Ausgewählte Publikationen 2009
Sass JO, Romrell JS, Vinson SY, Fernandez HH, Fischer J, Rodriguez RL, Michael Okun M. Tracing the Origin of L-2-Hydroxyglutaric Aciduria in a Family. International Journal of Neuroscience, 2009, 119:2112-2123.
Castiglia D, Castori M, Pisaneschi E, Sommi M, Covaciu C, Zambruno G, Fischer J, Magnani C. Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis. Clin Genet. 2009, 76 : 392-397 [Epub ahead of print]
Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Törmä H, Vahlquist A, Bouadjar B, Dahl N, Fischer J. Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome. Am J Hum Genet. 2009, 85:248-253
Oudot T, Lesueur F, Guedj M, de Cid R, McGinn S, Heath S, Foglio M, Prum B, Lathrop M, Prud’homme JF, Fischer J. An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disorders. J Invest Dermatol. 2009, 129:2637-2645
Fischer J. Autosomal recessive congenital ichthyosis ARCI. J Invest Dermatol. 2009, 129:1319-1321 [IF 5,543]
Kharfi M, El Fekih N, Ammar D, Jaafoura H, Schwonbeck S, van Steensel MAM, Fazaal , Kamoun MR, Fischer J. Acral peeling skin syndrome: a novel missense mutation in tgm5. J Invest Dermatol. 2009, 129:2512–2515
Mégarbané H, Florence J, Sass JO, Schwonbeck S, Foglio M, de Cid R, Cure S, Saker S, Mégarbané S, Fischer J. A novel autosomal recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. J Invest Dermatol. 2009 29:1650-1655
Nair RP, Duffin KC, Helms C, Ding J, Stuart PE, Goldgar D, Gudjonsson JE, Li Y, Tejasvi T, Feng BJ, Ruether A, Schreiber S, Weichenthal M, Gladman D, Rahman P, Schrodi SJ, Prahalad S, Guthery SL, Fischer J, Liao W, Kwok PY, Menter A, Lathrop GM, Wise CA, Begovich AB, Voorhees JJ, Elder JT, Krueger GG, Bowcock AM, Abecasis GR; Collaborative Association Study of Psoriasis. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet. 2009, 41: 199-204
Halioglu G, Temucin CM, Oguz KK, Celiker A Coskun T, Sass JO, Fischer J, Topcu M. Peripheral Neuropathy in a patient with D-2-Hydroxyglutaric aciduria. J Inherit Metab Dis. 2009 Jan 26.