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

Ronce N , Maystadt I , Hubert C , Vonwill S , Devriendt K , Moizard MP , Raynaud M .
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene
Clin Genet. 2011 Dec 30. doi: 10.1111/j.1399-0004.2011.01782.x

Gill JL , Tsai KL , Krey C , Noorai RE , Vanbellinghen JF , Garosi LS , Shelton GD , Clark LA , Harvey RJ .
A canine BCAN microdeletion associated with episodic falling syndrome.
Neurobiol Dis. 2012 Jan;45(1):130-6. Epub 2011 Jul 28

Raynaud P , Tate J , Callens C , Cordi S , Vandersmissen P , Carpentier R , Sempoux C , Devuyst O , Pierreux CE , Courtoy P , Dahan K , Delbecque K , Lepreux S , Pontoglio M , Guay-Woodford LM , Lemaigre FP .
A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis.
Hepatology. 2011 Jun;53(6):1959-66. doi: 10.1002/hep.24292. Epub 2011 May 2.

Dargent JL .
Acquired lymphangiectasias in genital lichen sclerosus.
Am J Dermatopathol. 2011 Apr;33(2):200-2.

Bataille S , Demoulin N , Devuyst O , Audrézet MP , Dahan K , Godin M , Fontès M , Pirson Y , Burtey S .
Association of PKD2 (polycystin 2) mutations with left-right laterality defects.
Am J Kidney Dis. 2011 Sep;58(3):456-60. Epub 2011 Jun 29.

Caucanas M , Heureux F , Müller G , Vanhooteghem O .
Atypical hypodermic necrosis secondary to insulin injection: a case report and review of the literature.
J Diabetes. 2011 Mar;3(1):19-20. doi: 10.1111/j.1753-0407.2010.00103.x.

Put N , Van Roosbroeck K , Konings P , Meeus P , Brusselmans C , Rack K , Gervais C , Nguyen-Khac F , Chapiro E , Radford-Weiss I , Struski S , Dastugue N , Gachard N , Lefebvre C , Barin C , Eclache V , Fert-Ferrer S , Laibe S , Mozziconacci MJ , Quilichini B , Poirel HA , Wlodarska I , Hagemeijer A , Moreau Y , Vandenberghe P , Michaux L ; on behalf of the BCGHo and the GFCH .
Chronic lymphocytic leukemia and prolymphocytic leukemia with MYC translocations: a subgroup with an aggressive disease course.
Ann Hematol. 2011 Dec 30.

Catteau X , Dehou MF , Dargent JL , Hackx M , Noël JC .
Chronic lymphocytic leukemia mimicking recurrent carcinoma of the breast: case report and review of the literature.
Pathol Res Pract. 2011 Aug 15;207(8):514-7.

Dargent JL , Delannoy A , Pieron P , Husson B , Debecker C , Petrella T .
Cutaneous accumulation of plasmacytoid dendritic cells associated with acute myeloid leukemia: a rare condition distinct from blastic plasmacytoid dendritic cell neoplasm.
J Cutan Pathol. 2011 Nov;38(11):893-8. doi: 10.1111/j.1600-0560.2011.01777.x. Epub 2011 Aug 23.

Moortgat S , Verellen-Dumoulin C , Maystadt I , Parmentier B , Grisart B , Hennecker JL , Destree A .
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
Eur J Med Genet. 2011 Mar-Apr;54(2):177-80. Epub 2010 Dec 15.
IF: 1.6

Nyiraneza C , Jouret-Mourin A , Kartheuser A , Camby P , Plomteux O , Detry R , Dahan K , Sempoux C .
Distinctive patterns of p53 protein expression and microsatellite instability in human colorectal cancer.
Hum Pathol. 2011 Jun 10. [Epub ahead of print]

Gregor A , Albrecht B , Bader I , Bijlsma EK , Ekici AB , Engels H , Hackmann K , Horn D , Hoyer J , Klapecki J , Kohlhase J , Maystadt I , Nagl S , Prott E , Tinschert S , Ullmann R , Wohlleber E , Woods G , Reis A , Rauch A , Zweier C .
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
BMC Med Genet. 2011 Aug 9;12:106.

Piret SE , Danoy P , Dahan K , Reed AA , Pryce K , Wong W , Torres RJ , Puig JG , Müller T , Kotanko P , Lhotta K , Devuyst O , Brown MA , Thakker RV .
Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.
Hum Genet. 2011 Jan;129(1):51-8. Epub 2010 Oct 26.

Bosschaerts T , Morias Y , Stijlemans B , Hérin M , Porta C , Sica A , Mantovani A , De Baetselier P , Beschin A .
IL-10 limits production of pathogenic TNF by M1 myeloid cells through induction of nuclear NF-?B p50 member in Trypanosoma congolense infection-resistant C57BL/6 mice.
Eur J Immunol. 2011 Nov;41(11):3270-80. doi: 10.1002/eji.201041307. Epub 2011 Sep 19.

Mafficini A , Ortombina M , Sermet-Gaudelius I , Lebecque P , Leal T , Iansa P , Reychler G , Dahan K , Pepermans X , Lenoir G , Leonard A , Sorio C , Assael B , Melotti P .
Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis.
J Cyst Fibros. 2011 Jul;10(4):228-33. Epub 2011 Mar 24.

Alkhateeb SS , Neill M , Bar-Moshe S , Rhijn BV , Kakiashvili DM , Fleshner N , Jewett M , Petein M , Schulman C , Hanna S , Bostrom PJ , Roumeguere T , Shariat SF , Rorive S , Zlotta AR .
Long-term prognostic value of the combination of EORTC risk group calculator and molecular markers in non-muscle-invasive bladder cancer patients treated with intravesical Bacille Calmette-Guérin.
Urol Ann. 2011 Sep;3(3):119-26.

Kelley BP , Malfait F , Bonafe L , Baldridge D , Homan E , Symoens S , Willaert A , Elcioglu N , Van Maldergem L , Verellen-Dumoulin C , Gillerot Y , Napierala D , Krakow D , Beighton P , Superti-Furga A , De Paepe A , Lee B .
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250.

Saft C , Epplen JT , Wieczorek S , Landwehrmeyer GB , Roos RA , de Yebenes JG , Dose M , Tabrizi SJ , Craufurd D ; REGISTRY Investigators of the European Huntington's Disease Network , Arning L .
NMDA receptor gene variations as modifiers in Huntington disease: a replication study.
PLoS Curr. 2011 Oct 4;3:RRN1247.

Halleux D , Dahan K , Thauvin-Robinet C , Aral B , Pouteil-Noble C , Devuyst O , Pirson Y .
Outcome of kidney transplantation in type I oral-facial-digital syndrome.
Transpl Int. 2011 Jun;24(6):e48-50. doi: 10.1111/j.1432-2277.2010.01208.x. Epub 2011 Jan 6.

Dargent JL , Mathieux V , Vidrequin S , Deghorain X , Vannuffel P , Rack K .
Pathology of the bone marrow and spleen in a case of myelodysplastic/myeloproliferative neoplasm associated with t(8;9)(p22;p24) involving PCM1 and JAK2 genes.
Eur J Haematol. 2011 Jan;86(1):87-90. doi: 10.1111/j.1600-0609.2010.01525.x. Epub 2010 Nov 11.

Bollée G , Dahan K , Flamant M , Morinière V , Pawtowski A , Heidet L , Lacombe D , Devuyst O , Pirson Y , Antignac C , Knebelmann B .
Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations.
Clin J Am Soc Nephrol. 2011 Oct;6(10):2429-38. Epub 2011 Aug 25.

Duhoux FP , Ameye G , Lambot V , Herens C , Lambert F , Raynaud S , Wlodarska I , Michaux L , Roche-Lestienne C , Labis E , Taviaux S , Chapiro E , Khac FN , Struski S , Dobbelstein S , Dastugue N , Lippert E , Speleman F , Van Roy N , De Weer A , Rack K , Talmant P , Richebourg S , Mugneret F , Tigaud I , Mozziconacci MJ , Laibe S , Nadal N , Terré C , Libouton JM , Decottignies A , Vikkula M , Poirel HA ; Groupe Francophone de Cytogénétique Hématologique (GFCH) ; Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO) .
Refinement of 1p36 alterations not involving PRDM16 in myeloid and lymphoid malignancies.
PLoS One. 2011;6(10):e26311. Epub 2011 Oct 21.

Placide N , Robert S .
Solitary Fibrous Tumor of the Vagina: A Case Report With Review of the Literature.
Int J Surg Pathol. 2011 Jul 7. [Epub ahead of print]

Vargas-Poussou R , Dahan K , Kahila D , Venisse A , Riveira-Munoz E , Debaix H , Grisart B , Bridoux F , Unwin R , Moulin B , Haymann JP , Vantyghem MC , Rigothier C , Dussol B , Godin M , Nivet H , Dubourg L , Tack I , Gimenez-Roqueplo AP , Houillier P , Blanchard A , Devuyst O , Jeunemaitre X .
Spectrum of mutations in Gitelman syndrome.
J Am Soc Nephrol. 2011 Apr;22(4):693-703. Epub 2011 Mar 17.

Gill JL , Capper D , Vanbellinghen JF , Chung SK , Higgins RJ , Rees MI , Shelton GD , Harvey RJ .
Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.
Neurobiol Dis. 2011 Jul;43(1):184-9. Epub 2011 Mar 17.

Crespin M , Moreau N , Masereel B , Feron O , Gallez B , Vander Borght T , Michiels C , Lucas S .
Surface properties and cell adhesion onto allylamine-plasma and amine-plasma coated glass coverslips.
J Mater Sci Mater Med. 2011 Mar;22(3):671-82. Epub 2011 Feb 3.

Claes K , Dahan K , Tejpar S , De Paepe A , Bonduelle M , Abramowicz M , Verellen C , Franchimont D , Van Cutsem E , Kartheuser A .
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).
Acta Gastroenterol Belg. 2011 Sep;74(3):421-6

Karim L , Takeda H , Lin L , Druet T , Arias JA , Baurain D , Cambisano N , Davis SR , Farnir F , Grisart B , Harris BL , Keehan MD , Littlejohn MD , Spelman RJ , Georges M , Coppieters W .
Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.
Nat Genet. 2011 May;43(5):405-13. Epub 2011 Apr 24.