Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Dominique Caldari"'
Autor:
Saïd Bichali, Justine Uguen, Nathan Giroux, Bénédicte Romefort, Cécile Feildel-Fournial, Morgane Dumortier, Dalila Habes, Dominique Caldari
Publikováno v:
Cardiology in the Young. :1-3
Constrictive pericarditis is rare in children and can be difficult to diagnose. It has been described in adults after sclerotherapy of oesophageal varices but not in children. We report two cases of chronic constrictive pericarditis after sclerothera
Autor:
Nicola Dikow, Alyssa Bianzano, Robert Kopajtich, James R. Lupski, Gajja S. Salomons, Jennifer E. Posey, Saskia Biskup, Jill A. Rosenfeld, Bruce H. R. Wolffenbuttel, Dominic Lenz, Saskia B. Wortmann, Denise Horn, Urania Kotzaeridou, Joanne Hughes, Maya Huijberts, Simone Kathemann, Tobias B. Haack, Stefan Kölker, Elke Lainka, Ralf A. Husain, Fleur Vansenne, Sébastien Küry, Andrea Hanson-Kahn, Bertrand Isidor, Matias Wagner, Ellen Crushell, Inga Harting, Jonathan A. Bernstein, Lucia Laugwitz, Dominique Caldari, Desirée E.C. Smith, Marisa I. Mendes, Christian Staufner, Julian Schröter, Claire Reynolds, Heiko Brennenstuhl, Claudia Weiß, Bader Alhaddad, Holger Prokisch, Georg F. Hoffmann
Publikováno v:
Genet. Med. 22, 1863-1873 (2020)
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Purpose: Biallelic variants in LARS1, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of the clinical spectrum and genetic finding
Autor:
Julia H. Wildschutte, Marta G. Castelhano, Max F. Rothschild, Maria Kaukonen, Georgios Kellaris, Joshua A. Stern, Stéphane Bézieau, Laurence Legeai-Mallet, Shrinivas P. Mane, Dominique Debray, Hannes Lohi, Ottmar Distl, Laurence M. Occelli, Kinga M. Bujakowska, Marjo K. Hytönen, Oliver P. Forman, Elizabeth A. Wilcox, Richard Malik, Tosso Leeb, Ronald H.L. Li, Elizabeth L. Cadena, William F. Swanson, Teri L. Lear, Yoshihiko Yu, Robert J. Harvey, Dominique Caldari, Erica E. Davis, Bianca Haase, Eric A. Pierce, Reuben M. Buckley, Stephen P. Daiger, L. Martin, D. Aberdein, Clare Rusbridge, Simon M. Petersen-Jones, Edward I. Ginns, Daniel C. Koboldt, Benjamin Cogné, Lokuliyanage Dona Samudita Senaratne, Michael B. Gorin, Niels C Pedersen, Margret L. Casal, Xenia Latypova, Adam R. Boyko, Isabel Hernandez, Tomoki Kosho, Sara J. Bowne, Nicholas H. Dodman, Tomas F. Bergström, Nicholas Katsanis, Rebecca R. Bellone, Guylène Le Meur, Bertrand Isidor, Daisuke Hasegawa, Christopher B. Kaelin, Mathilde Nizon, Karen A. Terio, Paulo C. Alves, Leslie A. Lyons, Christopher R Helps, Eirik Frengen, Emilie Leclerc, William J. Murphy, Beth Shapiro, Mark A. Magnuson, Lorraine Fievet, Maria Longeri, Rory J. Todhunter, Jeffrey A. Brockman, Lori S. Sullivan, Dorian J. Garrick, Jens Häggström, Jonathan E. Fogle, N. Matthew Ellinwood, Wesley C. Warren, John S. Munday, Gregory S. Barsh
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.893-904. ⟨10.1016/j.ajhg.2020.04.005⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.893-904. ⟨10.1016/j.ajhg.2020.04.005⟩
Am J Hum Genet
Kinesin-2 enables ciliary assembly and maintenance as an anterograde intraflagellar transport (IFT) motor. Molecular motor activity is driven by a heterotrimeric complex comprised of KIF3A and KIF3B or KIF3C plus one non-motor subunit, KIFAP3. Using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48a8e4787ee74d7e392a0a9500b3f4d
https://hal.archives-ouvertes.fr/hal-03490699
https://hal.archives-ouvertes.fr/hal-03490699
Autor:
Dominique Caldari, Sophie Mirallié, Caroline Joyau, Cécile Dert, Marie Audrain, Alexandra Léger, Catherine Monteil-Ganiere, Caroline Hémont, Caroline Thomas
Publikováno v:
Journal of Crohn's and Colitis. 12:258-261
Azathioprine is commonly used in Crohn's disease. It has been administered to many pregnant women over many years without significant side effects. However, pancytopenia and severe combined immune deficiency-like disease have been reported in infants
Publikováno v:
Diseases of the Esophagus. 32
Esophageal reconstruction in long-gap atresia remains challenging for the surgeon. Complications of surgery, regardless of choices and methods proposed, are frequents, sometimes serious, and can significantly delay baby's feeding, with increased disr
Autor:
Corinne Borderon, Julien Gautry, Evelyne Marinier, Dominique Caldari, Cécile Lambe, Béatrice Dubern, Thierry Lamireau, Emmanuel Mas, Anne Turquet, Amandine Rubio, Alain Dabadie, Aurélie Comte, Noël Peretti, Marie Edith Coste, D. Guimber, Marie Leonard, Maeva Kyheng, Frédéric Gottrand, Delphine Ley
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2019, 68 (4), pp.585--590. ⟨10.1097/mpg.0000000000002236⟩
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2019, 68 (4), pp.585--590. ⟨10.1097/MPG.0000000000002236⟩
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2019, 68 (4), pp.585-590. ⟨10.1097/mpg.0000000000002236⟩
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2019, 68 (4), pp.585--590. ⟨10.1097/mpg.0000000000002236⟩
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2019, 68 (4), pp.585--590. ⟨10.1097/MPG.0000000000002236⟩
Journal of Pediatric Gastroenterology and Nutrition, Lippincott, Williams & Wilkins, 2019, 68 (4), pp.585-590. ⟨10.1097/mpg.0000000000002236⟩
International audience; OBJECTIVES: The use of semielemental diets concerns a small proportion of children on enteral nutrition whose characteristics have never been reported. Our aim was to describe a cohort of patients on home enteral nutrition wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acaf3f727db425d1d2a48eee364a418c
https://hal.archives-ouvertes.fr/hal-02195228
https://hal.archives-ouvertes.fr/hal-02195228
Autor:
Esther Guex, D. Picot, Gilbert Zeanandin, Pauline Coti, Laurence Dussaulx-Garin, Didier Quilliot, S. Layec, Dominique Caldari, F. Trivin, Ronan Thibault, Patrick Bachmann
Publikováno v:
Nutrition Clinique et Métabolisme. 30:206-214
Autor:
Gilbert Zeanandin, Pauline Coti Bertrand, Ronan Thibault, Didier Barnoud, Esther Guex, Didier Quilliot, Dominique Caldari, Patrick Bachmann
Publikováno v:
Nutrition Clinique et Métabolisme. 30:215-220
Resume La nutrition en site jejunal s’est encore developpee, particulierement lors de troubles de la deglutition, de reflux gastro-œsophagien et d’obstacle sur le tube digestif haut. L’acces au jejunum n’est plus reserve a la chirurgie mais
Autor:
Didier Quilliot, Florence Rossi, P. Roux, Pauline Coti Bertrand, Gilbert Zeanandin, Patrick Bachmann, Dominique Caldari, Esther Guex, Ronan Thibault
Publikováno v:
Nutrition Clinique et Métabolisme. 30:92-97
Publikováno v:
Nutrition Clinique et Métabolisme. 29:267-273
Resume Plus de la moitie des enfants ayant une maladie de Crohn sont denutris au diagnostic. Un des objectifs majeurs de la prise en charge de cette maladie a l’âge pediatrique est d’ameliorer l’etat nutritionnel pour assurer la meilleure croi