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66. X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Author

Fiot, Elodie, primary, Zénaty, Delphine, additional, Boizeau, Priscilla, additional, Haignere, Jérémie, additional, Dos Santos, Sophie, additional, Léger, Juliane, additional, _, _, additional, Carel, J C, additional, Cabrol, S, additional, Chanson, P, additional, Christin-Maitre, S, additional, Courtillot, C, additional, Donadille, B, additional, Dulon, J, additional, Houang, M, additional, Nedelcu, M, additional, Netchine, I, additional, Polak, M, additional, Salenave, S, additional, Samara-Boustani, D, additional, Simon, D, additional, Touraine, P, additional, Viaud, M, additional, Bony, H, additional, Braun, K, additional, Desailloud, R, additional, Bertrand, A M, additional, Mignot, B, additional, Schillo, F, additional, Barat, P, additional, Kerlan, V, additional, Metz, C, additional, Sonnet, E, additional, Reznik, Y, additional, Ribault, V, additional, Carla, H, additional, Tauveron, I, additional, Bensignor, C, additional, Huet, F, additional, Verges, B, additional, Chabre, O, additional, Dupuis, C, additional, Spiteri, A, additional, Cartigny, M, additional, Stuckens, C, additional, Weill, J, additional, Lienhardt, A, additional, Naud-Saudreau, C, additional, Borson-Chazot, F, additional, Brac de la Perriere, A, additional, Pugeat, M, additional, Brue, T, additional, Reynaud, R, additional, Simonin, G, additional, Paris, F, additional, Sultan, C, additional, Leheup, B, additional, Weryha, G, additional, Baron, S, additional, Charbonnel, B, additional, Dubourdieu, S, additional, Baechler, E, additional, Fenichel, P, additional, Wagner, K, additional, Compain, F, additional, Crosnier, H, additional, Personnier, C, additional, Delemer, B, additional, Hecart, A C, additional, Souchon, P F, additional, De Kerdanet, M, additional, Galland, F, additional, Nivot-Adamiak, S, additional, Castanet, M, additional, Lecointre, C, additional, Richard, O, additional, Jeandidier, N, additional, Soskin, S, additional, Lecomte, P, additional, Pepin-Donat, M, additional, and Pierre, P, additional

Published
2019
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70. Les auteurs

Author

Chevalier, N., Raverot, G., Bachelot, A., Larger, E., Gourdy, P., Joubert, M., Potier, L., Andreelli, F., Barraud, S., Bouillet, B., Cazabat-Sage, L., Espiard, S., Feigerlova, E., Haissaguerre, M., Tatulashvili, S., Thuillier, P., Borson-Chazot, F., Chanson, P., Cosson, E., Desailloud, R., Disse, E., Gatta-Cherifi, B., Groussin-Rouiller, L., Kamenicky, P., Kerlan, V., Lefebvre, H., Reznik, Y., Roussel, R., Tabarin, A., Trémollières, F., Vantyghem, M.-Ch., Vergès, B., Vezzosi, D., Amar, L., Baudin, E., Bauduceau, B., Bennet, A., Bertherat, J., Bihan, H., Bouchard, P., Bouvattier, C., Bringer, J., Brucker, E., Brue, T., Carel, J.-C., Caron, P., Castinetti, F., Chabbert-Buffet, N., Chabre, O., Chanson, Ph., Christin-Maitre, S., Conte-Devolx, B., Courtillot, C., Delemer, B., Dewailly, D., Duron, F., Eskenazi, S., Fénichel, P., de Filippo, G., Gautier, J.-F., Germain, N., Guignat, L., Hadjadj, S., Hartemann, A., Hurel, C., Jeandidier, N., Klein, M., Kuhn, E., Kuhn, J.-M., Lecomte, P., Leenhardt, L., Linglart, A., Marechaud, R., Moulin, Ph., Niccoli-Sire, P., Orgiazzi, J., Penfornis, A., Plouin, P.-F., Pugeat, M., Raffin-Sanson, M.-L., Ribot, C., Rocher, L., Rodien, P., Rohmer, V., Salenave, S., Taieb, D., Tauveron, I., Thieblot, P., Tissier, M.-P., Touraine, P., Trémollière, F., Vambergue, A., Vialettes, B., Walter, T., Wemeau, J.-L., Weryha, G., and Young, J.

Published
2021
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72. Détection des parathyroïdes anormales en TEP/TDM 18Fcholine selon que calcémie et/ou PTHémie sont élevées ou pas, en HPT 1rehors insuffisance rénale : 1003 cas

Author

Talbot, J.N., Balogova, S., Aveline, C., Zhang Yin, J., Kerrou, K., Christin Maitre, S., Groussin, L., Haymann, J.P., Baujat, B., and Montravers, F.

Abstract

L’hyperparathyroïdie primaire (HPT1) est classiquement caractérisée par une PTHémie élevée du fait d’une ou plusieurs glandes parathyroïdes hyperfonctionnelles (PT) entrainant une hypercalcémie. Cependant, dans certains cas d’HPT démontrée par une épreuve de surcharge et/ou Ca ionisée anormale, PTHémie et/ou calcémie « totale » peuvent être dans les limites de la normale. Nous avons évalué les performances de la TEP/TDM FCH pour détecter les PT anormales selon que PTHémie et calcémie étaient ou pas dans l’intervalle normal. Parmi 1003 TEP/TDM FCH chez 971 patients atteints de HPT1, excluant HPT secondaire, en particulier IRC de grade >3 ou hémodialyse ou greffe rénale, et aussi HPT familiale génétiquement prouvée, 4 groupes ont été constitués : G0 (n=474) hypercalcémie avec PTHémie élevée, groupe de référence ; G1 (n=327) PTHémie élevée mais normocalcémie (<=2,6mmol/L) ; G2 (n=109) hypercalcémie (>2,6mmol/L) avec PTHémie inappropriée mais dans les limites de la normale ; G3 (n=93) calcémie et PTHémie normales. Nous avons déterminé dans chaque groupe le taux de positivité de la TEP FCH puis, chez les patients opérés (PTX), la sensibilité (Se) au niveau patient, la détection d’HPT multiglandulaire (MG), la Se et la spécificité (Sp) au niveau de la glande, avec l’histologie des PT reséquées pour étalon de vérité. Les foyers FCH douteux ont été considérés comme négatifs. Les résultats du groupe G0 ont été comparés à ceux des autres groupes par le test du chi-2, * note une différence significative p<0,05 si le test global 4x2 est significatif.

Published
2024
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74. Études des mutations du gène suppresseur de tumeur ARMC5 (Armadillo Repeat Containing 5) dans une large cohorte de patients présentant une hyperplasie macronodulaire bilatérale des surrénales (HMBS)

Author

Bouys, L., primary, Vaczlavik, A., additional, Espiard, S., additional, Tabarin, A., additional, Guignat, L., additional, Brue, T., additional, Touraine, P., additional, Chabre, O., additional, Lefebvre, H., additional, Borson-Chazot, F., additional, Christin-Maitre, S., additional, Assié, G., additional, North, M.O., additional, Bertherat, J., additional, and Sadoul, J.L., additional

Published
2018
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77. La lipomatose de Launois–Bensaude liée au gène MFN2, un nouveau syndrome lipodystrophique

Author

Vatier, C., primary, Capel, E., additional, Disse, E., additional, Stojkovic, T., additional, Cervera, P., additional, Auclair, M., additional, Mosbah, H., additional, Gourdy, P., additional, Barraud, S., additional, Cottereau, A.S., additional, Miquel, A., additional, Laville, M., additional, Delemer, B., additional, Tenenbaum, F., additional, Fève, B., additional, Christin-Maitre, S., additional, Lascols, O., additional, Jéru, I., additional, and Vigouroux, C., additional

Published
2018
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78. Impact on testicular function of a single ablative activity of 3.7 GBq radioactive iodine for differentiated thyroid carcinoma

Author

Bourcigaux, N, primary, Rubino, C, additional, Berthaud, I, additional, Toubert, M E, additional, Donadille, B, additional, Leenhardt, L, additional, Petrot-Keller, I, additional, Brailly-Tabard, S, additional, Fromigué, J, additional, de Vathaire, F, additional, Simon, T, additional, Siffroi, J P, additional, Schlumberger, M, additional, Bouchard, P, additional, and Christin-Maitre, S, additional

Published
2018
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79. Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study

Author

Vitellius, Géraldine, primary, Trabado, Séverine, additional, Hoeffel, Christine, additional, Bouligand, Jérôme, additional, Bennet, Antoine, additional, Castinetti, Frederic, additional, Decoudier, Bénédicte, additional, Guiochon-Mantel, Anne, additional, Lombes, Marc, additional, Delemer, Brigitte, additional, _, _, additional, Amiot-Chapoutot, F, additional, Ancelle, D, additional, Bertoin, F, additional, Brue, T, additional, Caron, P, additional, Borson-Chazot, F, additional, Christin-Maitre, S, additional, Chabre, O, additional, Dessailloud, R, additional, Estour, B, additional, Grulet, H, additional, Illouz, F, additional, Jeandidier, N, additional, Kerlan, V, additional, Klein, M, additional, Penfornis, A, additional, Pierre, P, additional, Tabarin, A, additional, Touraine, P, additional, Vantyghem, M C, additional, and Young, J, additional

Published
2018
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81. Impacts testiculaires du traitement par iode radioactif chez des hommes ayant un cancer thyroïdien : étude SAPIRA

Author

Bourcigaux, N., primary, Rubino, C., additional, Berthaud, I., additional, Donadille, B., additional, Toubert, M.E., additional, Leenhardt, L., additional, Corone, C., additional, Keller, I. Petrot, additional, Brailly, S., additional, Beaufaron, J., additional, De Vathaire, F., additional, Simon, T., additional, Siffroi, J.P., additional, Sclumberger, M., additional, Bouchard, P., additional, and Maitre, S. Christin, additional

Published
2017
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85. Position statement on the diagnosis and management of congenital pituitary deficiency in adults: the French National Diagnosis and Treatment Protocol (NDTP)

Author

Castets, S., Albarel, F., Bachelot, A., Brun, G., Bouligand, J., Briet, C., Bui Quoc, E., Cazabat, C., Chabbert-Buffet, C., Christin-Maitre, S., Courtillot, C., Cuny, T., De Filippo, G., Donadille, B., Illouz, F., Pellegrini, I., Reznik, Y., Saveanu, A., Teissier, N., Touraine, P., Vantyghem, MC., Vergier, J., Léger, J., Brue, T., and Reynaud, R.

Abstract

Pituitary deficiency, or hypopituitarism, is a rare chronic disease. It is defined by insufficient synthesis of one or more pituitary hormones (growth hormone, TSH, ACTH, LH-FSH, prolactin), whether or not associated with arginine vasopressin deficiency (formerly known as diabetes insipidus). In adult patients, it is usually acquired (notably during childhood), but can also be congenital, due to abnormal pituitary development. The present study focuses on congenital pituitary deficiency in adults, from diagnosis to follow-up, including special situations such as pregnancy or the elderly. The clinical presentation is highly variable, ranging from isolated deficit to multiple deficits, which may be part of a syndromic form or not. Diagnosis is based on a combination of clinical, biological (assessment of all hormonal axes), radiological (brain and hypothalamic-pituitary MRI) and genetic factors. Treatment consists in hormonal replacement therapy, adapted according to the period of life and the deficits, which may be progressive. Comorbidities, risk of complications and acute decompensation, and the impact on fertility and quality of life all require adaptative multidisciplinary care and long-term monitoring.

Published
2024
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86. Mixed ductal-pancreatic polypeptide-cell carcinoma of the pancreas

Author

Christin-Maitre S, Yann Parc, Jean-François Fléjou, Denis Chatelain, and Rolland Parc

Subjects
Mixed tumor, Pathology, medicine.medical_specialty, Histology, Pancreatic disease, biology, business.industry, Chromogranin A, General Medicine, Endocrine Syndrome, Ductal carcinoma, medicine.disease, Pathology and Forensic Medicine, medicine.anatomical_structure, medicine, biology.protein, Pancreatic polypeptide, Adenocarcinoma, Pancreas, business
Abstract

Mixed ductal–pancreatic polypeptide-cell carcinoma of the pancreas Aims: Mixed ductal-endocrine carcinomas of the pancreas are rare tumours with 10 cases reported in the English literature. We report the first case with a polypeptide-cell component. Methods and results: The tumour was fortuitouslydiscovered in a 72-year-old woman during the exploration of an endometrial adenocarcinoma. It measured 100 mm and was located in the tail of the pancreas. On microscopic examination two intermingled endocrine and exocrine components were present. The endocrine component consisted of trabeculae and solid nests composed of cells immunoreactive for chromogranin A, synaptophysin and pancreatic polypeptide, but negative for p53 and Bcl-2 proteins. The exocrine component was composed of tubules lined by atypical cylindrical cells immunoreactive for CK19, CEA, p53 and Bcl-2. The stroma of the endocrine component contained amyloid deposits. Conclusion: Mixed ductal–endocrine carcinomas of the pancreas are often described in middle-aged patients. The tumours are usually large and located in the head of the pancreas. An endocrine syndrome is rare and the prognosis is often unfavourable. We report the first case of mixed endocrine–exocrine carcinoma of the pancreas with a pancreatic polypeptide-cell component. The histogenesis of mixed carcinoma of the pancreas is still uncertain but the over-expression of p53 and Bcl-2 could play a major role in the neoplastic progression of the ductal component.

Published
2002

94. Transient Elastography and Combination of Fibrotest® and Transient Elastography for Diagnosis of Advanced Fibrosis and Cirrhosis in Patients with Alcoholic Liver Disease: A Prospective Multicenter Cohort Study

Author

Voican, C.S., primary, Louvet, A., additional, Trabut, J.-B., additional, Njiké-Nakseu, M., additional, Dharancy, S., additional, Sanchez, A., additional, Corouge, M., additional, Lamouri, K., additional, Lebrun, A., additional, Balian, A., additional, Prévot, S., additional, Lachgar, M., additional, Maitre, S., additional, Agostini, H., additional, Mathurin, P., additional, Perlemuter, G., additional, and Naveau, S., additional

Published
2016
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95. Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

Author

Thevenon, J, primary, Bourredjem, A, additional, Faivre, L, additional, Cardot-Bauters, C, additional, Calender, A, additional, Le Bras, M, additional, Giraud, S, additional, Niccoli, P, additional, Odou, M F, additional, Borson-Chazot, F, additional, Barlier, A, additional, Lombard-Bohas, C, additional, Clauser, E, additional, Tabarin, A, additional, Pasmant, E, additional, Chabre, O, additional, Castermans, E, additional, Ruszniewski, P, additional, Bertherat, J, additional, Delemer, B, additional, Christin-Maitre, S, additional, Beckers, A, additional, Guilhem, I, additional, Rohmer, V, additional, Goichot, B, additional, Caron, P, additional, Baudin, E, additional, Chanson, P, additional, Groussin, L, additional, Du Boullay, H, additional, Weryha, G, additional, Lecomte, P, additional, Schillo, F, additional, Bihan, H, additional, Archambeaud, F, additional, Kerlan, V, additional, Bourcigaux, N, additional, Kuhn, J M, additional, Vergès, B, additional, Rodier, M, additional, Renard, M, additional, Sadoul, J L, additional, Binquet, C, additional, and Goudet, P, additional

Published
2015
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100. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene

Author

Knauff, E.A., Franke, L., Es, M.A. van, Berg, L.H. van den, Schouw, Y.T. van der, Laven, J.S.E., Lambalk, C.B., Hoek, A., Goverde, A.J., Christin-Maitre, S., Hsueh, A.J., Wijmenga, C., Fauser, B.C.J.M., and Beerendonk, C.C.M.

Subjects
endocrine system diseases, female genital diseases and pregnancy complications
Abstract

BACKGROUND: Spontaneous premature ovarian failure (POF) occurs in 1% of women and has major implications for their fertility and health. Besides X chromosomal aberrations and fragile X premutations, no common genetic risk factor has so far been discovered in POF. Using high-density single nucleotide polymorphism (SNP) arrays, we set out to identify new genetic variants involved in this condition. METHODS: A genome-wide association study involving 309 158 SNPs was performed in 99 unrelated idiopathic Caucasian POF patients and 235 unrelated Caucasian female controls. A replication study on the most significant finding was performed. We specifically focused on chromosomal areas and candidate genes previously implicated in POF. RESULTS: Suggestive genome-wide significant association was observed for rs246246 (allele frequency P = 6.0 x 10(-7)) which mapped to an intron of ADAMTS19, a gene known to be up-regulated in the female mouse gonads during sexual differentiation. However, replication in an independent Dutch cohort (60 POF patients and 90 controls) could not confirm a clear association (P = 4.1 x 10(-5) in a joint analysis). We did not observe strong evidence for any of 74 selected POF candidate genes or linkage regions being associated with idiopathic POF in Caucasian females, although suggestive association (P < 0.005) was observed for SNPs that mapped in BDNF, CXCL12, LHR, USP9X and TAF4B. CONCLUSION: We observed a possible association between POF and a SNP in a biologically plausible candidate gene. Although limited by sample size, this proof-of-principle study's findings reveal ADAMTS19 as a possible candidate gene for POF and thus a larger follow-up study is warranted.

Published
2009

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