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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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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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A first molecular approach towards CGG repeat expansion in FMR1 gene in systemic lupus erythematosus and in Sjögren's syndrome: a preliminary report by Granel, B, Ravix, V, Pedeillier, K, Serratrice, J, Disdier, P, Voelckel, M A, Mattei, J F, Weiller, P J

“…Co-occurrent autoimmune disease and fragile X syndrome has been reported in the literature and we have therefore studied the expansion of…”
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Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome by SUTHERS, G. K, MULLEY, J. C, HAITES, N. E, OOSTRA, B. A, GINE, R, CARBALLO, M, MORRIS, C. P, HOPWOOD, J. J, SUTHERLAND, G. R, VOELCKEL, M. A, DAHL, N, VÄISÄNEN, M. L, STEINBACH, P, GLASS, I. A, SCHWARTZ, C. E, VAN OOST, B. A, THIBODEAU, S. N

“…The fragile X syndrome is the most common cause of familial mental retardation and is characterized by a fragile site at the end of the long arm of the X…”
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Characterization of cAMP dependent CFTR-chloride channels in human tracheal gland cells by BECQ, F, MERTEN, M. D, VOELCKEL, M. A, GOLA, M, FIGARELLA, C

“…Human tracheal gland cells are believed to be a major site at the origin of cystic fibrosis. Since this disease is due to mutations in a protein called CFTR,…”
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Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation by VOELCKEL, M. A, PHILIP, N, PIQUET, C, PELLISSIER, M. C, OBERIE, I, BIRG, F, MATTEI, M. GG, MATTEI, J. F

“…The fragile site Xq27-28 was observed in several individuals of a large family. It is expressed at a high frequency among the carrier females, even as adults,…”
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation by Rousseau, François, Heitz, Dominique, Biancalana, Valérie, Blumenfeld, Sandra, Kretz, Christine, Boué, Joëlle, Tommerup, Niels, Hagen, Carl Van Der, DeLozier-Blanchet, Célia, Croquette, Marie-Françoise, Gilgenkrantz, Simone, Jalbert, Pierre, Voelckel, Marie-Antoinette, Oberlé, Isabelle, Mandel, Jean-Louis

“…THE fragile X syndrome is the most common cause of inherited mental retardation and one of the most frequent genetic diseases. It is estimated to cause one…”
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Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation by VOELCKEL, M. A, MATTEI, M. G, N'GUYEN, C, PHILIP, N, BIRG, F, MATTEI, J. F

“…We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both…”
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Linkage homogeneity near the fragile X locus in normal and fragile X families by Suthers, G K, Mulley, J C, Voelckel, M A, Dahl, N, Väisänen, M L, Steinbach, P, Glass, I A, Schwartz, C E, van Oost, B A, Thibodeau, S N

“…The fragile X syndrome locus, FRAXA, is located at Xq27. Until recently, few polymorphic loci had been genetically mapped close to FRAXA. This has been…”
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Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients by Moncla, A, Malzac, P, Voelckel, M A, Auquier, P, Girardot, L, Mattei, M G, Philip, N, Mattei, J F, Lalande, M, Livet, M O

“…Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS…”
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Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach by Malzac, P, Moncla, A, Voelckel, M A, Livet, M O, Girardot, L, Mattei, M G, Mattei, J F

“…Prader-Willi syndrome (PWS) is a disorder characterized by neonatal hypotonia with poor suck, mild to moderate mental retardation, obesity beginning after 3 yr…”
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Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family by Chauve, Xavina, Missirian, Chantal, Malzac, Perrine, Girardot, Lydie, Guys, Jean-Michel, Louis, Claude, Philip, Nicole, Voelckel, Marie-Antoinette

“…The urofacial syndrome (UFS) or Ochoa syndrome has been reported as a rare autosomal recessive disorder comprising a uropathy and facial abnormalities. The…”
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Monosomy 21: a new case confirmed by in situ hybridization by PELLISSIER, M. C, PHILIP, N, VOELCKEL-BAETEMAN, M. A, MATTEI, M. G, MATTEI, J. F

“…A new case of total monosomy 21 in a newborn is described. The diagnosis was first made using the cytogenetic data; it was then confirmed by the dosage of…”
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Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses by Malzac, Perrine, Moncla, Anne, Pedeillier, Karinne, Van, Catherine Vo, Girardot, Lydie, Voelckel, Marie-Antoinette

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Transmission of mental retardation with fragile X site by two normal transmitter brothers by Pellissier, M C, Voelckel, M A, Piquet, C, Mattei, M G, Mattei, J F

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Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association by Oberlé, I, Boué, J, Croquette, M F, Voelckel, M A, Mattei, M G, Mandel, J L

“…We report on 3 families where the presence and segregation at high frequency of a fragile Xq27.3 site is not associated with the mutations and methylation…”
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Psychiatric genetic counseling: A mapping exercise by Moldovan, Ramona, McGhee, Kevin A., Coviello, Domenico, Hamang, Anniken, Inglis, Angela, Ingvoldstad Malmgren, Charlotta, Johansson‐Soller, Maria, Laurino, Mercy, Meiser, Bettina, Murphy, Lauren, Paneque, Milena, Papsuev, Oleg, Pawlak, Joanna, Rovira Moreno, Eulàlia, Serra‐Juhe, Clara, Shkedi‐Rafid, Shiri, Laing, Nakita, Voelckel, Marie‐Antoinette, Watson, Melanie, Austin, Jehannine C.

“…Psychiatric genetic counseling (PGC) is gradually developing globally, with countries in various stages of development. In some, PGC is established as a…”
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