Zobrazeno 1 - 10
of 24
pro vyhledávání: '"A.L. Mosca"'
Autor:
C. Thauvin-Robinet, Nathalie Marle, Thierry Rousseau, Francine Mugneret, Patrick Callier, Alice Masurel-Paulet, A.L. Mosca, Nicole Laurent, S. Couvreur, Laurence Faivre, Muriel Payet, Paul Sagot, H. Guy
Publikováno v:
American Journal of Medical Genetics Part A. 155:2031-2034
Autor:
M. Nouchy, A.L. Mosca, C. Thauvin-Robinet, Paul Coucke, A. De Paepe, Francine Mugneret, Laurence Faivre, Nathalie Marle, Dominique Dipanda, Patrick Callier, Frédéric Huet, Alice Masurel-Paulet
Publikováno v:
American Journal of Medical Genetics Part A. :1314-1317
Autor:
Frédéric Huet, C. Thauvin-Robinet, Jean-Raymond Teyssier, J. Guy, Laurence Faivre, D. Assous, Nathalie Marle, Patrick Callier, Alice Masurel-Paulet, Francine Mugneret, P. D'Athis, A.L. Mosca
Publikováno v:
American Journal of Medical Genetics Part A. :1323-1326
Autor:
Nathalie Marle, Nathalie Madinier, Francine Mugneret, S. Ragot, Christine Durand, Laurence Faivre, N. Méjean, Alice Masurel-Paulet, Patrick Callier, Frédéric Huet, G. Couillaud, A.L. Mosca, C. Thauvin-Robinet, Jean-Raymond Teyssier
Publikováno v:
American Journal of Medical Genetics Part A. :475-481
Polymicrogyria (PMG) is a relatively common malformation of the cortex for which the pathogenesis remains poorly understood. Both acquired and genetic causes are known, and to date more than 70 cases of PMG have been associated with chromosomal abnor
Autor:
Frédéric Huet, A.L. Mosca, Patrick Callier, C. Thauvin-Robinet, Nathalie Marle, Simon Guiraud, Jean-Raymond Teyssier, Alice Masurel-Paulet, J. Guy, Laurence Faivre, L. Joly, P. D'Athis, Francine Mugneret
Publikováno v:
American Journal of Medical Genetics Part A. :2109-2115
Genosensor Array 300 (Abbott) is a multiplex platform for array-based comparative genomic hybridization that detects unbalanced genomic aberrations including whole chromosome gains/losses, microdeletions, duplications and unbalanced subtelomeric rear
Autor:
Laurence Faivre, Nathalie Marle, Frédéric Huet, A. Danino, Patrick Callier, C. Thauvin-Robinet, Francine Mugneret, G. Malka, S. Falcon-Eicher, M. Le Merrer, Alice Masurel-Paulet, J. Borgnon, A.L. Mosca
Publikováno v:
European Journal of Medical Genetics. 50:455-464
We report on a 26-year-old patient presenting with extremely short stature (height 72cm, weight 6.5kg, OFC 42.5cm), facial dysmorphism, cleft lip--palate, severe mental retardation and de novo 1q24.2--q25.2 and 12q24.31 interstitial deletion. He was
Autor:
Christel Thauvin-Robinet, A.L. Mosca, N. Méjean, Patrick Callier, Nathalie Marle, Francine Mugneret, Laurence Faivre, Frédéric Huet, Laurent Guibaud, Alice Masurel-Paulet, Mondher Chouchane, Douraied Ben Salem, Maurice Giroud
Publikováno v:
American journal of medical genetics. Part A. (7)
We describe a 46-month-old child presenting with developmental delay, mild facial dysmorphism, micropenis, strabismus and striking multiple cysts of the corpus callosum who was found to have a de novo interstitial 3.1 Mb 15q24.1q24.2 microdeletion us
Autor:
B. Leheup, Philippe Jonveaux, François Feillet, L. Coffinet, A.L. Mosca, Patrick Callier, M. Valduga, Nathalie Marle, M. Jalloul, Francine Mugneret
Publikováno v:
American journal of medical genetics. Part A. (12)
Constitutional interstitial deletions of 5q are relatively rare and most are poorly characterized cytogenetically. Consequently a definite karyotype-phenotype correlation is difficult to establish. We report on a new case of a girl presenting with an
Autor:
Marianne Grimaldi, Jean-Bernard Gouyon, Frédéric Huet, Laurence Faivre, Dominique Sandre, A.L. Mosca, Patrick Callier, Nicole Laurent, Laurent Guibaud, Christel Thauvin-Robinet, Francine Mugneret
Publikováno v:
European journal of medical genetics. 50(1)
Here we describe the clinical, histopathological and molecular studies of a female proband that died at 2 months of age in the context of a syndromic polymicrogyria. There was no significant family history. Clinical and radiological features included
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.