IPG - Institut de Pathologie et de Génétique: la recherche scientifique en détail

Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G, European FOS Investigators Group
Kidney transplantation in patients with Fabry disease.
Transplant international : official journal of the European Society for Organ Transplantation. 2009 Apr;22(4):475-81.
IF2008: 3.115

Put N, Konings P, Dr Sc. K. Rack, Jamar M, Van Roy N, Libouton JM, Dr Sc. P. Vannuffel, M D. Sartenaer, Ameye G , Speleman F , Herens C , Poirel HA , Moreau Y , Hagemeijer A , Vandenberghe P , Michaux L , Belgian Cytogenetic Group for Hemato-Oncology (BCGHO)
Improved detection of chromosomal abnormalities in chronic lymphocytic leukemia by conventional cytogenetics using CpG oligonucleotide and interleukin-2 stimulation: A Belgian multicentric study.
Genes, chromosomes & cancer. 2009 Oct;48(10):843-53.
IF2008: 3.925

Sadones J, Michotte A, Veld P, Chaskis C, Sciot R, Menten J, Joossens EJ , Strauven T , D'Hondt LA , M D. Sartenaer, Califice SF , Bierau K , Svensson C , De Grève J , Neyns B .
MGMT promoter hypermethylation correlates with a survival benefit from temozolomide in patients with recurrent anaplastic astrocytoma but not glioblastoma.
European journal of cancer (Oxford, England : 1990). 2009 Jan;45(1):146-53.Genes, chromosomes & cancer. 2009 Oct;48(10):843-53.
IF2008: 4.775

Dr Sc. B. Grisart, Willatt L, Dr A. Destrée, Fryns JP, Dr Sc. K. Rack, de Ravel T, Rosenfeld J , Vermeesch JR , Pr Ch. Verellen-Dumoulin , Sandford R .
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.
Journal of medical genetics. 2009 Aug;46(8):524-30.
IF2008: 5.713

Van der Aa N , Rooms L , Vandeweyer G , van den Ende J , Reyniers E , Fichera M , Romano C , Delle Chiaie B , Mortier G , Menten B, Dr A. Destrée, Dr I. Maystadt, Männik K , Kurg A , Reimand T , McMullan D , Oley C , Brueton L , Bongers EM , van Bon BW , Pfund R , Jacquemont S , Ferrarini A , Martinet D , Schrander-Stumpel C , Stegmann AP , Frints SG , de Vries BB , Ceulemans B , Kooy RF .
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
European journal of medical genetics. 2009;52(2-3):94-100.
IF s/5 ans: 1.896 - IF2008: 1.782

Friguls B , Coroleu W , Del Alcazar R , Dr Sc. P. Hilbert, Van Maldergem L , Pintos-Morell G .
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation
European journal of medical genetics. 2009;52(1):14-6.
IF s/5 ans: 1.896 - IF2008: 1.782

Put N , Meeus P , Chatelain B, Dr Sc. K. Rack, Boeckx N , Nollet F , Graux C , Van Den Neste E , Janssens A , Madoe V , Van Hoof A , Bilhou-Nabera C , Wlodarska I , Vandenberghe P , Michaux L .
Translocation t(14;18) is not associated with inferior outcome in chronic lymphocytic leukemia.
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2009 Jun;23(6):1201-4.
IF2008: 8.634

de Lima RL , Hoper SA , Ghassibe M , Cooper ME , Rorick NK , Kondo S , Katz L , Marazita ML , Compton J , Bale S , Hehr U , Dixon MJ , Daack-Hirsch S , Boute O , Bayet B , Revencu N , Pr Ch. Verellen-Dumoulin , Vikkula M , Richieri-Costa A , Moretti-Ferreira D , Murray JC , Schutte BC .
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics. 2009 Apr;11(4):241-7.
IF2008: 3.713

Morelle J, Tintillier M, Martinot JB, Moortgat S, and Hermans C .
Unexpected pulseless disease associated with recurrent venous thromboembolisms.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis. 2009 Apr;15(2):239-40.
IF2008: 1.409

Desuter G, Gardiner Q, Dahan K.
Laryngeal signs of Ehlers Danlos syndrome in an adult: The first case reported.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. 2009 Sep;141(3):428-9.
IF2008: 1.409

Brasseur B, Dahan K, Beauloye V, Blétard N, Chantrain C, Dupont S, et al.
Multiple neoplasia in a 15-year-old girl with familial adenomatous polyposis.
Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology. 2009 Jul;31(7):530-2.
IF2008: 1.176

Lannoy N, Abinet I, Dahan K, Hermans C.
Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency.
Haemophilia : the official journal of the World Federation of Hemophilia. 2009 May;15(3):797-801.
IF2008: 2.394

Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, et al.
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Human mutation. 2009 Feb;30(2):E404-20.
IF2008: 7.033

Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT, and Fabry Outcome Survey investigators.
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.
Lancet. 2009 Dec;374(9706):1986-96.
IF2008: 28.409

Aziz NA, Jurgens CK, Landwehrmeyer GB, EHDN Registry Study Group, van Roon-Mom WM, van Ommen GJ, et al.
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease.
Neurology. 2009 Oct;73(16):1280-5.
IF2008: 6.01

Dargent JL, Vannuffel P, Saint-Remy JM, Fisogni S, Facchetti F.
Plasmacytoid dendritic cells in kimura disease.
The American Journal of dermatopathology. 2009 Dec;31(8):854-6.
IF2008: 1.477

de Viron E, Knoops L, Connerotte T, Smal C, Michaux L, Saussoy P, Vannuffel P, et al.
Impaired up-regulation of polo-like kinase 2 in B-cell chronic lymphocytic leukaemia lymphocytes resistant to fludarabine and 2-chlorodeoxyadenosine: a potential marker of defective damage response.
British journal of haematology. 2009 Dec;147(5):641-52.
IF2008: 4.478