Université Lille 2 Droit et Santé

Mercredi 18 septembre 2019
Université Lille 2
Service de la Recherche, de la Valorisation et de l'Information Scientifique (SeRVIS)
42, rue Paul Duez
59000 - Lille - France
TĂ©l. : +33 (0)3 20 96 52 20
Fax : +33 (0)3 20 96 43 38
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Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction RADEME
Contact

Pr. Sylvie Manouvrier-Hanu

CHRU de Lille
Clinique de Génétique médicale Guy Fontaine
Centre de référence maladies rares Anomalies du développement
HĂ´pital Jeanne de Flandre, 59037 Lille Cedex

TĂ©l. : +33 (0)3 20 44 49 11

Fax : +33 (0)3 20 44 49 01

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Principales publications de l'unité ces 5 dernières années extraites de SAMPRA

Duquennoy-Martinot V, Depoortère C, Deveaux C, Capon A, Abdelwahab O, François C & al , [Indications of the expansion in pediatric surgery. Experience of 30years and literature review].Ann Chir Plast Esthet, 2016


Hochart V, Lahoche A, Priso RH, Houfflin-Debarge V, Bassil A, Sharma D & al , Posterior urethral valves: are neonatal imaging findings predictive of renal function during early childhood?Pediatr Radiol, 2016


Duquennoy-Martinot V, Belkhou A, Pasquesoone L, Depoortère C, Guerreschi P , [Scar revision in children: Clinical situations and solutions].,Ann Chir Plast Esthet, 2016


Duquennoy-Martinot V, Aljudaibi N, Belkhou A, Depoortère C, Guerreschi P , [Is cosmetic surgery proposal to children and adolescents well-founded?]Ann Chir Plast Esthet, 2016


BĂ©ghin L, Coopman S, Schiff M, Vamecq J, Mention-Mulliez K, Hankard R & al , Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition.Clin Nutr, 2016


Gabert PE, Bodin F, Aljudaibi N, Duquennoy-Martinot V, Guerreschi P , The Transverse Musculocutaneous Gracilis Free Flap: Virtual Animation-Assisted Dissection and Application in Breast Reconstruction.Plast. Reconstr. Surg., 2016 , 1384-7


Bennis Y, Duquennoy-Martinot V, Guerreschi P , Epidemiologic Overview of Synkinesis in 353 Patients with Longstanding Facial Paralysis under Treatment with Botulinum Toxin for 11 years.Plast. Reconstr. Surg., 2016


Qassemyar A, Gabert PE, Kluza J, Duquennoy-Martinot V, Mortier L, Marchetti P & al , Patient-derived tumor xenograft strategies for informed management of patients with metastatic melanoma.Melanoma Res., 2016 , 245-53


Lolli V, Molinari F, Pruvo JP, Soto Ares G , Radiological and clinical features of cerebral sinovenous thrombosis in newborns and older children.,J Neuroradiol, 2016


FrĂ©nois F, Legrand P, Fribourg S , Sqt1p is an eight-bladed WD40 protein.Acta Crystallogr F Struct Biol Commun, 2016 , 59-64


Riot S, Devinck F, Aljudaibi N, Duquennoy-Martinot V, Guerreschi P , Tattooing of the nipple-areola complex in breast reconstruction: Technical noteAnn. Chir. Plast. Esthet., 2016 , 141-144


Benichou L, Labbe D, Le Louarn C, Guerreschi P , Facial palsy sequel and botulinum toxinAnn. Chir. Plast. Esthet., 2015 , 377-392


Vamecq J, Mention-Mulliez K, Leclerc F, Dobbelaere D , Opioid Facilitation of ?-Adrenergic Blockade: A New Pharmacological Condition?,Pharmaceuticals (Basel), 2015 , 664-74


Guerreschi P, Labbe D , Lengthening temporalis myoplasty: Technical refinementsAnn. Chir. Plast. Esthet., 2015 , 393-402


Humez S, Gibier JB, Recher M, Leteurtre S, Leroy X, Devisme L , Cardiac fibroma: A rare cause of sudden child deathAnn. Pathol., 2015 , 445-448


Bonnet A, Devienne M, De Broucker V, Duquennoy-Martinot V, Guerreschi P , Operating room fire: Should we mistrust alcoholic antiseptics?,Ann. Chir. Plast. Esthet., 2015 , 255-261


Guerreschi P, Labbe D , Lengthening Temporalis Myoplasty: A Surgical Tool for Dynamic Labial Commissure ReanimationFacial Plast. Surg., 2015 , 123-127


Risoud M, Aljudaibi N, Duquennoy-Martinot V, Guerreschi P , Long-term sequelae treatment of peripheral facial paralysis with botulinum toxin type A: Repartition and kinetics of doses usedAnn. Chir. Plast. Esthet., 2016 , 10-15


Ghoumid J, Petit F, Holder-Espinasse M, Jourdain AS, Guerra J, Dieux-Coeslier A & al , Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneityEur. J. Hum. Genet., 2016 , 44-50


Petit F, Jourdain AS, Holder-Espinasse M, Keren B, Andrieux J, Duterque-Coquillaud M & al , The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosisEur. J. Hum. Genet., 2016 , 37-43


Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O & al , 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patientsEur. J. Med. Genet., 2015 , 140-147


Briand G, Lemaire-Ewing S, Parente F, Garnotel R , Mass spectrometry and inherited metabolic diseases diagnosisAnn. Biol. Clin., 2015 , 93-106


Dobbelaere D, Leclerc F, Mention-Mulliez K, Vamecq J , Propranolol and lactatemia during hypovolemic shock: A case reportArch. Pediatr., 2015 , 292-295


Petit F, Plessis G, Decamp M, Cuisset JM, Blyth M, Pendlebury M & al , 21q21 deletion involving NCAM2: Report of 3 cases with neurodevelopmental disordersEur. J. Med. Genet., 2015 , 44-46


Hochart V, Verpillat P, Langlois C, Garabedian C, Bigot J, Debarge VH & al , The contribution of fetal MR imaging to the assessment of oesophageal atresiaEur. Radiol., 2015 , 306-314


Frenois F, Legrand P, Fribourg S , Sqt1p is an eight-bladed WD40 proteinActa Crystallogr. F-Struct. Biol. Commun., 2016 , 59-64

 

Thèses en cours

•Etudes métabolomiques par LCMS au service du diagnostic et du traitement des maladies héréditaires du métabolisme.
–Doctorant : Abdallah Jeoual
–Directeur de Thèse : Dr Malika Balduyck Université de Lille
–Encadrant industriel : Dr Térence Béghyn Société APTEEUS

•Déterminisme moléculaire des malformations des membres de type mains et pieds fendus
–Doctorant : Anne-Sophie Jourdain
–Directeur de Thèse : Dr Sylvie Manouvrier Université de Lille
–Co-directeur de Thèse : Dr Fabienne Escande CHRU de Lille

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