Growth charts in Kabuki syndrome 1

Autor: Claire Jeandel, Caroline Michot, Odile Boute, Mario Abaji, Stanislas Lyonnet, Julie Reversat, Lucile Pinson, Sandrine Akouete, Bertrand Isidor, Marie-Ange Delrue, Valérie Cormier-Daire, Isabelle Touitou, Pierre Sarda, Bérénice Doray, Tiffany Busa, Anne Moncla, Véra Georgescu, Alice Goldenberg, Damien Sanlaville, Cyril Amouroux, Elodie Sanchez, Mélanie Fradin, Guilaine Boursier, Didier Lacombe, Mouna Barat-Houari, Annick Toutain, Brigitte Gilbert-Dussardier, David Geneviève, Fabienne Giuliano, Kim Hanh Le Quan Sang, Joelle Roume, Marianne Till, Yves Alembick, Nicole Philip, Elise Schaefer, Marjolaine Willems, Claire Duflos, Aurélia Jacquette, Eudeline Alix, Sébastien Moutton, Adeline Bonnard, Vincent Gatinois, Marie-Pierre Cordier, Clarisse Baumann, Martine Le Merrer, Marie-Line Jacquemont, Lydie Burglen, Valentin Ruault, Laurence Faivre, Carole Corsini, Sylvie Manouvrier, Svetlana Gorokhova, Anna Pelet, Delphine Héron, Sylvie Odent, Jeanne Amiel

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩

Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718fdf522c2745d8a8745a662e693f8e
https://hal.umontpellier.fr/hal-03388687

Joint Bayesian weight and height postnatal growth model to study the effects of maternal smoking during pregnancy

Autor: Jérémie Botton, Barbara Heude, Marie-Aline Charles, Sophie Carles, Ismaïl Ahmed

Publikováno v: Statistics in Medicine
Statistics in Medicine, Wiley-Blackwell, 2017, 36 (25), pp.3990-4006. ⟨10.1002/sim.7407⟩
Statistics in Medicine, 2017, 36 (25), pp.3990-4006. ⟨10.1002/sim.7407⟩

International audience; Growth models used for describing the dynamics of body weight and height generally consider each trait independently. We proposed modeling height and weight trajectories jointly with a nonlinear heteroscedastic mixed model bas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3b56e52b8d10bb448f241b10a8aa9f0
https://hal.inrae.fr/hal-03382825

A Novel Method to Describe Early Offspring Body Mass Index (BMI) Trajectories and to Study Its Determinants

Autor: Sophie Carles, Marie-Aline Charles, Jérémie Botton, A. Forhan, Rémy Slama, Barbara Heude

Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2016, 11 (6), pp.e0157766. ⟨10.1371/journal.pone.0157766⟩
PLoS ONE, Vol 11, Iss 6, p e0157766 (2016)

Background Accurately characterizing children’s body mass index (BMI) trajectories and studying their determinants is a statistical challenge. There is a need to identify early public health measures for obesity prevention. We describe a method tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea5587181e2f834a0d3d605e10b8db9
https://hal.inrae.fr/hal-03403460

45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit

Autor: L. Homer, M. De Braekeleer, V. Amice, Frédéric Morel, M. Collet, M-T Le Martelot, V. Kerlan

Publikováno v: European Journal of Endocrinology
European Journal of Endocrinology, BioScientifica, 2010, 162 (3), pp.617-23. ⟨10.1530/EJE-09-0750⟩

ObjectiveTurner's syndrome (TS) is well known, but prognosis for 45,X/46,XX mosaicism below 30% of aneuploidy has not been established. We evaluated differences in clinical features and biological parameters between patients with numerical sex chromo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4892970fe144baf4d11246b15c6a9e51
https://doi.org/10.1530/eje-09-0750

Evaluation des paramètres nutritionnels en recherche clinique ambulatoire chez l’enfant

Autor: Vanhelst, J., Laurent BEGHIN

Publikováno v: Revue Medicale de Bruxelles
Revue Medicale de Bruxelles, Bureau D'information Medicale Amub, 2015, 36 (2), pp.85-94
ResearcherID

International audience; Nutritional status is represented by anthropometric characteristics, dietary intake and physical activity. Assessment of the nutritional status is therefore an important factor in the;health;promotion and in several childhood

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cf26d0b3461f66d189f79e26e35b7089
https://pubmed.ncbi.nlm.nih.gov/26164966