 IPG - Institut de Pathologie et de Génétique
Publications de 2008.
Voici quelques publications réalisées par les membres de l'IPG.
Publications :
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Koolen DA , Sharp AJ , Hurst JA , Firth HV , Knight SJ , Goldenberg A , Saugier-Veber P , Pfundt R , Vissers LE, Dr A. Destrée, Dr Sc. B. Grisart, Rooms L , Van der Aa N , Field M , Hackett A , Bell K , Nowaczyk MJ , Mancini GM , Poddighe PJ , Schwartz CE , Rossi E , De Gregori M , Antonacci-Fulton LL , McLellan MD , Garrett JM , Wiechert MA , Miner TL , Crosby S , Ciccone R , Willatt L , Rauch A , Zenker M , Aradhya S , Manning MA , Strom TM , Wagenstaller J , Krepischi-Santos AC , Vianna-Morgante AM , Rosenberg C , Price SM , Stewart H , Shaw-Smith C , Brunner HG , Wilkie AO , Veltman JA , Zuffardi O , Eichler EE , de Vries BB
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Journal of medical genetics. 2008 Nov;45(11):710-20.
IF2008: 5.713
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Dr Sc. B. Grisart, Dr Sc. K. Rack, Vidrequin S, Dr Sc. P. Hilbert, Deltenre P , Pr Ch. Verellen-Dumoulin, Dr A. Destrée
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?.
European journal of human genetics : EJHG. 2008 Mar;16(3):305-11.
IF2008: 3.925
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Globas C , du Montcel ST , Baliko L , Boesch S , Depondt C , Didonato S , Durr A , Filla A , Klockgether T , Mariotti C , Melegh B , Rakowicz M , Dr P. Ribai, Rola R , Schmitz-Hubsch T , Szymanski S, Timmann D , Van de Warrenburg BP , Bauer P , Schols L
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
Movement disorders : official journal of the Movement Disorder Society. 2008 Nov;23(15):2232-8.
IF2008: 3.898
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Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Dr P. Ribai, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdienicka E, Kang JS, Döhlinger S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, di Donato S, du Montcel ST, Klockgether T
Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms.
Neurology. 2008 Sep;71(13):982-9.
IF s/5 ans: 6.857 - IF2007: 6.014 - IF2008: 7.043
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du Montcel ST, Charles P, Dr P. Ribai, Goizet C, Le Bayon A, Labauge P, Guyant-Maréchal L, Forlani S, Jauffret C, Vandenberghe N, N'guyen K, Le Ber I, Devos D, Vincitorio CM, Manto MU, Tison F, Hannequin D, Ruberg M, Brice A, Durr A
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
Brain : a journal of neurology. 2008 May;131(Pt 5):1352-61.
IF2008: 9.603
- Dr P. Ribai, Depienne C, Fedirko E, Jothy AC, Viveweger C, Hahn-Barma V, Brice A, Durr A
Mental deficiency in three families with SPG4 spastic paraplegia.
European journal of human genetics : EJHG. 2008 Jan;16(1):97-104.
IF2008: 3.925
- Shirwalkar HU, Patel ZM, Magre J, Dr Sc. P. Hilbert, Van Maldergem L, Mukhopadhyay RR, Maitra A
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene.
Journal of inherited metabolic disease. 2008 Aug;.
IF2008: 2.691
- Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Dr Sc. P. Hilbert, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT
Recommendations for locus-specific databases and their curation.
Human mutation. 2008 Jan;29(1):2-5.
IF2008: 7.033
- Ouazzani A, Delrée P, De Saint Aubain N, Ceuterick M, Boudaka W.
Malignant solitary fibrous tumor of the abdominal wall in a man.
Annales de chirurgie plastique et esthetique. 2008 Dec;53(6):517-20.
IF2008: ??
Communications :
Ouvrages et Prix :
Dernière mise à jour : 22 avril 10 |
