Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Dominique Le Tessier"'
Autor:
Laïla Allach El Khattabi, Christelle Rouillac-Le Sciellour, Dominique Le Tessier, Armelle Luscan, Audrey Coustier, Raphael Porcher, Rakia Bhouri, Juliette Nectoux, Valérie Sérazin, Thibaut Quibel, Laurent Mandelbrot, Vassilis Tsatsaris, François Vialard, Jean-Michel Dupont
Publikováno v:
PLoS ONE, Vol 11, Iss 5, p e0155009 (2016)
OBJECTIVE:NIPT for fetal aneuploidy by digital PCR has been hampered by the large number of PCR reactions needed to meet statistical requirements, preventing clinical application. Here, we designed an octoplex droplet digital PCR (ddPCR) assay which
Externí odkaz:
https://doaj.org/article/4c74b227089a4ed5b2456ee800e56f04
Autor:
Raphaël Porcher, Dominique Le Tessier, Valérie Serazin, François Vialard, Rakia Bhouri, Laurent Mandelbrot, Audrey Coustier, Laila El Khattabi, Armelle Luscan, Christelle Rouillac Le Sciellour, Juliette Nectoux, Vassilis Tsatsaris, Jean-Michel Dupont, Thibaut Quibel
Publikováno v:
PLoS ONE
PLoS ONE, Public Library of Science, 2016, ⟨10.1371/journal.pone.0155009⟩
PLoS ONE, Vol 11, Iss 5, p e0155009 (2016)
PLoS ONE, Public Library of Science, 2016, 〈10.1371/journal.pone.0155009〉
PLoS ONE, 2016, ⟨10.1371/journal.pone.0155009⟩
PLoS ONE, Public Library of Science, 2016, ⟨10.1371/journal.pone.0155009⟩
PLoS ONE, Vol 11, Iss 5, p e0155009 (2016)
PLoS ONE, Public Library of Science, 2016, 〈10.1371/journal.pone.0155009〉
PLoS ONE, 2016, ⟨10.1371/journal.pone.0155009⟩
Objective NIPT for fetal aneuploidy by digital PCR has been hampered by the large number of PCR reactions needed to meet statistical requirements, preventing clinical application. Here, we designed an octoplex droplet digital PCR (ddPCR) assay which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fad3e54e415461ba597d04527b944942
https://www.hal.inserm.fr/inserm-01322786/document
https://www.hal.inserm.fr/inserm-01322786/document
Autor:
Jean Michel Dupont, Sandrine Leclercq, Jacques Auger, Florence Eustache, C. Dupont, Aziza Lebbar, Françoise Baverel, Dominique Le Tessier
Publikováno v:
European Journal of Medical Genetics. 53:127-132
Numerous studies have shown that balanced reciprocal or Robertsonian translocations and inversions are associated with reduced or absent sperm production. In contrast, a similar association has been rarely reported for unbalanced translocations. An u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747129e748b5c60cf95f19cc7630052e
https://doi.org/10.1016/j.ejmg.2010.03.003
https://doi.org/10.1016/j.ejmg.2010.03.003
Autor:
Sandrine Leclercq, Dominique Le Tessier, Jean-Michel Dupont, Aziza Lebbar, Gilles Grangé, Vassilis Tsatsaris
Publikováno v:
Prenatal Diagnosis. 28:313-318
Objective To evaluate the medical and economic performance of three strategies for selecting patients eligible for interphase FISH in the prenatal diagnosis of common aneuploidies. Methods We evaluated three protocols on the same population that was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d9eacf955a96ca969a3b86b59492edd
https://doi.org/10.1002/pd.1959
https://doi.org/10.1002/pd.1959
Autor:
Françoise Baverel, Laurence Cuisset, Dominique Le Tessier, Géraldine Viot, Aziza Lebbar, Jerome Le Bozec, C. Dupont, Cecile Teinturier, Jean-Michel Dupont
Publikováno v:
American Journal of Medical Genetics Part A. :1236-1243
We report here on a 6-year-old boy referred to the laboratory for karyotyping and SHOX microdeletion testing. The most significant clinical findings in this boy were small stature, Madelung deformity, facial dysmorphism, mild mental retardation and b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae0ba8da6f6d58136cd3ea15f833c878
https://doi.org/10.1002/ajmg.a.31744
https://doi.org/10.1002/ajmg.a.31744
Autor:
D. Rabineau, Dominique Le Tessier, Pascale Auvinet, Aziza Lebarr, Jean-Michel Dupont, Michaëla Fontenay-Roupie, Olivier Dupuy, Serge Fichelson
Publikováno v:
Cancer Genetics and Cytogenetics. 101:12-15
Myelodysplastic syndromes (MDS) are clonal malignancies characterized by peripheral blood pancytopenia and signs of maturation disturbances of one or several cell lineages in bone marrow. MDS present as chimeras associating normal polyclonal and mali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6328cde50f2c3e36db44757c52c80f66
https://doi.org/10.1016/s0165-4608(97)00061-7
https://doi.org/10.1016/s0165-4608(97)00061-7
Autor:
Henriette A. Delemarre-van de Waal, Christine Petit, Marc Delpech, Philippe Bouchard, Françoise Baverel, Sylvie Compain-Nouaille, Marie-Laure Kottler, Christophe Pêcheux, Stefan Vermeulen, Nadia Soussi-Yanicostas, Dominique Le Tessier, Frank Speleman, Franco Sánchez-Franco, Roney S. Coimbra, Robert Saura, Sedigheh Delmaghani, Anne De Paepe, Yvan Bachelot, Jean-Claude Carel, Andrea Amalfitano, Catherine Dodé, Jean-Pierre Hardelin, Barbara Goulet-Salmon, Jacqueline Levilliers, Sylvie Cabrol, Jean-Michel Dupont, Jacques Young, Nathalie Le Dû, Corinne Cruaud, Odile Richard
Publikováno v:
Nature Genetics. 33:463-465
We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant form of Kallmann syndrome, KAL2. We establish here t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b8fe9bd675767bdbaeee8422a0c5acd
https://doi.org/10.1038/ng1122
https://doi.org/10.1038/ng1122
Autor:
Fatma Abdelhedi, Laurence Cuisset, Aziza Lebbar, Vassilis Tsatsaris, Dominique Le Tessier, Johanna Corcos, Julia Tantau, Jean-Michel Dupont
Publikováno v:
American journal of medical genetics. Part A. (3)
We report on a fetus with an isolated short femur detected by ultrasound and a de novo interstitial deletion of chromosome 15. The deletion was diagnosed prenatally by karyotype and further mapped by fluorescence in situ hybridization (FISH) and arra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f70af8ad1796df9c6a4d1ecb7e8ff460
https://pubmed.ncbi.nlm.nih.gov/22302515
https://pubmed.ncbi.nlm.nih.gov/22302515
Autor:
Sandrine Leclercq, Kim Maincent, Jean-Michel Dupont, Franck Letourneur, Françoise Baverel, Dominique Le Tessier, Aziza Lebbar
Publikováno v:
American journal of medical genetics. Part A. (3)
Inverted duplications with terminal deletions have been reported for an increasing number of chromosome ends. The best characterized and most frequent rearrangement reported involves the short arm of chromosome 8. It derives from non-allelic homologo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::179ce086e7af15f40d5a85f49e19b8aa
https://pubmed.ncbi.nlm.nih.gov/19206177
https://pubmed.ncbi.nlm.nih.gov/19206177
Autor:
Aziza Lebbar, Nathalie Marle, Patrick Callier, Dominique Le Tessier, Françoise Baverel, Jean-Michel Dupont, Catherine Patrat, Francine Mugneret
Publikováno v:
American journal of medical genetics. Part A. (20)
Structural chromosomal abnormalities can be associated with infertility through meiosis impairment or the formation of unbalanced gametes. Among these structural abnormalities, complex chromosomal rearrangements (CCR) relate to situations with more t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d367e4bbd03da3b1dfe198c2c5fffda
https://pubmed.ncbi.nlm.nih.gov/18798330
https://pubmed.ncbi.nlm.nih.gov/18798330