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Institut für Humangenetik

Ausgewählte Publikationen 2015

Noguera-Morel L, Hernández-Ostiz S, Casas-Fernández L, Hernández-Martín A, Rodríguez-Blanco I, Requena L, Hotz A, Fischer J, Torrelo A. CHILD syndrome with minimal limb abnormalities. J Eur Acad Dermatol Venereol. 2015 Nov 26. doi: 10.1111/jdv.13526. [Epub ahead of print]

Persa OD, Fischer J, Tantcheva-Poór I Linear scars in a 4-week-old girl. JAMA Dermatol. 2015 Dec 2:1-2. doi: 10.1001/jamadermatol.2015.4191. [Epub ahead of print]

Schlipf N, Traupe H, Gilaberte Y, Peitsch WK, Hausser I, Oji V, Schneider S, Demmer P, Rösler B, Fischer J, Association of Cole disease with novel heterozygous mutations in the somatomedin-B domain of the ENPP1 gene: necessary, but not always sufficient. Br J Dermatol 2015 11/2015; DOI:10.1111/bjd.14328

Hotz A, Oji V, Bourrat E, Jonca N, Mazereeuw-Hautier J, Betz RC, Blume-Peytavi U, Stieler K, Morice-Picard F, Schönbuchner I, Markus S, Schlipf N, Fischer J. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Derm Venereol. 2015

Schlipf NA, Vahlquist A, Teigen N, Virtanen M, Dragomir A, Fismen S, Barenboim M, Manke T, Rösler B, Zimmer A, Fischer J. Whole exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome. Br J Dermatol. Br J Dermatol 2015, [Epub ahead of print]

Yang Z, Hartmann B, Xu Z, Ma L, Happle R, Schlipf N, Zhang LX, Xu ZG, Wang ZY, Fischer J. Large Deletions in the NSDHL Gene in Two Patients with CHILD Syndrome. Acta Derm Venereol. 2015, 5:1007-1008

Hirt N, Eggermann K, Hyrenbach S, Lambeck J, Busche A, Fischer J, Rudnik-Schöneborn S, Gaspar H. Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion. Neurology. 2015, 84:1605-1606

Gürkan H, Fischer J, Ulusal S, Vatansever Ü, Hartmann B, Tozkιr H, Schlipf N, Acunaş BA. A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis. Clin Dysmorphol. 2015, 24:115-117

Kiritsi D, Valari M, Fortugno P, Hausser I Lykopoulou L, Zambruno G, Fischer J, Bruckner-Tuderman L, Jakob T, Has C. Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations. J Allergy Clin Immunol. 2015, 135:280-283

Hotz A, Bourrat E, Hausser I, Haftek M, da Silva MV, Fischer J. Two novel mutations in the LOR gene in three families with loricrin keratoderma. Br J Dermatol. 2015, 172:1158-1162

Spoerri I, Brena M, De Mesmaeker J, Schlipf N, Fischer J, Tadini G, Itin PH, Burger B. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3' End of KRT10: From Disease to a Syndrome. JAMA Dermatol. 2015, 151:64-69

Das S, Stuart PE, Ding J, Tejasvi T, Li Y, Tsoi LC, Chandran V, Fischer J, Helms C, Duffin KC, Voorhees JJ, Bowcock AM, Krueger GG, Lathrop GM, Nair RP, Rahman P, Abecasis GR, Gladman D, Elder JT. Fine mapping of eight psoriasis susceptibility loci. Eur J Hum Genet. 2015, 23:844-853

Institutsleitung

Ärztliche Direktorin
Prof. Dr. med. Dr. Judith Fischer
(MD, PhD)

Direktionssekretariat
Yvonne Holzinger
Tel.: +49 (0)761-270-70510
Fax: +49 (0)761-270-70410
Telefonische Sprechzeiten:
Mo. - Fr. von 8.30 bis 12.30 Uhr

Postadresse

Institut für Humangenetik
Breisacher Str. 33
D-79106 Freiburg i. Br.