المؤلفون: 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

المساهمون: Couvet, Sandrine, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique chromosomique [CHU Trousseau], CHU Trousseau [APHP], Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP]

المصدر: 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⟩

مصطلحات موضوعية: MESH: Abnormalities, Multiple, MESH: Chromosome Deletion, [SDV]Life Sciences [q-bio], MESH: Chromosomes, Human, Pair 2, Chromosomal translocation, Chromosomal rearrangement, postzygotic, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, MESH: Cervical Vertebrae, Germline, MESH: Intellectual Disability, MESH: Uniparental Disomy, Gene duplication, Genetics, medicine, MESH: In Situ Hybridization, Fluorescence, Genetics (clinical), MESH: Humans, medicine.diagnostic_test, MESH: Genetic Predisposition to Disease, MESH: Scoliosis, Chromosome, Karyotype, MESH: Male, MESH: Translocation, Genetic, MESH: Siblings, [SDV] Life Sciences [q-bio], MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Uniparental Isodisomy, rescue, unbalanced translocation, MESH: Chromosome Banding, MESH: Chromosomes, mosaic, MESH: Mosaicism, MESH: Kyphosis, MESH: Chromosomes, Human, Pair 11, MESH: Female, Fluorescence in situ hybridization

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66be680ae747c9e43272f96b0c00bcd1
https://doi.org/10.1002/ajmg.a.62361

المؤلفون: Brahim Arkoun, Ludovic Dumont, Jean-Pierre Milazzo, Agathe Way, Amandine Bironneau, Julien Wils, Bertrand Macé, Nathalie Rives

المصدر: PLoS ONE, Vol 10, Iss 2, p e0116660 (2015)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC4340963?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/6879a21906cb4e9aae49ee2c3de0277e

الاتاحة: https://doi.org/10.1371/journal.pone.0116660
https://doaj.org/article/6879a21906cb4e9aae49ee2c3de0277e

المؤلفون: Albanne Travers, Brahim Arkoun, Athmane Safsaf, Jean-Pierre Milazzo, Anne Absyte, Amandine Bironneau, Anne Perdrix, Louis Sibert, Bertrand Macé, Bruno Cauliez, Nathalie Rives

المصدر: PLoS ONE, Vol 8, Iss 12, p e82819 (2013)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC3857286?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/0bfcebfdca3a4bdf865e2e3cffcfcf8c

الاتاحة: https://doi.org/10.1371/journal.pone.0082819
https://doaj.org/article/0bfcebfdca3a4bdf865e2e3cffcfcf8c

المؤلفون: Nathalie Le Meur, Juliette Coursimault, Pascal Chambon, Thierry Frebourg, Géraldine Joly-Helas, Alain Diguet, Kévin Cassinari, Eric Verspyck, Bertrand Mace, Stéphanie Torre

المصدر: Morphologie. 103:85-86

مصطلحات موضوعية: Anatomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ea369f01e29dbc5fdd37434c4ba03124
https://doi.org/10.1016/j.morpho.2019.10.024

المؤلفون: 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

المصدر: Morphologie. 102:140-141

مصطلحات موضوعية: Anatomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::574aade485dc8fcdaaa26086a33ccc99
https://doi.org/10.1016/j.morpho.2018.07.124

المؤلفون: Pascal Chambon, Géraldine Joly-Helas, Brigitte Leduc, Kévin Cassinari, Laetitia Trestard, Bertrand Mace, Thierry Frebourg

المصدر: Morphologie. 102:141-142

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030106 microbiology, Anatomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::064c398ac4fb7c6ea57cdc14929ccd1d
https://doi.org/10.1016/j.morpho.2018.07.126

المؤلفون: 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

المصدر: Human Reproduction. 26:i6-i9

مصطلحات موضوعية: Andrology, Male factor, Reproductive Medicine, business.industry, Rehabilitation, Obstetrics and Gynecology, Medicine, Session (computer science), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::feab1d39859d8804e1681e229da19486
https://doi.org/10.1093/humrep/26.s1.4

المؤلفون: 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

المصدر: American Journal of Medical Genetics Part A. :439-442

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Holt–Oram syndrome, Genetic heterogeneity, Cytogenetics, Chromosome, Dysostosis, Karyotype, Radial aplasia, Locus (genetics), Biology, medicine.disease, medicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6860661dbd60954cb2340bf96df6fb89
https://doi.org/10.1002/ajmg.a.30660

المؤلفون: Bertrand, Macé

المصدر: Morphologie ; volume 95, issue 308, page 1-2 ; ISSN 1286-0115

الاتاحة: http://dx.doi.org/10.1016/j.morpho.2011.02.006
https://api.elsevier.com/content/article/PII:S1286011511000221?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1286011511000221?httpAccept=text/plain

المؤلفون: 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

المصدر: Human reproduction (Oxford, England). 22(5)

مصطلحات موضوعية: Infertility, Adult, Male, medicine.medical_treatment, Chromosomal translocation, Chromosomal rearrangement, Biology, Intracytoplasmic sperm injection, Translocation, Genetic, Male infertility, Andrology, Meiosis, Pregnancy, medicine, Humans, Sperm Injections, Intracytoplasmic, In Situ Hybridization, Fluorescence, Azoospermia, Chromosomes, Human, Pair 11, Rehabilitation, Infant, Newborn, Pregnancy Outcome, Obstetrics and Gynecology, Karyotype, medicine.disease, Reproductive Medicine, Chromosomes, Human, Pair 1, Amniocentesis, Female, Chromosomes, Human, Pair 4, Spermatogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71058e2e96c0d8c3303dd68623f6c65
https://pubmed.ncbi.nlm.nih.gov/17283038

المؤلفون: 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

المصدر: American journal of medical genetics. Part A. 134(4)

مصطلحات موضوعية: Chromosomes, Human, Pair 14, Heart Defects, Congenital, Male, Infant, Newborn, Infant, Syndrome, Chromosome Banding, Fatal Outcome, Karyotyping, Humans, Abnormalities, Multiple, Chromosome Deletion, Hand Deformities, Congenital, In Situ Hybridization, Fluorescence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c137b8757f045bf35aa7ce2f7a79c5a9
https://pubmed.ncbi.nlm.nih.gov/15810003

المؤلفون: Nathalie, Rives, Nathalie, Mousset-Simeon, Sophie, Mazurier, Bertrand, Mace

المصدر: Journal of andrology. 26(1)

مصطلحات موضوعية: Adult, Chromosome Aberrations, Male, Microscopy, Electron, Transmission, Flagella, Humans, Oligospermia, Sperm Injections, Intracytoplasmic, Aneuploidy, Spermatozoa, In Situ Hybridization, Fluorescence, Infertility, Male

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::acd3a470eb97a50cb524041086a20854
https://pubmed.ncbi.nlm.nih.gov/15611568

المؤلفون: Italina Cerutti, Charles Chany, Bertrand Mace

المصدر: International journal of cancer. 32(3)

مصطلحات موضوعية: Cancer Research, Lymphoma, Microgram, medicine.medical_treatment, Butyrate, Biology, Arginine, Mice, Mice, Inbred AKR, Immune system, Interferon, medicine, Neoplasm, Animals, Propionibacterium acnes, Survival rate, Leukemia, Experimental, Immunotherapy, medicine.disease, Molecular biology, Killer Cells, Natural, Leukemia, Butyrates, Oncology, Immunology, Female, Interferons, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14e66211b8d62e0d9ccdb1e2c95e68f1
https://pubmed.ncbi.nlm.nih.gov/6193071