Zobrazeno 1 - 10
of 32
pro vyhledávání: '"A. Cavau"'
Publikováno v:
Annales françaises de médecine d’urgence. 12:87-94
Les crises fébriles (CF), définies comme des crises d’épilepsie en contexte fébrile chez un enfant âgé entre six mois et cinq ans sans infection du système nerveux central affectent entre 2 et 5 % des enfants. Leur pronostic à long terme es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c192b83885d2d120a01412a49539381d
https://doi.org/10.3166/afmu-2022-0389
https://doi.org/10.3166/afmu-2022-0389
Autor:
Damien Bonnet, Valérie Cormier-Daire, Briac Thierry, Zagorka Pejin, Caroline Michot, Christophe Delacourt, Maryse Bonnière, Muriel Le Bourgeois, Pauline Marzin, Gilles Phan, Sophie Rondeau, Andrea Dancasius, Diala Khraiche, Geneviève Baujat, Anne Cavau
Publikováno v:
Genetics in Medicine. 23:331-340
Purpose Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory involvement can result in poor prognosis. Dominant variants in the FBN1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51a485cab1dafb58e678e4e35de3049d
https://doi.org/10.1038/s41436-020-00994-x
https://doi.org/10.1038/s41436-020-00994-x
Autor:
Elena Capel, Aldert L. Zomer, Thomas Nussbaumer, Christine Bole, Brigitte Izac, Eric Frapy, Julie Meyer, Haniaa Bouzinba-Ségard, Emmanuelle Bille, Anne Jamet, Anne Cavau, Franck Letourneur, Sandrine Bourdoulous, Thomas Rattei, Xavier Nassif, Mathieu Coureuil
Publikováno v:
mBio, Vol 7, Iss 4 (2016)
ABSTRACT Neisseria meningitidis is a leading cause of bacterial meningitis and septicemia, affecting infants and adults worldwide. N. meningitidis is also a common inhabitant of the human nasopharynx and, as such, is highly adapted to its niche. Duri
Externí odkaz:
https://doaj.org/article/18206b351701404a886151e85e519b02
Autor:
Pauline, Marzin, Briac, Thierry, Andrea, Dancasius, Anne, Cavau, Caroline, Michot, Sophie, Rondeau, Geneviève, Baujat, Gilles, Phan, Maryse, Bonnière, Muriel, Le Bourgeois, Diala, Khraiche, Zagorka, Pejin, Damien, Bonnet, Christophe, Delacourt, Valérie, Cormier-Daire
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(2)
Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory involvement can result in poor prognosis. Dominant variants in the FBN1 and LTB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66cf118b5e3e1ac580710856b1ce99da
https://pubmed.ncbi.nlm.nih.gov/33082559
https://pubmed.ncbi.nlm.nih.gov/33082559
Publikováno v:
Annales Françaises de Médecine d'Urgence; Mar2022, Vol. 12 Issue 2, p87-94, 8p
Akademický článek
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Publikováno v:
Archives de Pédiatrie. 23:1161-1164
Resume Introduction L’exposition au mercure metallique peut causer des intoxications accidentelles severes dont l’expression clinique varie selon la voie d’intoxication, la dose, le delai et la duree d’exposition. Elle est devenue rare en Fra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f14625f832ec377730fc1516121fb62
https://doi.org/10.1016/j.arcped.2016.08.008
https://doi.org/10.1016/j.arcped.2016.08.008
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 23(11)
Exposure to metallic mercury can cause severe accidental intoxications in children, whose clinical symptoms can vary depending on the route of administration, the dose, as well as the time and duration of the exposure. It has become unusual in France
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::312014a21b234e995a74e738ee94f9fe
https://pubmed.ncbi.nlm.nih.gov/27692553
https://pubmed.ncbi.nlm.nih.gov/27692553
Autor:
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, Laugel, Vincent
Clinical pictures and brain MRI of patients #16 (mutated in ERCC5(XPG)). Sagittal T1 and axial T2-Flair (PPTX 970 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::281ac8be11bc16a06500194035b3e50f
Autor:
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, Laugel, Vincent
Clinical picture and molecular results of patients #17 (mutated in ERCC3(XPB)). A: clinical picture of patient #17. B: Patient #17 reads alignment (thanks to Alamut Visual) showing that both mutations c.296 T > C and c.325C > T were never observed on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ff5651061ba06449576a295f840a48