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Judith Fischer
Judith Fischer
Dirección de correo verificada de uniklinik-freiburg.de
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Genome-wide scan reveals association of psoriasis with IL-23 and NF-κB pathways
RP Nair, KC Duffin, C Helms, J Ding, PE Stuart, D Goldgar, ...
Nature genetics 41 (2), 199-204, 2009
16032009
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
LC Tsoi, SL Spain, J Knight, E Ellinghaus, PE Stuart, F Capon, J Ding, ...
Nature genetics 44 (12), 1341-1348, 2012
10512012
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009
V Oji, G Tadini, M Akiyama, CB Bardon, C Bodemer, E Bourrat, ...
Journal of the American Academy of Dermatology 63 (4), 607-641, 2010
8652010
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
C Lefèvre, F Jobard, F Caux, B Bouadjar, A Karaduman, R Heilig, ...
The American Journal of Human Genetics 69 (5), 1002-1012, 2001
5532001
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
J Fischer, C Lefèvre, E Morava, JM Mussini, P Laforêt, A Negre-Salvayre, ...
Nature genetics 39 (1), 28-30, 2007
5292007
DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project
VK Rakyan, T Hildmann, KL Novik, J Lewin, J Tost, AV Cox, TD Andrews, ...
PLoS biology 2 (12), e405, 2004
4642004
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
C Lefèvre, S Audebert, F Jobard, B Bouadjar, H Lakhdar, ...
Human molecular genetics 12 (18), 2369-2378, 2003
3362003
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome …
F Jobard, C Lefèvre, A Karaduman, C Blanchet-Bardon, S Emre, ...
Human molecular genetics 11 (1), 107-113, 2002
3252002
Autosomal recessive congenital ichthyosis
J Fischer
Journal of investigative dermatology 129 (6), 1319-1321, 2009
3042009
Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda
F Chimienti, RC Hogg, L Plantard, C Lehmann, N Brakch, J Fischer, ...
Human molecular genetics 12 (22), 3017-3024, 2003
2932003
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome
F Jobard, B Bouadjar, F Caux, S Hadj-Rabia, C Has, F Matsuda, ...
Human molecular genetics 12 (8), 925-935, 2003
2872003
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
A Grall, E Guaguère, S Planchais, S Grond, E Bourrat, I Hausser, C Hitte, ...
Nature genetics 44 (2), 140-147, 2012
2782012
Mutations in the gene encoding SLURP-1 in Mal de Meleda
J Fischer, B Bouadjar, R Heilig, M Huber, C Lefèvre, F Jobard, F Macari, ...
Human molecular genetics 10 (8), 875-880, 2001
2372001
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
C Lefèvre, B Bouadjar, V Ferrand, G Tadini, A Mégarbané, M Lathrop, ...
Human Molecular Genetics 15 (5), 767-776, 2006
2202006
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
C Lefèvre, B Bouadjar, A Karaduman, F Jobard, S Saker, M Özguc, ...
Human Molecular Genetics 13 (20), 2473-2482, 2004
2112004
The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding
M Schweiger, G Schoiswohl, A Lass, FPW Radner, G Haemmerle, R Malli, ...
Journal of biological chemistry 283 (25), 17211-17220, 2008
1942008
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome
J Klar, M Schweiger, R Zimmerman, R Zechner, H Li, H Törmä, ...
The American Journal of Human Genetics 85 (2), 248-253, 2009
1782009
Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment
A Vahlquist, J Fischer, H Törmä
American Journal of Clinical Dermatology 19, 51-66, 2018
1712018
Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
FPW Radner, S Marrakchi, P Kirchmeier, GJ Kim, F Ribierre, B Kamoun, ...
PLoS genetics 9 (6), e1003536, 2013
1652013
Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history
C Has, D Castiglia, M del Rio, M Garcia Diez, E Piccinni, D Kiritsi, ...
Human mutation 32 (11), 1204-1212, 2011
1432011
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