GILBERT-DUSSARDIER Brigitte

PU-PH Génétique, HDR

 

  • PU-PH Génétique Médicale, CHU Poitiers, UFR Médecine-Pharmacie
  • Responsable de l’UF Génétique Clinique
  • Coordonnatrice Centre de Référence Anomalies du Développement –Ouest (CLAD-Ouest) Site Poitiers
  • Investigatrice Principale PHRC national 2010 : « Etude clinique, neuro-psychologique et moléculaire du Syndrome CHARGE »

 

Publications depuis 2011

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Beneteau C, Bilan F, Boute O, Busa T, Cormier V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jonch A, Martin D, Mercier S, Moutton S, Rooryck Thambo C, Schaefer E, Vincent M, Sanlaville D,  Le Caignec C, Jacquemont S, David A et Isidor B. Sex Chromosome Aneuploidies and Copy Number variants: a further explanation for neurodevelopmental prognosis variability? 2017  Eur J Human Genet 00, 1-5. doi:10.1038/ejhg.2017.93. [IF : 4,349]

Bruel AL,  Franco B,  Duffourd Y,  Thevenon J,   Jego L,  Lopez  E, Deleuze JF,  Doummar D, Giles RH, Johnson CA, . Huynen MA, Chevrier V,  Burglen L,  Desguerres I, Pierquin G,  Doray B,  Gilbert-Dussardier B, Reversade B,  Steichen-Berger E,  Baumann C,   Panigrah I,  Fargeot-Espaliat A,  Dieux A, David A,  Goldenberg A,  Bongers E,  Gaillard D, Argente J, Aral B, Gigot N,  St-Onge J, Birnbaum D,  Phadke S,  Cormier-Daire V,  Eguether T,  Pazour GJ, Herranz-Pérez V, Lee JS,  Pasquier L,  Loget P,  Saunier S,  Mégarbané A, Rosnet O, . Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB,  Faivre L,  Thauvin-Robinet C.  Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes 2017. J Med Genet Mar 13. pii: jmedgenet-2016-104436. doi: 10.1136/jmedgenet-2016-104436 [IF : 6,335]

Küry S, Besnard T, EbsteinF, Khan T, GambinT, Douglas J, Bacino CA, Sanders S, StringerK, LatypovaX, Pacault M, SacharowS, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho M, Roeder E, Denommé AS, Monaghan K,  Yuan B, XiaF, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S,  Toutain T, Shaw CA, Patel A,  Smith JL, Bi W,  Schmitt S, DebW, Nizon M, Mercier S, Vincent M, Malan V, Luzzi CD, Gomez Gutierrez A, Cogné B, Lupski JR, Stessman H, Eichler E, Retterer K, Yang Y, Redon R, Katsani N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B..De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder. Am J Hum Genet. 2017 ; 100:352-363. doi: 10.1016/j.ajhg.2017.01.003. [IF : 10,794]

Naoufal R, Legendre M, Couet D, Gilbert-Dussardier B, Kitzis A, Bilan F, Harbuz R. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability. 2016 Eur J Med Genet. http://dx.doi.org/10.1016/j.ejmg.2016.07.001   [IF : 1,466]

Dupuis-Girod S,  Ambrun A, Decullier E, Fargeton AE,  Roux A,   Bréant V, Colombet B,  Rivière S, Cartier C, Lacombe P,  Chinet T, Blondel JH,  Gilbert-Dussardier B, Dufour X, Harle JR, Dessi P  and Faure F. Bevacizumab nasal spray as a treatment for epistaxis in Hemorrhagic Hereditary Telangectasia. 2016, JAMA, Sep 6;316(9):934-942. [IF : 7,48]

Gilbert-Dussardier B,  Briand A, Laurendeau I, Bilan F, Cavé H,  Verloes A, Vidaud D,  Pasmant E. Copy number variants and rasopathies: description of a germline KRAS duplication in a patient with syndrome including pigmentation abnormalities. OJRD 2016, 11 : 101, sous presse

Gilbert-Dussardier B,  Briand A, Laurendeau I, Bilan F, Cavé H, Verloes A, Vidaud D, Pasmant E. Copy number variants and rasopathies: description of a germline KRAS duplication in a patient with syndrome including pigmentation abnormalities. 2016, ORPHANET J Rare Dis, sous presse

Reymond A, Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, Ilse van der Werf I … Sébastien Jacquemont and 16p11.2 Consortium. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Molecular Psychiatry, 2016 May 31. doi: 10.1038/mp.2016.84.

Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients. Eur J Med Genet. 2015 Jan 14. pii: S1769-7212(15)00006-3. doi: 10.1016/j.ejmg.2015.01.002.

Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P. SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia Oncogene 2014, 1–8.

Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA. Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Ann Neurol. 2014 Sep 15. doi: 10.1002/ana.24274.

Gaillard S, Dupuis-Girod S, Boutitie F, Faure F, Merrot O, Morinière S, Magro P, Boute O, Hatron PY, Buscarini E, Manfredi G, Jankowski R, Kaminsky P, Pruna L, Capitaine AL, Gilbert-Dussardier B, Klossek JM,. Delaval P, Corre R, Babin E, Perret J, Carette MF, Rivière S, Franco-Vidal V, Duffau P, Harlé JR, Roy P, Gueyffier F, Plauchu H. Tranexamic acid for epistaxis in hereditary haemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease. Journal of Thrombosis and Haemostasis, 2014 12: 1–9.

Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium (Amiel J, Addor MC, Andrini E, Attie-Bitach T, Barth M, Blesson S, Burglen L, Cabasson S, Cances C, Chapon F, Curie A, Datta A, Desguerre I, Dias P, Doray B, Gelot A, Genevieve D, Gilbert-Dussardier B, Guimiot F, Héron B, Héron D, Jacquemont ML, Jossic F, Jouk PS, Laquerrie A, Lebon S, Lepage JM, Lhermitte B, Loget P, Loeuillet L, Marcorelles P, Milh M, Moutard ML, Parent P, Passemard S, Pinson L, Quelin C, des Portes V, Razavi F, Revencu N, Rio M, Rivier F, Rouleau C, Roume J, Tardieu M) Beldjord C, Chelly J. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?. Brain. 2014 137(Pt 6):1676-700.

Del Giudice E, Macca M, Imperati F, D’Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group (Bankier A, White S, Collins F, Gardner M, Keeling SL, Tan T, McGaughran J, McKenzie F, Lhotta K, Abdulla F, Destree A, Devriendt K, Matthijs G, Ferrier R, McLeod DR, Friedman JM, Heran H, Graham GE, Klatt R, Teebi A, Jensen P, Gilbert B, Marlin S, Trousseau A, Toutain A, David A, Odent S, Héron D, Burglen L, Rio M, Jouk PS, Plessis G, Lespinasse J, Giuliano F, Turc-Carel C, Betz RC, Heim S, Klehr-Martinelli M, Kotzot D, Minnerop M, Schell-Apacik C, Gal A, Orth U, Gillessen-Kaesbach G, Zoll B, Mucke J, Tzschach A, Godde E, Carmi R, Brunetti N, Scarcella A, Castelluccio P, Castellan C, Gerola O, Bigoni S, Zelante L, Foggia S, Sabato A, Bianchini G, Nuova AS, Virdis R, Ferrero GB, Selicorni A, Gurrieri F, Cuore S, Megarbane A, Chiong MA, Cutiongco EM, Obersztyn E, Kutkowska-Kazmierczak A, Mota CR, de Magalhaes D, Stevanovic G, Del Pozo JS, Barcina MG, Iwarsson E, Graber V, Okhowat R, Shinzel A, Brunner HG, Krapels I, Hovers V, Beemer FA, Terhal P, Rump P, Elcioglu N, Toprak O, Burn J, Henderson A, Jones E, Dean J, Castle B, Macdonald F, Farndon P, Williams D, Homfray T, Lees M, Loughlin S, Raymond FL, Trump D, Whittaker J, Smithson S, Rankin J, Turner C, Bird L, Chibuk J, Masser-Frye D, Sell S, Amy S, Schafer I, Bartoshesky LE, Jenny K, Benke P, Curry C, Swenerton A, Treisman T, Dunlap JW, Shashi V, Reich E, Reimschisel T, Pfau R, Pober B, Robertson J, Roggenbuck J, Thiese H.)CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74.

Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Ponsot G, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kaufman D, Briot D, de Fréminville B, Prieur F, Till M, Rooryck-Tambo C, Mortemousque I, Bobillier-Chaumont I, Lambert JC, Toutain A, Touraine R, Sanlaville D, Chelly J, Moraine C, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, Des Portes V. The c.428-451 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia. Orphanet J Rare Dis. 2014, 9:25 doi:10.1186/1750-1172-9-25.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan Ö, Cintas P, Gerard M, Gilbert-Dussardier B, Longman C, Eymard B, Frydman M, Kang PB, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North K, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto A, de Visser M, Waddell LB., Wilichowski E, Winer JB, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. . Human Mutat 2014 35:779-90.

Morice-Picard F, Lasseaux E, Cailley D, Gros A, Toutain J, Plaisant C, Simon D, François S, Gilbert-Dussardier B, Kaplan J, Rooryck C, Lacombe D, Arveiler B. High resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2 and SLC45A2 genes, and a complex rearrangement of the OCA2 gene. Pigment Cell Melanoma Res. 2014 27(1):59-71.

Harbuz R, Bilan F, Couet D, Charraud V, Kitzis A, Gilbert-Dussardier B. Osteogenesis Imperfecta, Tricho-Dento-Osseous Syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion. Am J Med Genet 2013 161A(10):2504-11.

Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Clin Genet 2014 Oct;86(4):326-34

Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S, Delrue MA, Till M, Jacquemont ML, Cordier MP, Goldenberg A, Sanchez E, Alix E, Poisson S, Kayirangwa H, Lacombe D, Gilbert-Dussardier B, Pelet A, Roume J, Jacquette A, Isidor B, Giuliano F, Burglen L, Fradin M, Schaefer E, Alembick Y, Doray B, Moncla A, Héron D, Willems M, Pinson L, Le Quan Sang KH, Le Merrer M, Cormier-Daire V, Sarda P, Amiel J, Lyonnet S, Geneviève D. Finger creases lend a hand in Kabuki syndrome. Eur J Med Genet. 2013 ;56(10):556-60.

Petit F, Jourdain AS, Andrieux J, Baujat G, Baumann C, Bénéteau C, David A, Faivre-Olivier L, Gaillard D, Gilbert-Dussardier B, Jouk PS, Le Caignec C, Loget P, Pasquier L, Porchet N, Holder-Espinasse M, Manouvrier-Hanu S, Escande F. Split hand/foot malformation with long bone deficiency and BHLHA9 duplication: report of 13 new families. Clin Genet. 2014 May;85(5):464-9.

Rendu J, Brocard J, Denarier E, Monnier N, Piétri-Rouxel F, Beley C, Roux-Buisson N, Gilbert-Dussardier B, Perez MJ, Romero N, Garcia L, Lunardi J, Fauré J, Fourest-Lieuvin A, Marty I. Exon skipping as a therapeutic strategy applied to a RyR1 mutation causing severe core myopathy. . Human Gene Therapy 2013 Jul;24(7):702-13

Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han LQ, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D.Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome. J Pediatr 2013 Sep;163(3):742-6.

Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue M, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk P, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor M, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron A, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L.Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. Clin Genet. 2013 Dec;84(6):507-21.

Cottereau E, Mortemousque I, Moizard MP, Burglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana-Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, van Maldergem L, Baujat G, Maystadt I, Heron D, Verloes A, Cormier-Daire V, Philip N, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, van den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.  . Am J Med Genet C Semin Med Genet. 2013 163(2):92-105.

Bruno DL, Béna F, Eriksson M , van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Hanemaaijer N, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A,   Till M, Bilan F, Pasquier L, Kitzis A, Dubourg C, Rossi M, Bottani A, Gagnebin M, Rauch A, Sanlaville D, Gilbert-Dussardier B, Guipponi M, Kriek M, Ruivenkamp C, Antonarakis, SE, Anderlid BM, Slater HR, Schoumans JMolecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature; . Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403

Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk E, David A, Edery P, Bottani A, LayetV, Caron O, Gilbert B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, French Cowden Disease Network*, Longy M & Caux F. High cumulative risks of cancer in patients with PTEN hamartoma tumor syndrome. J Med Genet 2013,;50(4):255-63.

Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T.Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. J Med Genet. 2012 Nov;49(11):698-707

Dupuis-Girod S, Ginon I,Saurin JC, Marion D, Guillot E, Decullier E, Roux A, Carette M, Gilbert-Dussardier B, Hatron PY, Lacombe P, Lorcerie B, Rivière S, Corre R, Giraud S, Bailly S, Paintaud G, Ternant D, Valette PJ, Plauchu H, Faure F. Bevacizumab in Patients With Hereditary Hemorrhagic Telangiectasia and Severe Hepatic Vascular Malformations and High Cardiac Output. JAMA. 2012;307(9):948-95.

Bilan F, Legendre M, Charraud V, Manière B, Couet D, Gilbert-Dussardier B, Kitzis A. Complete Screening of 50 Patients with CHARGE Syndrome for Anomalies in the CHD7 Gene Using a Denaturing High-Performance Liquid Chromatography-Based Protocol New Guidelines and a Proposal for Routine Diagnosis. J Mol Diagn. 2012 Jan;14(1):46-55.

Mathis S, Dupuis-Girod S, Plauchu H, Giroud M, Barroso B, Ly KH, Ingrand P, Gilbert B, Godenèche G, Neau JP. Cerebral abscesses in hereditary haemorrhagic telangiectasia: A clinical and microbiological evaluation. Clin Neurol Neurosurg. 2012 Apr;114(3):235-40.

Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d’Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; The French Familial Melanoma Study Group, Aubin F, Bachollet B, Becuwe C, Berthet P, Jean Bignon Y, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d’Incan, Dugast C, Faivre L, Vincent-Fétita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Matéus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B..A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature. 2011 Oct 19;480(7375):94-8.

Roux AF, Faugère V, Vaché C, Baux D, Besnard T, Léonard S, Blanchet C, Hamel C, Mondain M, Gilbert-Dussardier B, Edery P, Lacombe D, Bonneau D, Holder M, Castorina P, Journel H, David A, Lina G, Malcolm S, Claustres M. Four year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci. 2011 Jun 8;52(7):4063-71.

Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N. Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies. Neuromuscul Disord. 2011 Nov;21(11):782-90

Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefèvre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril MF, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Olivier-Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, McGilliwray B, Maugard C, Méjean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan MH, Théodore C, Thomas L, Vabres P, Van Glabeke E, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, The BT, Bressac-de Paillerets B, Richard S on behalf of the French National Cancer Institute “Inherited predisposition to kidney cancer” network. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet. 2011 48:226-234.

Boyer O, Benoit G, Gribouval O, Nevo F, Tête MJ, Dantal J, Gilbert-Dussardier B, Touchard G, Karras A, Presne C, Grunfeld JP, Legendre C, Joly D, Rieu P, Mohsin N, Hannedouche T, Moal V, Gubler MC, Broutin I, Mollet G and Antignac C. Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis. . J Am Soc Nephrol 2011 22: 239–245.

Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, Leguern E. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat. 2011 32: E1959-75.

Mahlaoui N, Minard-Colin V, Picard C, Bolze A, Ku CH, Tournilhac O, Gilbert B, Pautard B, Durand P, Devictor D, Lachassinne E, Guillois B, Morin M, Gouraud F, Valensi F, Fischer A, Puel A, Abel L, Bonnet D and Casanova JL. Isolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 cases. J Pediatr. 2011 158:106-112.

Communications orales récentes

Michot C, Huber C, . Le Quan Sang K, Bole C, Nitschke P, Abdalla E, Alessandri J, Baumann C, Bedeschi M, Bieth E, Brancati F,Chandler K, Cordier M, Devriendt K, Dieux A, Do Ngoc Thanh C, El Chehadeh S, Faivre L, Francannet C, Gaillard D, Geneviève D, Gérard M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Isidor B, Irving M, Jouk P, Martinovic J, Mathieu M, Mégarbané A, Mortier G, Odent S, Piard J, Port-Lis M, Rossi M, Sigaudy S, Simon M, Simsek-Kiper P, Sznajer Y, Tomkins S, Tasic V, Toutain A, Turnpenny P, Vogel I, Whalen S, Wright M, Yeung A, Baujat G, . Cormier-Daire V.  Genotype-phenotype correlation in Jeune thoracic dysplasia/short rib-polydactyly type III: review of 130 cases. European Society of Human Genetics, Copenhagen , Danemark, 27-30 mai 2017

Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Sanders SJ, Lehmann A, Latypova X, Pacault M, Khan K, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont M, Cho MT, Monaghan KG, Roeder E, Denommé-Pichon A, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Uguen K, Gilbert-Dussardier B, Odent S, Toutain T, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL,  Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, . Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel P, Golzio C, Bézieau S, Stankiewicz P, Isidor B. A syndromic neurodevelopmental disorder is caused by de novo disruption of the proteasome regulatory subunit PSMD12. European Society of Human Genetics, Copenhagen , Danemark, 27-30 mai 2017

Posters récents

Brajadenta GS, Bilan F, Gilbert-Dussardier B, Kitzis A, Thoreau V. Mise au Point d’un Test Fonctionnel de la protéine CHD7 Impliquée dans le Syndrome CHARGE. Journée scientifique de la SFR FED 4226, Poitiers, 23 juin 2017.

Ferru-Clément R, Rodriguez M, Chatelier A, Bois P, Rioux Bilan A, Thoreau V, Milin S, Snyders D, Page G, Gilbert-Dussardier B, Bilan F. KCNG4 in the mammalian brain development. Journée scientifique de la SFR FED 4226, Poitiers, 23 juin 2017.

Lunati  A, Lerat J, Dzugan H, Rego M, Magdelaine C, Bieth E, Calvas P, Cintas P, Gilbert-Dussardier B, Goizet C, Journel H, Magy L, Toutain A, Urtizberea J, Sturtz F, Lia A. Four new pathogenic mutations identified in SH3TC2 gene responsible for Charcot-Marie-Tooth disease associated with deafness and/or scoliosis. European Society of Human Genetics, Copenhagen , Danemark, 27-30 mai 2017

Rossi M, Rollat-Farnier P, Demily C, Gilbert-Dussardier B, Touraine R, Giuliano F, Masson  J, Labalme A, Chatron N,  Lesca G, Marco De La Cruz B, Tordjman S, Verloes A, Testa G, Edery P, Sanlaville D. Characterization, by array-CGH and whole-exome sequencing, of 6 patients with Williams-Beuren syndrome and Autism Spectrum Disorder. European Society of Human Genetics, Copenhagen , Danemark, 27-30 mai 2017

Schluth-Bolard C, Diguet F, Rollat-Farnier PA, Amiel J, Belaud-Rotureau MA, Benzacken B, Callier P, Chatron N, Collignon P, Demeer B, Doco-Fenzy M, Faivre L, Gilbert-Dussardier B, Guerrot AM, Jaillard S, Keren B, Kremer V, Lacombe D, Lebbar A, Le Caignec C, Lespinasse J, Malan V, Mathieu-Dramard M, Missirian C, Moncla A, Odent S, Pebrel-Richard C, Paquis V, Portnoï MF, Puechberty J, Rooryck-Thambo  C, Satre V, Tabet AC, Touraine R, Toutain A, Vekemans M, Verloes A, Edery P, Sanlaville D. Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations. European Society of Human Genetics, Copenhagen , Danemark, 27-30 mai 2017

Renault A, Mebirouk N, Cavaciuti E, Le Gal D, Lecarpentier J, Dubois d’Enghien C, Laugé A, Dondon M, Labbé M, Lesca G, Leroux D, Gladieff L, Adenis C, Faivre L, Gilbert-Dussardier B, Lortholary A, Fricker J, Dahan K, Bay J, Longy M, Buecher B, Janin N, Zattara H, Berthe P, Combès A, Coupier I, CoF-AT study collaborators, Hall J, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families. European Society of Human Genetics. Copenhagen , Danemark, 27-30 mai 2017

Richard N, DorbeauM, CoudrayN,  BallandonneC,  Gilbert-Dussardier B and Marie-Laure Kottler. Somatic mosaicism of GNAS mutation in Pseudohypoparathyroidism 1A: a new challenge for genetic counselling. 99th meeting of Endocrine Society (ENDO), Orlando, Floride, USA ; 1-4 Avril 2017.

Bezieau S, Denomme AS,  Besnard T,  Latypova X,  Cogne B,  Seche E, Bonneau D, Parent P,  Gilbert-Dussardier B,  Odent S, Toutain A, Redon R,  Schmitt S,  Boisseau P, HUGODIMS Consortium 10,  Vincent M,  Mercier S, Isidor B,  Küry S. The French HUGODIMS Consortium Experience on Intellectual Disabilities. European Society oh Human Genetics, Barcelone, 21-24 mai 2016

 

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