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

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

Publikováno v: European Journal of Endocrinology
European Journal of Endocrinology, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩
European Journal of Endocrinology, BioScientifica, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩

ObjectiveTurner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90141f9c76344ac051168fc9f8ff886a
https://doi.org/10.1530/eje-18-0878

Étude descriptive des manifestations dermatologiques des autres RASopathies au cours de la neurofibromatose de type 1

Autor: A.-C. Bursztejn, L. Rouyer Monitor, B. Leheup, E. Allado, J.-L. Schmutz

Publikováno v: Annales de Dermatologie et de Vénéréologie. 146:A248

Introduction La neurofibromatose de type 1 (NF1) est une maladie genetique frequente (incidence : 1/3500) qui possede une expressivite variable. Elle fait partie d’un ensemble d’affections genetiques regroupees sous le terme de RASopathies et com

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::86d97ac5e42e10295a15db2e2085561a
https://doi.org/10.1016/j.annder.2019.09.390

Analyse radio-clinique de la déformation de Madelung chez l’enfant

Autor: B. Leheup, F. Muller, P. Journeau, M. Aslan, Gilles Dautel, S. Huguet

Publikováno v: Revue de Chirurgie Orthopédique et Traumatologique. 100:S192-S195

Resume Introduction La deformation de Madelung est une dysplasie osseuse principalement observee chez les adolescentes, caracterisee par une epiphysiodese mediale precoce du radius distal. Il en resulte une bascule anterieure et mediale de la glene r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8e22c9d16537f5e1faca8dbf0dec22a3
https://doi.org/10.1016/j.rcot.2014.06.014

Contents Vol. 4, 2013

Autor: B. Leheup, V. David, J. Kaplan, L. Pasquier, D. Jonas, A. Laquerrière, C. Bendavid, E. Baselga, J.B. Mulliken, Augusto Rojas-Martinez, O. Patat, Juliana F. Mazzeu, L.M. Boon, R.M. Candido Sandri, I. Gicquel, A. Bygum, Thomas Haaf, M. Vikkula, Lizeth Martínez-Jacobo, Martin Poot, E. Burgdörfer, J. Tantau, C. Dubourg, N. Corsten-Janssen, Satz Mengensatzproduktion, Druck Reinhardt Druck Basel, H. Dornelles-Wawruk, Ana Cristina Victorino Krepischi, L.A. Ribeiro-Bicudo, C. van der Vleuten, M. Beri, P. Loget, P. Marcorelles, O. Bartsch, J.E. Chernos, S. Jaillard, S. Odent, C. Saucedo-Carrasco, A. Richieri-Costa, Carlos Córdova-Fletes, L. Ratié, Carla Rosenberg, F. Démurger, A. Ghalamkarpour, T. Dijkhuizen, C. Evain, J.P. van Tintelen, C.M.A. van Ravenswaaij-Arts, N. Chassaing, A. Irrthum, Aline Pic-Taylor, H.L. Nguyen, C. de Campos Legnaro, Rocio Ortiz-Lopez, M.S. Connelly, P. Brouillard, J.P.H. Wyse, C. Quelin, Fernando Rivas, A. Mendola, E. Fastré, U. Zechner, Iris Ferrari, D. Martin-Coignard, M.J. Schlögel, C. Fagerberg, H.P.N. Safatle, V. Dupé, D. Weise, R.B. Lowry, S. Mercier, I. Quere, B.F. Gamba, J. Lespinasse, M. Korenkov

Publikováno v: Molecular Syndromology. 4:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::39e58559fdb767099a266176e06a754a
https://doi.org/10.1159/000347016

[22q11.2 microdeletion syndrome: Analysis of the care pathway before the genetic diagnosis]

Autor: T, Ingrao, L, Lambert, M, Valduga, G, Bosser, E, Albuisson, B, Leheup

Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 24(11)

22q11.2 deletion syndrome (22q11.2DS) is a very broad phenotypic spectrum disorder. It can affect many organs or systems. 22q11.2DS is the most common microdeletion syndrome in humans, with a prevalence ranging from one in every 2000 to one in 4000 n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8e2f305bac1c6c19ee92d7cf10760baf
https://pubmed.ncbi.nlm.nih.gov/28967605