16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Autor: Aziza Lebbar, Sandra Chantot-Bastaraud, Catherine Yardin, Ghislaine Plessis, Patrick Edery, Damien Sanlaville, Laurence Faivre, Aline Receveur, Anne Claude Tabet, Solveig Heide, Laila El Khattabi, Patrick Callier, Christine Francannet, Alice Goldenberg, Eva Pipiras, Michèle Mathieu-Dramard, Chantal Missirian, Odile Boute-Benejean, Cécile Laroche, C. Francois-Fiquet, Pascal Garnier, Alice Masurel-Paulet, Nathalie Marle, Marion Gérard, Jean Michel Dupont, Alexandra Afenjar, Martine Doco Fenzy, Anne Moncla, Marie Pierre Cordier, Brigitte Benzacken, Jean-Hubert Caberg, Gaetan Lesca, Loïc de Pontual, Christine Ioos, Massimiliano Rossi, Nathalie Le Meur, Andrée Delahaye-Duriez, Joris Andrieux, Caroline Vincent-Delorme, Siham Chafai Elalaoui, Lesley Suiro, Philippe Vago, Anne-Laure Mosca-Boidron, Abdelhafid Natiq

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩

BackgroundThe clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4668558e248a2f20321235b0164a3f1
https://doi.org/10.1136/jmedgenet-2018-105389

Place du thermalisme en chirurgie plastique

Autor: F. Bodin, J. Caliot, A. Binet, C. Francois-Fiquet, M.-L. Poli Merol, N. Correia

Publikováno v: Annales de Chirurgie Plastique Esthétique. 61:16-22

Resume La cure thermale peut faire partie de la filiere de soins en chirurgie plastique. Les objectifs de cette etude etaient de faire un etat des lieux des connaissances sur le thermalisme et de preciser la place reservee au thermalisme par les chir

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8649a5187007fee3d4c498c7625a69cf
https://doi.org/10.1016/j.anplas.2015.03.008

Frequency and socio-psychological impact of taunting in school-age patients with cleft lip-palate surgical repair

Autor: P. Guerreschi, C. Francois-Fiquet, Cica Gbaguidi, P. Pellerin, C. Neiva, Marie-Laurence Poli-Merol, C. Frochisse, A. Lorot-Marchand, V. Martinot, B. Devauchelle

Publikováno v: International Journal of Pediatric Otorhinolaryngology. 79:1041-1048

Cleft lip-palate (CLP) is a "social" pathology because of its impact on the child's facial appearance and speech. School is the first place where children are confronted to others and when they start socializing. Taunting and bullying are common and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::701287c564e8232555fa369036ea40e9
https://doi.org/10.1016/j.ijporl.2015.04.024

Prune belly syndrome: modified Monfort abdominoplasty with a horizontal scar and a dermal layer

Autor: Stephen Lortat-Jacob, C. Francois-Fiquet, Arnaud Picard, Natacha Kadlub, Kessara Rem, Marc Mitrofanoff, Marie-Paule Vazquez, Thomas Blanc

Publikováno v: European Journal of Plastic Surgery. 38:225-228

Prune belly syndrome is a rare congenital disease occurring in 1/40,000 births, mostly in male patients. Abdominal hypoplasia has aesthetic and functional consequences on breathing, intestinal transit, and stature. Thus, the goal of the surgical trea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5a9adb036ad9c9de77bba9168f9b62fd
https://doi.org/10.1007/s00238-015-1089-y

Role of angiogenesis-related genes in cleft lip/palate: Review of the literature

Autor: P. Nguyen, M. Doco-Fenzy, C. Francois-Fiquet, E. Landais, D. Gaillard, Marie-Laurence Poli-Merol

Publikováno v: International Journal of Pediatric Otorhinolaryngology. 78:1579-1585

Objectives Cleft lip and cleft palate (CLP) are the most common congenital craniofacial anomalies. They have a multifactorial etiology and result from an incomplete fusion of the facial buds. Two main mechanisms, acting alone or interacting with each

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82cea0025485cfa33038804cc9925d48
https://doi.org/10.1016/j.ijporl.2014.08.001