Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Le Marec Bernard"'
Publikováno v:
In Annales de genetique 2001 44(1):1-3
Autor:
Angelo Selicorni, Maria Immacolata Ferrante, Odent Sylvie, Victoria Wright, Adrian S. Woolf, Le Marec Bernard, Sue Malcolm, Brunella Franco, Robin M. Winter, Francesco Scolari, Alessandro Bulfone, Michela Ghiani, Andrea Ballabio, Giovanna Giorgio, Linda Gammaro, Sally Feather
Publikováno v:
The American Journal of Human Genetics. 68:569-576
Oral-facial-digital type 1 syndrome (OFD1 [MIM 311200]) is transmitted as an X-linked dominant condition with lethality in males and is characterized by malformations of the face, oral cavity, and digits, and by a highly variable expressivity even wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f34e6085940ae15db6c77087228a529
https://doi.org/10.1086/318802
https://doi.org/10.1086/318802
Autor:
Lyonnet, Stanislas, Melle, Dominique, de Braekeleer, Marc, Laframboise, Rachel, Rey, Françoise, John, Simon W. M., Berthelon, Monique, Berthelot, Jacques, Journel, Hubert, Le Marec, Bernard, Parent, Philippe, de Parscau, Loïc, Saudubray, Jean-Marie, Rozen, Rima, Rey, Jean, Munnich, Arnold, Scriver, Charles R.
We performed mutation analysis and RFLP haplotype analysis of chromosomes associated with classical phenylketonuria (PKU) in contemporary French families. We also did genealogical reconstructions for seven obligate carriers in five contemporary Frenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::001c2fbbf586d842c4c6283702a4dd8b
https://europepmc.org/articles/PMC1682893/
https://europepmc.org/articles/PMC1682893/
Autor:
de Mollerat, Xavier J., Gurrieri, Fiorella, Morgan, Chad T., Sangiorgi, Eugenio, Everman, David B., Gaspari, Paola, Amiel, Jeanne, Bamshad, Michael J., Lyle, Robert, Blouin, Jean-Louis, Allanson, Judith E., Le Marec, Bernard, Wilson, Melba, Braverman, Nancy E., Radhakrishna, Uppala, Delozier-Blanchet, Celia, Abbott, Albert, Elghouzzi, Vincent, Antonarakis, Stylianos, Stevenson, Roger E.
Publikováno v:
Human Molecular Genetics; Aug2003, Vol. 12 Issue 16, p1959-1971, 13p
Autor:
Markiewicz, Sophie, DiSanto, James P., Chelly, Jamel, Fairweather, NIicolas, Le Marec, Bernard, Griscelli, Claude, Graeber, Manuel B., Muller, Ulrich, Fischer, Alain, Monaco, Anthony P., de Saint Basile, Geneviève
Publikováno v:
Human Molecular Genetics; Jun1993, Vol. 2 Issue 6, p651-654, 4p
Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia.
Publikováno v:
Journal of Medical Genetics; Apr1999, p330-332, 3p
Autor:
Poulain, Patrice, Milon, Joëlle, Frémont, Benjamin, Proudhon, Jean-François, Odent, Sylvie, Babut, Jean-Marie, Le Marec, Bernard, Grall, Jean-Yves, Giraud, Jean-Robert
Publikováno v:
In European Journal of Obstetrics and Gynecology 1994 54(3):185-190
Autor:
Junien, Claudine, Despoisse, Suzy, Turleau, Catherine, Nicolas, Henriette, Picard, François, Le Marec, Bernard, Kaplan, Jean-Claude, de Grouchy, Jean
Publikováno v:
In Cancer Genetics and Cytogenetics 1982 6(4):281-287
Autor:
Rouillac, Christelle, Roche, Olivier, Marchant, Dominique, Bachner, Lucien, Kobetz, Alexandra, Toulemont, Pierre-Jean, Orssaud, Christophe, Urvoy, Martine, Odent, Sylvie, Le Marec, Bernard, Abitbol, Marc, Dufier, Jean-Louis
Publikováno v:
In The American Journal of Human Genetics 1998 62(5):1117-1122
Autor:
Lyonnet, Stanislas, Pelet, Anna, Royer, Ghislaine, Delrieu, Olivier, Serville, Françoise, Le Marec, Bernard †, Gruensteudel, Anita ‡, Pfeiffer, Rudolf A. ‡, Briard, Marie-Louise, Dubay, Christopher §, Hors-Cayla, Marie-Claude, Merrer, Martine le, Munnich, Arnold
Publikováno v:
In Genomics 1992 14(2):508-510