Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene
Svahn, J., Laforêt, P., Vial, C., Streichenberger, N., Romero, N., Bouchet-Séraphin, C., Bruneel, A., Dupré, T., Seta, N., Menassa, R., Michel-Calemard, L., Stojkovic, T.
Published in Neuromuscular disorders : NMD (01.07.2019)
Published in Neuromuscular disorders : NMD (01.07.2019)
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Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history
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.
Published in Clinical genetics (01.05.2015)
Published in Clinical genetics (01.05.2015)
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Journal Article
Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease
Michel-Calemard, L, Dijoud, F, Till, M, Lambert, JC, Vercherat, M, Tardy, V, Coubes, C, Morel, Y
Published in Clinical genetics (01.02.2009)
Published in Clinical genetics (01.02.2009)
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Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement
REY, R. A, BELVILLE, C, BOUVATTIER, C, BERTRAND, A.-M, LECOINTRE, C, SOSKIN, S, CABROL, S, CROSNIER, H, LEGER, J, LORTAT-JACOB, S, NICOLINO, M, RABL, W, NIHOUL-FEKETE, C, TOLEDO, S. P. A, BAS, F, GOMPEL, A, CZERNICHOW, P, CHATELAIN, P, RAPPAPORT, R, MOREL, Y, JOSSO, N, MICHEL-CALEMARD, L, FOREST, M. G, LAHLOU, N, JAUBERT, F, MOWSZOWICZ, I, DAVID, M, SAKA, N
Published in The journal of clinical endocrinology and metabolism (01.02.1999)
Published in The journal of clinical endocrinology and metabolism (01.02.1999)
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Journal Article
Campomelic Dysplasia: Echographic Suspicion in the First Trimester of Pregnancy and Final Diagnosis of Two Cases
Massardier, J., Roth, P., Michel-Calemard, L., Rudigoz, R.C., Bouvier, R., Dijoud, F., Arnould, P., Combourieu, D., Gaucherand, P.
Published in Fetal diagnosis and therapy (01.01.2008)
Published in Fetal diagnosis and therapy (01.01.2008)
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Journal Article
Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene
Lesca, G, Testard, H, Streichenberger, N, Pelissier, J-F, Lestra, C, Burel, E, Jonveaux, P, Michel-Calemard, L
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.03.2007)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.03.2007)
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Journal Article
Influence of SHBG Gene Pentanucleotide TAAAA Repeat and D327N Polymorphism on Serum Sex Hormone-Binding Globulin Concentration in Hirsute Women
Cousin, Patrice, Calemard-Michel, Laurence, Lejeune, Hervé, Raverot, Gérald, Yessaad, Nadia, Emptoz-Bonneton, Agnès, Morel, Yves, Pugeat, Michel
Published in The journal of clinical endocrinology and metabolism (01.02.2004)
Published in The journal of clinical endocrinology and metabolism (01.02.2004)
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Anomalies génétiques du récepteur aux androgènes et ambiguïté sexuelle avec fonction testiculaire normale à la naissance
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Conference Proceeding
Diagnostic criteria for cystic fibrosis in men with congenital absence of the vas deferens
Durieu, I, Bey-Omar, F, Rollet, J, Calemard, L, Boggio, D, Lejeune, H, Gilly, R, Morel, Y, Durand, D V
Published in Medicine (Baltimore) (01.01.1995)
Published in Medicine (Baltimore) (01.01.1995)
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Impact de l'étude familiale sur le pronostic et le conseil génétique chez un enfant porteur d'une délétion des exons 50-51 du gène de la dystrophine
Lesca, G., Testard, H., Streichenberger, N., Pelissier, J.-F., Lestra, C., Burel, E., Jonveaux, P., Michel-Calemard, L.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.03.2007)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.03.2007)
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Journal Article
A national French consensus on gene lists for NGS-based diagnosis of myopathies
Krahn, M., Biancalana, V., Michel-Calemard, L., Nectoux, J., Leturcq, F., Seraphin, C. Bouchet, Bourdain-Acquaviva, C., Froissart, R., Melki, J., Urtizberea, J., Molon, A., Campana-Salort, E., Pouget, J., Rendu, J., Petit, F., Metay, C., Seta, N., Sternberg, D., Faure, J., Cossée, M.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
P.330 - A national French consensus on gene lists for NGS-based diagnosis of myopathies
Krahn, M., Biancalana, V., Michel-Calemard, L., Nectoux, J., Leturcq, F., Seraphin, C. Bouchet, Bourdain-Acquaviva, C., Froissart, R., Melki, J., Urtizberea, J., Molon, A., Campana-Salort, E., Pouget, J., Rendu, J., Petit, F., Metay, C., Seta, N., Sternberg, D., Faure, J., Cossée, M.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Journal Article
Gonadal Dysgenesis Without Adrenal Insufficiency in a 46, XY Patient Heterozygous for the Nonsense C16X Mutation: A Case of SF1 Haploinsufficiency
Mallet, Delphine, Bretones, Patricia, Michel-Calemard, Laurence, Dijoud, Frederique, David, Michel, Morel, Yves
Published in The journal of clinical endocrinology and metabolism (01.10.2004)
Published in The journal of clinical endocrinology and metabolism (01.10.2004)
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Journal Article
conduite à tenir devant la découverte d'un état intersexué lors d'une grossesse
Morel, Y., Tardy, V., Calemard-Michel, L., Guibaud, L., Till, M., Forest, M.G.
Published in Journal de pédiatrie et de puériculture (2002)
Published in Journal de pédiatrie et de puériculture (2002)
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Conference Proceeding
Pseudoexon activation in the PKHD1 gene : a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease. Authors' reply
MICHEL-CALEMARD, L, DIJOUD, F, TILL, M, LAMBERT, J. C, VERCHERAT, M, TARDY, V, COUBES, C, MOREL, Y
Published in Clinical genetics (2009)
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Published in Clinical genetics (2009)
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Aetiological diagnosis of male sex ambiguity: a collaborative study
MOREL, Yves, REY, Rodolfo, DAVID, Michel, NIHOUL-FEKETE, Claire, FOREST, Maguelone G, JOSSO, Nathalie, TEINTURIER, Cécile, NICOLINO, Marc, MICHEL-CALEMARD, Laurence, MOWSZOWICZ, Irène, JAUBERT, Francis, FELLOUS, Marc, CHAUSSAIN, Jean-Louis, CHATELAIN, Pierre
Published in European journal of pediatrics (01.01.2002)
Published in European journal of pediatrics (01.01.2002)
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Journal Article
Aerosol administration of a recombinant adenovirus expressing CFTR to cystic fibrosis patients: a phase I clinical trial
Bellon, G, Michel-Calemard, L, Thouvenot, D, Jagneaux, V, Poitevin, F, Malcus, C, Accart, N, Layani, M P, Aymard, M, Bernon, H, Bienvenu, J, Courtney, M, Döring, G, Gilly, B, Gilly, R, Lamy, D, Levrey, H, Morel, Y, Paulin, C, Perraud, F, Rodillon, L, Sené, C, So, S, Touraine-Moulin, F, Pavirani, A
Published in Human gene therapy (01.01.1997)
Published in Human gene therapy (01.01.1997)
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P0568 RELATIONSHIP BETWEEN NOVEL MTP (MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN) GENE MUTATIONS AND ABETALIPOPROTEINEMIA PHENOTYPE
PUGNET-CHARDON, L., SASSOLAS, A., MICHEL-CALEMARD, L., BOVIER-LAPIERRE, M., MOULIN, P., LACHAUX, A.
Published in Journal of pediatric gastroenterology and nutrition (01.06.2004)
Published in Journal of pediatric gastroenterology and nutrition (01.06.2004)
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P0568 RELATIONSHIP BETWEEN NOVEL MTP (MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN) GENE MUTATIONS AND ABETALIPOPROTEINEMIA PHENOTYPE
Pugnet‐Chardon, L., Sassolas, A., Michel‐Calemard, L., Bovier‐Lapierre, M., Moulin, P., Lachaux, A.
Published in Journal of pediatric gastroenterology and nutrition (01.06.2004)
Published in Journal of pediatric gastroenterology and nutrition (01.06.2004)
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Journal Article
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy
Gaspar, Harald, Michel-Calemard, Laurence, Morel, Yves, Wisser, Josef, Stallmach, Thomas, Schinzel, Albert
Published in Prenatal diagnosis (01.04.2006)
Published in Prenatal diagnosis (01.04.2006)
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