Search Results - "SAINT FRISON, M"

SARS‐CoV‐2 infection as cause of in‐utero fetal death: regional multicenter cohort study by Nkobetchou, M., Leruez‐Ville, M., Guilleminot, T., Roux, N., Petrilli, G., Guimiot, F., Saint‐Frison, M.‐H., Deryabin, I., Ville, Y., Faure‐Bardon, V.

“…ABSTRACT Objective Placental infection with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) can lead to placental insufficiency and in‐utero fetal…”
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Prenatal ultrasonographic diagnosis of polymicrogyria by Dhombres, F., Nahama‐Allouche, C., Gelot, A., Jouannic, J.‐M., Billette de Villemeur, T., Saint‐Frison, M.‐H., Ducou le Pointe, H., Garel, C.

“…We report a rare case of polymicrogyria diagnosed at 27 weeks' gestation on ultrasound examination and associated with cytomegalovirus (CMV) infection. The…”
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Tumor-to-tumor metastasis in a renal carcinoma: A rare and surprising event by Chanu, T, Pavel, C S, Saint-Frison, M-H, Hescot, S, Oro, H

“…Tumor-to-tumor metastasis is a very rare event. We report three cases of tumor metastasizing in a clear cell renal cell carcinoma: two breast carcinomas and a…”
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Papillary thyroid carcinoma: 6 cases from 2 families with associated lymphocytic thyroiditis harbouring RET/PTC rearrangements by MECHLER, C, BOUNACER, A, SUAREZ, H, SAINT FRISON, M, MAGOIS, C, AILLET, G, GAULIER, A

“…Familial papillary thyroid carcinoma (PTC) is a well recognized disease. However, genetic predisposition to familial PTC is rare and the molecular alterations…”
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Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations by Lefebvre, Mathilde, Bruel, Ange-Line, Tisserant, Emilie, Bourgon, Nicolas, Duffourd, Yannis, Collardeau-Frachon, Sophie, Attie-Bitach, Tania, Kuentz, Paul, Assoum, Mirna, Schaefer, Elise, El Chehadeh, Salima, Antal, Maria Cristina, Kremer, Valérie, Girard-Lemaitre, Françoise, Mandel, Jean-Louis, Lehalle, Daphne, Nambot, Sophie, Jean-Marçais, Nolwenn, Houcinat, Nada, Moutton, Sébastien, Marle, Nathalie, Lambert, Laetita, Jonveaux, Philippe, Foliguet, Bernard, Mazutti, Jean-Pierre, Gaillard, Dominique, Alanio, Elisabeth, Poirisier, Celine, Lebre, Anne-Sophie, Aubert-Lenoir, Marion, Arbez-Gindre, Francine, Odent, Sylvie, Quélin, Chloé, Loget, Philippe, Fradin, Melanie, Willems, Marjolaine, Bigi, Nicole, Perez, Marie-José, Blesson, Sophie, Francannet, Christine, Beaufrere, Anne-Marie, Patrier-Sallebert, Sophie, Guerrot, Anne-Marie, Goldenberg, Alice, Brehin, Anne-Claire, Lespinasse, James, Touraine, Renaud, Capri, Yline, Saint-Frison, Marie-Hélène, Laurent, Nicole, Philippe, Christophe, Tran Mau-Them, Frederic, Thevenon, Julien, Faivre, Laurence, Thauvin-Robinet, Christel, Vitobello, Antonio

“…Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some…”
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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects by Laquérriere, Annie, Maluenda, Jérome, Camus, Adrien, Fontenas, Laura, Dieterich, Klaus, Nolent, Flora, Zhou, Jié, Monnier, Nicole, Latour, Philippe, Gentil, Damien, Héron, Delphine, Desguerres, Isabelle, Landrieu, Pierre, Beneteau, Claire, Delaporte, Benoit, Bellesme, Céline, Baumann, Clarisse, Capri, Yline, Goldenberg, Alice, Lyonnet, Stanislas, Bonneau, Dominique, Estournet, Brigitte, Quijano-Roy, Susana, Francannet, Christine, Odent, Sylvie, Saint-Frison, Marie-Hélène, Sigaudy, Sabine, Figarella-Branger, Dominique, Gelot, Antoinette, Mussini, Jean-Marie, Lacroix, Catherine, Drouin-Garraud, Valerie, Malinge, Marie-Claire, Attié-Bitach, Tania, Bessieres, Bettina, Bonniere, Maryse, Encha-Razavi, Ferechte, Beaufrère, Anne-Marie, Khung-Savatovsky, Suonary, Perez, Marie José, Vasiljevic, Alexandre, Mercier, Sandra, Roume, Joelle, Trestard, Laetitia, Saugier-Veber, Pascale, Cordier, Marie-Pierre, Layet, Valérie, Legendre, Marine, Vigouroux-Castera, Adeline, Lunardi, Joel, Bayes, Monica, Jouk, Pierre S, Rigonnot, Luc, Granier, Michèle, Sternberg, Damien, Warszawski, Josiane, Gut, Ivo, Gonzales, Marie, Tawk, Marcel, Melki, Judith

“…Non-syndromic arthrogryposis multiplex congenita (AMC) is characterized by multiple congenital contractures resulting from reduced fetal mobility. Genetic…”
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Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis by Gonzales, Marie, Verloes, Alain, Frison, Marie‐Hélène Saint, Perrotez, Chantal, Bourdet, Odile, Encha‐Razavi, Ferechte, Joyé, Nicole, Taillemite, Jean‐Louis, Walbaum, Roland, Pfeiffer, Rudolf, Maroteaux, Pierre

“…We report on four patients from three families, with similar radiological findings: absent (or severely delayed) ossification of vertebral bodies and…”
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Unilateral ovarian metastatic localization revealing a squamous cell carcinoma of the uterine cervix by Marais-Saint Frison, M H, Vacher, B, Sabatier, P

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