Zobrazeno 1 - 10
of 63
pro vyhledávání: '"M C, De Blois"'
Autor:
Joris Andrieux, M-C de Blois, Sabine Quief, Stanislas Lyonnet, Christophe Roumier, Michel Vekemans, Brigitte Benzacken, Pierre Bitoun, J-P Kerckaert, S Geffroy, Bruno Delobel, H. De Leersnyder, Tania Attié-Bitach, Sophie Thomas, C. Villenet, Sylvie Manouvrier, S Lignon
Publikováno v:
Journal of Medical Genetics. 44:537-540
Smith-Magenis syndrome (SMS) is rare (prevalence 1 in 25 000) and is associated with psychomotor delay, a particular behavioural pattern and congenital anomalies. SMS is often due to a chromosomal deletion of4 Mb at the 17p11.2 locus, leading to hapl
Autor:
Florence Molinari, M. Le Merrer, Odile Raoul, Nigel P. Carter, Laurence Colleaux, Richard Redon, Valérie Cormier-Daire, Delphine Bacq, Arnold Munnich, Jeanne Amiel, Marlène Rio, Marguerite Prieur, Damien Sanlaville, Michel Vekemans, Guntram Borck, M-C de Blois, Stanislas Lyonnet
Publikováno v:
Clinical Genetics. 66:122-127
Mental retardation (MR) is the most common developmental disability, affecting approximately 2% of the population. The causes of MR are diverse and poorly understood, but chromosomal rearrangements account for 4-28% of cases, and duplications/deletio
Autor:
F Salefranque, Arnold Munnich, M-C de Blois, Jean-Louis Bresson, B Delhotal-Landes, J-C Souberbielle, H. De Leersnyder, A Mogenet
Publikováno v:
Journal of Medical Genetics. 40:74-78
First described by Smith et al 1 in 1982, Smith-Magenis syndrome (SMS) is a contiguous gene syndrome ascribed to interstitial deletions of chromosome 17p11.2. Clinical features include infantile hypotonia, characteristic craniofacial appearance, brac
Autor:
Monique Picq, L Allart, Laurence Faivre, M-C de Blois, P. Gosset, Damien Sanlaville, David Geneviève, Arnold Munnich, Michel Vekemans, S. Romana, Valérie Cormier-Daire
Publikováno v:
American Journal of Medical Genetics. :90-93
Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibro
Autor:
Catherine Ozilou, Arnold Munnich, Jeanne Amiel, Catherine Turleau, Valérie Cormier-Daire, S. Romana, M-C de Blois, Michel Vekemans, P. Gosset, Laurence Colleaux, Stanislas Lyonnet, M. Le Merrer, Odile Raoul, Solange Heuertz, Marguerite Prieur, Marlène Rio, Florence Molinari
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2002, 39 (4), pp.266-270. ⟨10.1136/jmg.39.4.266⟩
Journal of Medical Genetics, BMJ Publishing Group, 2002, 39 (4), pp.266-270. ⟨10.1136/jmg.39.4.266⟩
International audience; Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 1
Autor:
G Joly, Michel Vekemans, P. Gosset, Catherine Turleau, J-M Lapierre, Serge Romana, Catherine Ozilou, Laurence Colleaux, A Aurias, Marguerite Prieur, Arnold Munnich, M-C de Blois, Odile Raoul
Publikováno v:
Clinical Genetics. 60:212-219
Segmental aneusomy for small chromosomal regions has been shown to be a common cause of mental retardation and multiple congenital anomalies. A screening method for such chromosome aberrations that are not detected using standard cytogenetic techniqu
Autor:
M, Rio, G, Royer, S, Gobin, M C, de Blois, C, Ozilou, A, Bernheim, M, Nizon, A, Munnich, J-P, Bonnefont, S, Romana, M, Vekemans, C, Turleau, V, Malan
Publikováno v:
Clinical genetics. 84(1)
Although discordant phenotypes in monozygotic twins with developmental disorder are not an exception, underlying genetic discordance is rarely reported. Here, we report on the clinical and cytogenetic details of 4-year-old female monozygotic twins wi
Autor:
M. Le Merrer, Laurence Colleaux, Richard Redon, Odile Raoul, Marguerite Prieur, Arnold Munnich, Jeanne Amiel, Damien Sanlaville, Delphine Héron, M-C de Blois, Nigel P. Carter, Valérie Cormier-Daire, Anne Philippe, Stanislas Lyonnet, Michel Vekemans, M-L Jacquemont
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2006, 43 (11), pp.843-9. ⟨10.1136/jmg.2006.043166⟩
Journal of Medical Genetics, BMJ Publishing Group, 2006, 43 (11), pp.843-9. ⟨10.1136/jmg.2006.043166⟩
Background: Autism spectrum disorders (ASD) refer to a broader group of neurobiological conditions, pervasive developmental disorders. They are characterised by a symptomatic triad associated with qualitative changes in social interactions, defect in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e851cb5cef396d041d86c100542d6d4
https://hal.archives-ouvertes.fr/hal-02087878
https://hal.archives-ouvertes.fr/hal-02087878
Publikováno v:
Revue neurologique. 159
Smith-Magenis syndrome (SMS) is a genetic disease ascribed to an interstitial deletion on chromosome 17 (del 17p11); the prevalence is 1/25,000 births. The diagnosis is made on high-resolution karyotype confirmed by FISH. Clinical features include mi
Autor:
H K, Benailly, J M, Lapierre, B, Laudier, J, Amiel, T, Attié, M C, De Blois, M, Vekemans, S P, Romana
Publikováno v:
Clinical genetics. 64(3)
Hirschsprung's (HSCR) disease is a congenital intestinal malformation of the enteric nervous system. It is a multigenic malformation and until now, eight genes have been involved in the etiology of this disease: genes encoding proteins of the RET sig