Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Bertrand, Mace"'
Autor:
Alice Goldenberg, Gaël Nicolas, Maud Blanluet, Sandra Chantot-Bastaraud, Gabriella Vera, Boris Keren, Géraldine Joly-Helas, Thierry Frebourg, Didier Hannequin, Jean-Pierre Siffroi, Kévin Cassinari, Nathalie Le Meur, Bertrand Mace, Pascal Chambon
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2021, 185 (10), pp.3057-3061. ⟨10.1002/ajmg.a.62361⟩
American Journal of Medical Genetics Part A, 2021, 185 (10), pp.3057-3061. ⟨10.1002/ajmg.a.62361⟩
Balanced translocations are associated with a risk of transmission of unbalanced chromosomal rearrangements in the offspring. Such inherited chromosomal abnormalities are typically non-mosaic as they are present in the germline. We report the recurre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66be680ae747c9e43272f96b0c00bcd1
https://doi.org/10.1002/ajmg.a.62361
https://doi.org/10.1002/ajmg.a.62361
Autor:
Nathalie Le Meur, Juliette Coursimault, Pascal Chambon, Thierry Frebourg, Géraldine Joly-Helas, Alain Diguet, Kévin Cassinari, Eric Verspyck, Bertrand Mace, Stéphanie Torre
Publikováno v:
Morphologie. 103:85-86
Les difficultes du depistage de la trisomie 21 sur ADN libre circulant (ADNlc) sont aujourd’hui bien connues, avec au premier plan un risque de resultats errones en cas de mosaique confinee au placenta, de mosaicisme maternel ou fœtal, de patholog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea369f01e29dbc5fdd37434c4ba03124
https://doi.org/10.1016/j.morpho.2019.10.024
https://doi.org/10.1016/j.morpho.2019.10.024
Autor:
François Vialard, Cédric Le Caignec, Martine Doco-Fenzy, Nora Chelloug, Bertrand Mace, Henri Copin, Vincent Gatinois, Valentine Marquet, Patrick Callier, Paul Kuentz, Laetitia Gouas, Philippe Vago
Publikováno v:
Morphologie. 102:140-141
Introduction/Objectifs Les tests « ADN libre circulant » de depistage de la trisomie 21, developpes depuis 2008, sont fondes sur la recherche d’une surrepresentation de sequences du chromosome 21 d’origine fœtale au sein de l’ADN libre circu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::574aade485dc8fcdaaa26086a33ccc99
https://doi.org/10.1016/j.morpho.2018.07.124
https://doi.org/10.1016/j.morpho.2018.07.124
Autor:
Pascal Chambon, Géraldine Joly-Helas, Brigitte Leduc, Kévin Cassinari, Laetitia Trestard, Bertrand Mace, Thierry Frebourg
Publikováno v:
Morphologie. 102:141-142
Introduction/Objectifs L’aniridie est une malformation oculaire congenitale rare caracterisee par une hypoplasie ou une agenesie de l’iris et de la fovea. Cette malformation peut etre isolee ou syndromique avec une prevalence estimee entre 1/64 0
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::064c398ac4fb7c6ea57cdc14929ccd1d
https://doi.org/10.1016/j.morpho.2018.07.126
https://doi.org/10.1016/j.morpho.2018.07.126
Autor:
Joseph B. Stanford, A. Yoshida, Christine Decanter, Masato Fujisawa, S. Kokeguchi, R. Lafuente, T. Jegede, Ahmad O. Hammoud, François Marcelli, T. Suter, J.-M. Rigot, A. W. Meikle, A. Palumbo, Martine Albert, T. Ishikawa, M. Brassesco, M. Dini, G. Bahadur, S. Markakis, Louis Sibert, R. Carreras, Jacqueline Selva, M. Secco, L. Pozzi, K.K. Ahuja, Douglas T. Carrell, R. Pecorari, G. López, M. Santis, Marc Bailly, Mark Gibson, Miguel A. Checa, B. Clavier, N. Rives, Bertrand Mace, M. Zeeb, A. Papaxanthos, Masahide Shiotani, M. Jemec, F. De Angelis, G. Filippini, C.M. Peterson, Valérie Mitchell
Publikováno v:
Human Reproduction. 26:i6-i9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::feab1d39859d8804e1681e229da19486
https://doi.org/10.1093/humrep/26.s1.4
https://doi.org/10.1093/humrep/26.s1.4
Autor:
Annick Rossi, Hélène Moirot, Valérie Drouin-Garraud, Géraldine Joly-Helas, Pascale Saugier-Veber, Saad Abu Amara, Nathalie Le Meur, Thierry Frebourg, Alice Goldenberg, Stéphane Marret, Pascale Kleinfinger, Bertrand Mace, Gérard Blaysat, Christine Michel-Adde
Publikováno v:
American Journal of Medical Genetics Part A. :439-442
Holt-Oram syndrome, the major "heart-hand" syndrome is defined by the association of radial defects or triphalangeal thumbs and septal heart defects. The transmission is autosomal dominant and the causative gene has been shown to be TBX5, located on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6860661dbd60954cb2340bf96df6fb89
https://doi.org/10.1002/ajmg.a.30660
https://doi.org/10.1002/ajmg.a.30660
Autor:
C. Tiercin, C. de La Rochebrochard, B. Clavier, C Le Caignec, N. Rives, Géraldine Joly-Helas, Serge Romana, Bertrand Mace, Nathalie Mousset-Siméon, Hélène Moirot
Publikováno v:
Human reproduction (Oxford, England). 22(5)
Complex chromosomal rearrangements (CCRs) are rare events in human pathology and are usually considered to induce severe reproductive impairment by disturbing the meiotic process and producing unbalanced gametes responsible for high reproductive risk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71058e2e96c0d8c3303dd68623f6c65
https://pubmed.ncbi.nlm.nih.gov/17283038
https://pubmed.ncbi.nlm.nih.gov/17283038
Autor:
Nathalie, Le Meur, Alice, Goldenberg, Christine, Michel-Adde, Valérie, Drouin-Garraud, Gérard, Blaysat, Stéphane, Marret, Saad Abu, Amara, Hélène, Moirot, Géraldine, Joly-Hélas, Bertrand, Mace, Pascale, Kleinfinger, Pascale, Saugier-Veber, Thierry, Frébourg, Annick, Rossi
Publikováno v:
American journal of medical genetics. Part A. 134(4)
Holt-Oram syndrome, the major "heart-hand" syndrome is defined by the association of radial defects or triphalangeal thumbs and septal heart defects. The transmission is autosomal dominant and the causative gene has been shown to be TBX5, located on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c137b8757f045bf35aa7ce2f7a79c5a9
https://pubmed.ncbi.nlm.nih.gov/15810003
https://pubmed.ncbi.nlm.nih.gov/15810003
Publikováno v:
Journal of andrology. 26(1)
The frequencies of aneuploid and diploid spermatozoa were determined in 3 patients presenting a complete asthenozoospermia due to a primary and specific flagellar anomaly: patients 1 and 2 presented a "stump tail syndrome," more than 50% of spermatoz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::acd3a470eb97a50cb524041086a20854
https://pubmed.ncbi.nlm.nih.gov/15611568
https://pubmed.ncbi.nlm.nih.gov/15611568
Publikováno v:
International journal of cancer. 32(3)
AKR mice, known to develop spontaneous leukemia in almost 100% of cases, were studied throughout their life-span. Different treatments combining a potent immune stimulator, Corynebacterium parvum (CP), with interferon (IFN) and arginine butyrate were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14e66211b8d62e0d9ccdb1e2c95e68f1
https://pubmed.ncbi.nlm.nih.gov/6193071
https://pubmed.ncbi.nlm.nih.gov/6193071