Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Narjes Guediche"'
Autor:
Azzedine Aboura, Sophie Brisset, Véronique Haddad, Luc Druart, Narjes Guediche, Lucie Tosca, A.E. Mas, Gérard Tachdjian, Olivier Picone, Aurore Coulomb L'Herminé
Publikováno v:
American Journal of Medical Genetics Part A. :894-900
Small supernumerary marker chromosome (sSMC) lacking alpha satellite DNA or endogenous centromere regions are rare and contain fully functional centromeres, called neocentromeres. We report on a woman with a 14-week gestation pregnancy with a cystic
Autor:
A. Briand-Suleau, L. Lecerf, A. Kara Terki, Anne Guiochon-Mantel, Lucie Tosca, C. Bas, M. Misrahi, Sophie Brisset, Narjes Guediche, Michel Goossens, Jacques Young, Gérard Tachdjian, B. Tou, Jérôme Bouligand
Publikováno v:
Reproductive BioMedicine Online. 24:72-82
Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by conventional banding cytogenetics. This study describes four patients with sSMC in relation with infertility. Patient 1 had
Autor:
C. Bas, M. Laroudie, P. Mabboux, Gérard Tachdjian, M. L. Maurin, Philippe Labrune, N. Guérin, Olivier Picone, D. Goldszmidt, J.-J. Benichou, Sophie Prevot, Narjes Guediche, Sophie Brisset
Publikováno v:
American Journal of Medical Genetics Part A. :464-471
The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first
Publikováno v:
Systems biology in reproductive medicine. 61(1)
Small supernumerary marker chromosomes (sSMC) are found about four times more frequently in subfertile compared to the general population. The reason for this finding is still unclear. However, a connection of interphase architecture and genome funct
Autor:
Laure Lecerf, Marc Nouchy, Dominique Cornet, Narjes Guediche, Michel Goossens, Sophie Brisset, Gérard Tachdjian, Lucie Tosca
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2012, 55 (12), pp.737-42. ⟨10.1016/j.ejmg.2012.09.002⟩
European Journal of Medical Genetics, Elsevier, 2012, 55 (12), pp.737-42. ⟨10.1016/j.ejmg.2012.09.002⟩
International audience; In this report, we describe a case of multiple small supernumerary marker chromosomes (sSMC) presenting with recurrent abortions. Peripheral blood lymphocytes of a young, healthy and non-consanguineous couple who asked for gen