Search Results - "Jaillard, S."

Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes by Ghieh, F, Barbotin, A L, Swierkowski-Blanchard, N, Leroy, C, Fortemps, J, Gerault, C, Hue, C, Mambu Mambueni, H, Jaillard, S, Albert, M, Bailly, M, Izard, V, Molina-Gomes, D, Marcelli, F, Prasivoravong, J, Serazin, V, Dieudonne, M N, Delcroix, M, Garchon, H J, Louboutin, A, Mandon-Pepin, B, Ferlicot, S, Vialard, F

“…Abstract STUDY QUESTION Could whole-exome sequencing (WES) be useful in clinical practice for men with maturation arrest (MA) after a first testicular sperm…”
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Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study by Egloff, M., Hervé, B., Quibel, T., Jaillard, S., Le Bouar, G., Uguen, K., Saliou, A.‐H., Valduga, M., Perdriolle, E., Coutton, C., Coston, A.‐L., Coussement, A., Anselem, O., Missirian, C., Bretelle, F., Prieur, F., Fanget, C., Muti, C., Jacquemot, M.‐C., Beneteau, C., Le Vaillant, C., Vekemans, M., Salomon, L. J., Vialard, F., Malan, V.

“…ABSTRACT Objective To determine the frequency and nature of copy number variants (CNVs) identified by chromosomal microarray analysis (CMA) in a large cohort…”
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Granulosa cells provide elimination of apoptotic oocytes through unconventional autophagy-assisted phagocytosis by Yefimova, M G, Lefevre, C, Bashamboo, A, Eozenou, C, Burel, A, Lavault, M T, Meunier, A C, Pimentel, C, Veau, S, Neyroud, A S, Jaillard, S, Jégou, B, Bourmeyster, N, Ravel, C

“…Abstract STUDY QUESTION Do human granulosa cells (GCs) ingest and destroy apoptotic oocytes? SUMMARY ANSWER Somatic GCs ingest and destroy apoptotic oocytes…”
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Anti-Müllerian hormone: A function beyond the Müllerian structures by Bertho, S., Neyroud, A.S., Brun, T., Jaillard, S., Bonnet, F., Ravel, C.

“…•The anti-Müllerian hormone (AMH) was first described as allowing regression of the epithelial embryonic Müllerian structures in males, which would otherwise…”
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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations by Le Meur, N, Holder-Espinasse, M, Jaillard, S, Goldenberg, A, Joriot, S, Amati-Bonneau, P, Guichet, A, Barth, M, Charollais, A, Journel, H, Auvin, S, Boucher, C, Kerckaert, J-P, David, V, Manouvrier-Hanu, S, Saugier-Veber, P, Frébourg, T, Dubourg, C, Andrieux, J, Bonneau, D

“…Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in…”
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Delineation of 15q13.3 microdeletions by Masurel-Paulet, A, Andrieux, J, Callier, P, Cuisset, JM, Le Caignec, C, Holder, M, Thauvin-Robinet, C, Doray, B, Flori, E, Alex-Cordier, MP, Beri, M, Boute, O, Delobel, B, Dieux, A, Vallee, L, Jaillard, S, Odent, S, Isidor, B, Beneteau, C, Vigneron, J, Bilan, F, Gilbert-Dussardier, B, Dubourg, C, Labalme, A, Bidon, C, Gautier, A, Pernes, P, Pinoit, JM, Huet, F, Mugneret, F, Aral, B, Jonveaux, P, Sanlaville, D, Faivre, L

“…Masurel‐Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin‐Robinet C, Doray B, Flori E, Alex‐Cordier MP, Beri M, Boute O, Delobel B,…”
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Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples by Mary, L., Fradin, M., Pasquier, L., Quelin, C., Loget, P., Le Lous, M., Le Bouar, G., Nivot-Adamiak, S., Lokchine, A., Dubourg, C., Jauffret, V., Nouyou, B., Henry, C., Launay, E., Odent, S., Jaillard, S., Belaud-Rotureau, M.A.

“…Differences of sex development (DSDs) are a group of congenital conditions characterized by a discrepancy between chromosomal, gonadal, and genital sex…”
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Mayer-Rokitansky-Küster-Hauser syndrome patients' interest, expectations and demands concerning uterus transplantation by Sousa, C, Carton, I, Jaillard, S, Cospain, A, Lavillaureix, A, Nyangoh Timoh, K, Juricic, M, Lavoué, V, Dion, L

“…To better understand patients' conditions and expectations before starting a uterus transplantation (UTx) program for women suffering from…”
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Anonymity of gamete donation and genetic testing by Neyroud, A-S, Roche, M, Domin, M, Jaillard, S, Ravel, C

“…Development of genetic testing direct-to-consumer (DTC) for recreational purposes, although prohibited in France, is a real challenge to the current practice…”
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Neo-oogenesis in the adult ovary: What do we know? by Sun, S, Pimentel, C, Yefimova, M, Jaillard, S, Ravel, C

“…For more than a decade, the existence of ovarian stem cells that can contribute to neo-oogenesis in the adult ovary is reported by some teams, challenging the…”
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Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis by Jaillard, S., Bashamboo, A., Pasquier, L., Belaud-Rotureau, M. A., McElreavey, K., Odent, S., Ravel, Célia

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Diagnostic Yield of Chromosomal Microarray Analysis in Fetuses With Isolated Increased Nuchal Translucency: A French Multicenter Study by Egloff, M, Hervé, B, Quibel, T, Jaillard, S, Le Bouar, G, Uguen, K, Saliou, A.-H, Valduga, M, Perdriolle, E, Coutton, C, Coston, A.-L, Coussement, A, Anselem, O, Missirian, C, Bretelle, F, Prieur, F, Fanget, C, Muti, C, Jacquemot, M.-C, Beneteau, C, Le Vaillant, C, Vekemans, M, Salomon, L J, Vialard, F, Malan, V

“…(Abstracted from Ultrasound Obstet Gynecol 2018;52:715–721)Nuchal translucency (NT) is a collection of fluid at the back of the fetal neck; its thickness can…”
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Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases by Gruchy, N., Vialard, F., Blondeel, E., Le Meur, N., Joly-Hélas, G., Chambon, P., Till, M., Herbaut-Graux, M., Vigouroux-Castera, A., Coussement, A., Lespinasse, J., Amblard, F., Jimenez, M., Lebel Roy Camille, L., Carré-Pigeon, F., Flori, E., Mugneret, F., Jaillard, S., Yardin, C., Harbuz, R., Collonge Rame, M., Vago, P., Valduga, M., Leporrier, N.

“…ABSTRACT Objectives The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess…”
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2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? by Jaillard, S, Dubourg, C, Gérard-Blanluet, M, Delahaye, A, Pasquier, L, Dupont, C, Henry, C, Tabet, A-C, Lucas, J, Aboura, A, David, V, Benzacken, B, Odent, S, Pipiras, E

“…Genome-wide screening of patients with mental retardation using array comparative genomic hybridisation (CGH) has identified several novel imbalances. With…”
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Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis by Démurger, F., Pasquier, L., Dubourg, C., Dupé, V., Gicquel, I., Evain, C., Ratié, L., Jaillard, S., Beri, M., Leheup, B., Lespinasse, J., Martin-Coignard, D., Mercier, S., Quelin, C., Loget, P., Marcorelles, P., Laquerrière, A., Bendavid, C., Odent, S., David, V.

“…Rhombencephalosynapsis is an uncommon, but increasingly recognized, cerebellar malformation defined as vermian agenesis with fusion of the hemispheres. The…”
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Aide médicale à la procréation, malformations congénitales et santé postnatale by Bouazzaoui, A, Launay, E, Lokchine, A, Quélin, C, Duros, S, G.-L. Bouar, Rouget, F, Vialard, F, Odent, S, M.-A. Belaud-Rotureau, Jaillard, S

“…L’infertilité est considérée comme un problème de santé publique majeur, et le recours aux traitements de l’infertilité est en augmentation. Chaque année, 200…”
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Pulmonary vasodilator effects of norepinephrine during the development of chronic pulmonary hypertension in neonatal lambs by Jaillard, S., Elbaz, F., Bresson-Just, S., Riou, Y., Houfflin-Debarge, V., Rakza, T., Larrue, B., Storme, L.

“…This experimental study was performed to determine the effects of norepinephrine on: (i) the pulmonary vascular tone during the development of pulmonary…”
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Pulmonary vascular effects of sildenafil on the development of chronic pulmonary hypertension in the ovine fetus by Larrue, B, Jaillard, S, Lorthioir, M, Roubliova, X, Butrous, G, Rakza, T, Warembourg, H, Storme, L

“…We investigated the pulmonary vascular effects of prophylactic use of sildenafil, a specific phosphodiesterase-5 inhibitor, in late-gestation fetal lambs with…”
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Effects of catecholamines on the pulmonary circulation in the ovine fetus by Jaillard, S, Houfflin-Debarge, V, Riou, Y, Rakza, T, Klosowski, S, Lequien, P, Storme, L

“…High levels of circulating catecholamines are found in the fetus, and fetal stress and birth induce a marked surge in catecholamine secretion. Little is known…”
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Effects of nociceptive stimuli on the pulmonary circulation in the ovine fetus by Houfflin-Debarge, V, Delelis, A, Jaillard, S, Larrue, B, Deruelle, P, Ducloy, A S, Puech, F, Storme, L

“…The fetus is able to exhibit a stress response to painful events, and stress hormones have been shown to modulate pulmonary vascular tone. At birth, the…”
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