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Zentrum für Verhornungsstörungen

B Zentrum im Freiburg Zentrum für Seltene Erkrankungen

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Versorgte Krankheitsbilder

  • Hereditäre Ichthyosen und Erythrokeratodermien
  • Hereditäre Palmoplantarkeratosen
Leitung & Kontakt

Prof. Dr. Dr. Judith Fischer & Prof. Dr. Cristina Has

Ansprechpartnerin: Ksenija Nesnova
Mail: sekretariat.humangenetik@uniklinik-freiburg.de 
Telefon: 0761 270-705100
Website: https://www.uniklinik-freiburg.de/humangenetik.html 

Patient*innenversorgung
Fallkonferenzen
Montag Dienstag Mittwoch Donnerstag Freitag
     

14:30 Uhr
Zentrum für Verhornungsstörungen |
Interdisziplinäre Fallbesprechung |
monatlich

  
Forschung
Publikationen

  1. Ennouri M, Zimmer AD, Bahloul E, Chaabouni R, Marrakchi S, Turki H, Fakhfakh F, Bougacha-Elleuch N, Fischer J. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation. BMC Med Genomics. 2022 Jan 5;15(1):4. doi: 10.1186/s12920-021-01154-z. PMID: 34983512; PMCID: PMC8729015.
  2. Komlosi K, Claris O, Collardeau-Frachon S, Kopp J, Hausser I, Mazereeuw-Hautier J, Jonca N, Zimmer AD, Sanlaville D, Fischer J. Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis. Front Genet. 2021 Dec 8;12:719624. doi: 10.3389/fgene.2021.719624. PMID: 34956305; PMCID: PMC8693085.
  3. Hake L, Süßmuth K, Komlosi K, Kopp J, Drerup C, Metze D, Traupe H, Hausser I, Eckl KM, Hennies HC, Fischer J, Oji V. Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis. J Eur Acad Dermatol Venereol. 2021 Dec 15. doi: 10.1111/jdv.17873. Epub ahead of print. PMID: 34908195.
  4. Pilz R, Opálka L, Majcher A, Grimm E, Van Maldergem L, Mihalceanu S, Schäkel K, Enk A, Aubin F, Bursztejn AC, Brischoux-Boucher E, Fischer J, Sandhoff R. Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients. Hum Mol Genet. 2021 Oct 23:ddab309. doi: 10.1093/hmg/ddab309. Epub ahead of print. PMID: 34686882.
  5. Frommherz L, Krause A, Kopp J, Hotz A, Hübner S, Reimer-Taschenbrecker A, Casetti F, Zirn B, Fischer J, Has C. High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany. J Eur Acad Dermatol Venereol. 2021 Nov;35(11):2293-2299. doi: 10.1111/jdv.17524. Epub 2021 Jul 29. PMID: 34273205.
  6. Kim MR, Oji V, Valentin F, Traupe H, Nofer JR, Hausser I, Hennies HC, Eckl K, Wudy SA, Sánchez-Guijo A, Kerschke L, Fischer J, Süßmuth K. Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling. Acta Derm Venereol. 2021 Sep 15;101(9):adv00546. doi: 10.2340/00015555-3887. PMID: 34396419.
  7. Kopp J, Has C, Hotz A, Grünert SC, Fischer J. Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome. Genes (Basel). 2021 Jul 29;12(8):1164. doi: 10.3390/genes12081164. PMID: 34440338.
  8. Alter S, Zimmer AD, Park M, Gong J, Caliebe A, Fölster-Holst R, Torrelo A, Colmenero I, Steinberg SF, Fischer J. Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1. J Med Genet. 2021 Jun;58(6):415-421. doi: 10.1136/jmedgenet-2019-106564. Epub 2020 Aug 17. PMID: 32817298.
  9.  Vornweg J, Gläser S, Ahmad-Anwar M, Zimmer AD, Kuhn M, Hörer S, Korenke GC, Grothaus J, Ott H, Fischer J. Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome. Br J Dermatol. 2021 Jun;184(6):1190-1192. doi: 10.1111/bjd.19815. Epub 2021 Mar 3. PMID: 33452671.
  10. Arteaga-Henrıquez M, Frommherz L, Fischer J, Has C. Autosomal recessive congenital ichthyoses (ARCI) in a bathing-suit” distribution: progression over time. Int J Dermatol. 2021 Aug;60(8):e296-e297. doi: 10.1111/ijd.15599. Epub 2021 Apr 12. PMID: 33846977.
  11. Juratli HA, Jägle S, Theiler M, Didona D, Happle R, Knöpfel N, Weibel L, Fischer J. Three novel pathogenic NEK9 variants in patients with nevus comedonicus: a case series. J Am Acad Dermatol. 2021 Apr 2:S0190-9622(21)00663-0. doi: 10.1016/j.jaad.2021.03.096. Epub ahead of print. PMID: 33819539.
  12. Mintoff D, Borg I, Vornweg J, Mercieca L, Merdzanic R, Numrich J, Aquilina S, Pace NP, Fischer J. A novel SPINK5 donor splice site variant in a child with Netherton syndrome. Mol Genet Genomic Med. 2021 Mar;9(3):e1611. doi: 10.1002/mgg3.1611. Epub 2021 Feb 3. PMID: 33534181; PMCID: PMC8104165.
  13. Jägle S, Juratli HA, Hickman G, Süssmuth K, Boente MC, Kopp J, Kirchmeier P, Zimmer A, Happle R, Bourrat E, Hamm H, Fischer J. Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin. Acta Derm Venereol. 2021 Feb 16;101(2):adv00397. doi: 10.2340/00015555-3753. PMID: 33491095.
  14. Saleva-Stateva M, Technau-Hafsi K, Frommherz L, Grüninger G, Jägle S, Dourmishev L, Miteva L, Fischer J, Has C. Recurrent MVD mutation in European patients with disseminated porokeratosis. Br J Dermatol. 2021 Feb;184(2):347-348. doi: 10.1111/bjd.19467. Epub 2020 Sep 16. PMID: 32767669.
  15. Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J. Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. PMID: 33435499; PMCID: PMC7826849.
  16. Saleva-Stateva M, Hess M, Technau-Hafsi K, Weibel L, Badea MA, Boente MDC, Theiler M, Fiandrino MJ, Hoeger P, Zimmer A, Rafei-Shamsabadi D, Balabanova M, Fischer J, Boerries M, Has C. Molecular characterization and natural history of linear porokeratosis: a case series. J Am Acad Dermatol. 2020 Dec 3:S0190-9622(20)33113-3. doi: 10.1016/j.jaad.2020.11.061.
  17. Komlosi K, Gläser S, Kopp J, Hotz A, Alter S, Zimmer AD, Beger C, Heinzel S, Schmidt C, Fischer J. Neonatal presentation of COG6-CDG with prominent skin phenotype. JIMD Rep. 2020 Aug 7;55(1):51-58. doi: 10.1002/jmd2.12154. PMID: 32905044; PMCID: PMC7463048.
  18. Hayani K, Giehl K, Kumbrink J, Fischer J, Schlaak M, French LE, Wollenberg A. Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle. Acta Derm Venereol. 2020 Aug 18;100(15):adv00241. doi: 10.2340/00015555-3599. PMID: 32725253.
  19. Stieler KM, Bartzela T, Finke C, Blume-Peytavi U, Fischer J. Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz. Acta Derm Venereol. 2020 Jul 28;100(14):adv00223. doi: 10.2340/00015555-3592. PMID: 32619014
  20. Schulte A, Traupe H, Happle R, Fischer J, Kiritsi D, Schulz P. Verrucous hyperkeratosis with predominant involvement of the left side of the body and concomitant onychodystrophy in a 17-year-old girl. - Verruköse Hyperkeratosen mit Bevorzugung der linken Körperseite und begleitender Onychodystrophie zweier Finger bei einem 17-jährigen Mädchen. J Dtsch Dermatol Ges. 2020 ;18(9):1054-1057. German. doi: 10.1111/ddg.14141_g. PMID: 32985803.
  21. Hermasch MA; Schnabel V; Schön MP; Fischer J; Frank J. Painful swollen skin alterations after water contact. Journal der Deutschen Dermatologischen Gesellschaft JDDG 2020, 18(7):764-768. doi: 10.1111/ddg.14098_g. PMID: 32713143
  22. Peters F, Kopp J, Fischer J, Tantcheva-Poór I. Mutation in TRPV3 causes painful focal plantar keratoderma. Journal of the European Academy of Dermatology and Venereology. 2020 ID: JDV16498, DOI: 10.1111/jdv.16498, ID: 16737700
  23. Alavi A, Darki F, Bidgoli MMR, Zare-Abdollahi D, Moini A, Shahshahani MM, Fischer J, Elahi E. Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree. Mol Genet Genomics. 2020 295(4):1039-1053. doi: 10.1007/s00438-020-01663-z. Epub 2020 Apr 6. PMID: 32253496
  24. Fischer J, Bourrat E. Genetics of Inherited Ichthyoses and Related Diseases. Acta Derm Venereol. 2020 Mar 25;100(7): adv00096.doi: 10.2340/00015555-3432. [Epub ahead of print] PMID: 32147747
  25. Juratli HA, Jägle S, Happle R, Avci P, Didona D, Fischer J. A Family with Palmar and Plantar Hyperkeratosis: A Quiz. Acta Derm Venereol. 2020 Feb 27;100(4):adv00064. doi: 10.2340/00015555-3419. PMID: 32052849
  26. Laadhar S, Ben Mansour R, Marrakchi S, Miled N, Ennouri M, Fischer J, Kaddechi MA, Turki H, Fakhfakh F. Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity. Mol Genet Genomic Med. 2020 Mar;8(3):e1104. doi: 10.1002/mgg3.1104. Epub 2019 Dec 26. PMID: 31876100; PMCID: PMC7057103
  27. Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, Brognoli D, Hickman G, Heinz L, Vabres P, Marrakchi S, Leclerc-Mercier S, Irvine A, Tadini G, Hamm H, Has C, Blume-Peytavi U, Mitter D, Reitenbach M, Hausser I, Zimmer AD, Alter S, Fischer J. Genetical, clinical and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. Hum Mutat. 2019, Dec; 40(12):2318-2333. doi: 10.1002/humu.23883. Epub 2019 Sep 6. [PMID: 31347739
  28. Frommherz L, Küsel J, Zimmer A, Fischer J, Has C. Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self-improving epidermolytic ichthyosis. Br J Dermatol. 2019 Jul 6. doi: 10.1111/bjd.18325. [Epub ahead of print] PMID: 31278741
  29. Emmert S, Iben S, Fischer J, Komlosi K, Betz RC, Frank J J, Has C. Ein neues Forum für seltene Hauterkrankungen. J Dtsch Dermatol Ges. 2019 Jun;17(6):672-673. doi: 10.1111/ddg.13863. PubMed PMID: 31241841.
  30. Fischer J. [Syndromes with scales and keratosis]. Hautarzt. 2019 70(7):497-505. doi: 10.1007/s00105-019-4417-5. Review. German. PMID: 31087125 C. Herz, M. Wobser, J. Fischer, H. Hamm.  Pachyonychia congenita and Steatocystoma multiplex due to Mutation in the Keratin 17 Gene. Akt Dermatol 2019; 45(01/02): 67-71. DOI: 10.1055/a-0806-9586 Georg Thieme Verlag KG Stuttgart New York. German
  31. Hörer S, Marrakchi S, Radner FPW, Zolles G, Heinz L, Eichmann TO, Has C, Salavei P, Mahfoud N, Turki H, Zimmer AD, Fischer J. A monoallelic two-hit mechanism in PLCD1 explains the genetic pathogenesis of hereditary trichilemmal cyst formation. J Invest Dermatol.  2019 Oct;139(10):2154-2163.e5. doi: 10.1016/j.jid.2019.04.015. Epub 2019 May 11. Süßmuth K, Metze D, Ullrich N, Hausser I, Fischer J, Steinbrink K, Traupe H, Oji V. Neue Therapieansätze für entzündliche und bullöse Formen kongenitaler Ichthyosen: erste klinische Erfahrungen. J Dtsch Dermatol Ges. 2019 May;17 Suppl 2:12-15. doi: 10.1111/ddg.13782. No abstract available. PMID:31037846
  32. Has C, Happle R, Fischer J, Grüninger G, Technau-Hafsi K. Postzygotic HRAS mutation in heterochromia of straight scalp hair. Br J Dermatol. 2019, 181(5):1074-1076;  doi: 10.1111/bjd.18045. [Epub ahead of print]
  33. Yilmaz P, Medvecz M, Kohlhase J, Küsel J, Fischer J, Has C. Alitretinoin in punctate palmoplantar keratoderma. Br J Dermatol. 2019 Apr;180(4):931-932. doi: 10.1111/bjd.17336. Epub 2018 Dec 19. No abstract available. PMID:30339730
  34. Has C, Küsel J, Happle R, Steinke H, Technau-Hafsi K, Fischer J. Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations. Br J Dermatol. 2019; 181(3):623-624. doi: 10.1111/bjd.17838.
  35. Chassain K, Croué A, Blanchard E, Leclerc-Mercier S, Fischer J, Martin L. Nagashima-type palmoplantar keratoderma: A little-known palmoplantar keratoderma in Europe. Ann Dermatol Venereol. 2019; 146:125-130. doi: 10.1016/j.annder.2018.11.005. Epub 2018 Dec 21. French.
  36. Alter S, Hotz A, Jahn A, Di Donato N, Schröck E, Smitka M, von der Hagen M, Schallner J, Menschikowski M, Gillitzer C, Laass MW, Fischer J, Tzschach A. Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. Am J Med Genet A. 2018; 176(12):2862-2866.
  37. Buthaina Al-Musalhi, Audrey Lovett, Herbert Srolovitz, Frode L. Jahnsen, Nina Schlipf, Judith Fischer, Denis Khnykin. Vernix Caseosa–like Hyperkeratotic Plaques in a French Canadian Infant. NeoReviews January 2018, volume 19 / issue 1 Visual Diagnosis
  38. Haiges D, Fischer J, Hörer S, Has C, Schempp CM. Biologic therapy targeting IL-17 ameliorates a case of congenital ichthyosiform cornification disorder. J Dtsch Dermatol Ges. 2018 Dec 3. doi: 10.1111/ddg.13716. [Epub ahead of print] No abstract available. PMID: 30506809
  39. Niculescu L, Ruini C, Srour J, Salzer S, Schönbuchner I, von Braunmühl T, Ruzicka T, Hohenleutner U, Giehl KA, Fischer J, Wollenberg A. Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome. Acta Derm Venereol. 2018 Nov 21. doi: 10.2340/00015555-3087. [Epub ahead of print] [IF 3,127]
  40. Mazereeuw-Hautier J, Vahlquist A, Traupe H, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljc M, Dreyfus I, El Hachem M, Fischer J, Ganemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, O'Toole EA, Oji V, Hernandez-Martin A. Management of congenital ichthyoses: European guidelines of care: Part One. Br J Dermatol. 2018 Sep 14. doi: 10.1111/bjd.17203. [Epub ahead of print] [IF 6,129]
  41. Mazereeuw-Hautier J, Hernandez-Martin A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljc M, Dreyfus I, El Hachem M, Fischer J, Ganemo A, Gouveia C, Gruber R, Hadj-Rabia S, Hohl D, Jonca N, Ezzedine K, Maier D, Malhotra R, Rodriguez M, Ott H, Paige DG, Pietrzak A, Poot F, Schmuth M, Sitek JC, Steijlen P, Wehr G, Moreen M, Vahlquist A, Traupe H, Oji V. Management of congenital ichthyoses: European guidelines of care: Part Two. Br J Dermatol. 2018 Jun 13. doi: 10.1111/bjd.16882. [Epub ahead of print] [IF 6,129]
  42. Hotz A, Bourrat E, Küsel J, Oji V, Alter S, Hake L, Korbi M, Ott H, Hausser I, Zimmer AD, Fischer J. Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. Hum Mutat. 2018 Oct;39(10):1305-1313. doi: 10.1002/humu.23594. Epub 2018 Aug 7. [IF 5,359]
  43. Onnis G, Chiaverini C, Hickman G, Dreyfus I, Fischer J, Bourrat E, Mazereeuw-Hautier J. Alitretinoin reduces erythema in inherited ichthyosis. Orphanet J Rare Dis. 2018 Apr 4;13(1):46. doi: 10.1186/s13023-018-0783-9. [IF 3,607]
  44. Onnis G, Bourrat E, Jonca N, Dreyfus I, Severino-Freire M, Pichery M, Fischer J, Mazereeuw-Hautier J. KLICK syndrome: an unusual phenotype. Br J Dermatol. 2018 178(6):1445-1446 doi: 10.1111/bjd.16318. [Epub ahead of print] [IF 6,129]
  45. A.-C. Bursztejn, Happle R, Charbit l, Leclerc-Mercier S, Hadj-Rabia S, Fraitag S, Küsel J,  Zimmer A, Fischer J. The PERIOPTER Syndrome (PERIOrificial and PTychotropic ERythrokeratoderma): A New Mendelian Disorder of Cornification. J Eur Acad Dermatol Venereol. 2018 May 25. doi: 10.1111/jdv.15089. [Epub ahead of print] [IF 4,287]
  46. de Almeida H Jr, Has C, Fischer J, Hausser I. Acral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders. J Eur Acad Dermatol Venereol. 2018 May;32(5):e206-e207. doi: 10.1111/jdv.14724. Epub 2017 Dec 19. [IF 4,287]
  47. Heinz L, Bourrat E, Vabres P, Thevenon J, Hotz A, Hörer S, Küsel J, Alter S, Zimmer AD, Happle R, and Fischer J. Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia Br J Dermatol. 2018 Jul 19. doi: 10.1111/bjd.17024. [Epub ahead of print] [IF 6,129]
  48. Pallesen K.A.U, Clemmensen O, Fischer J, Hertz JM and Bygum A. Ichthyosis with Confetti Inherited from a Mosaic Father. Acta Derm Venereol. 2018, 98(1):130-131. [Epub ahead of print] [IF 3,127]
  49. Oji V, Preil ML, Kleinow B, Wehr G, Fischer J, Hennies HC, Hausser I, Breitkreutz D, Aufenvenne K, Stieler K, Tantcheva-Poór I, Weidinger S, Emmert S, Hamm H, Perusquia-Ortiz AM, Zaraeva I, Diem A, Giehl K, Fölster-Holst R, Kiekbusch K, Höger P, Ott H, Traupe H. S1 guidelines for the diagnosis and treatment of ichthyoses - update. J Dtsch Dermatol Ges. 2017 Oct;15(10):1053-1065.
  50. Oji V, Preil ML, Kleinow B, Wehr G, Fischer J, Hennies HC, Hausser I, Breitkreutz D, Aufenvenne K, Stieler K, Tantcheva-Poór I, Weidinger S, Emmert S, Hamm H, Perusquia-Ortiz AM, Zaraeva I, Diem A, Giehl K, Fölster-Holst R, Kiekbusch K, Höger P, Ott H, Traupe H. J S1-Leitlinie zur Diagnostik und Therapie der Ichthyosen - Aktualisierung. Dtsch Dermatol Ges. 2017 Oct;15(10):1053-1065. doi: 10.1111/ddg.13340_g.
  51. Vahlquist A, Fischer J, Törmä H. Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment. American Journal of Clinical Dermatology Am J Clin Dermatol. 2018 Feb;19(1):51-66. Review. [IF 3,08]
  52. A. Hotz, C. Fagerberg, A. Vahlquist, A. Bygum, H. Törmä, M.-A. Rauschendorf, H. Zhang, L. Heinz, E. Bourrat, I. Hausser, V. Vestergaard, A. Dragomir, A. D. Zimmer, J. Fischer. Identification of Mutations in the SDR9C7 Gene in 6 Families with Autosomal Recessive Congenital Ichthyosis. Br J Dermatol. 2018 Mar;178(3):e207-e209. doi: 10.1111/bjd.15994. Epub 2018 Jan 21 [IF 6,129]
  53. Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Hausser I, Rauschendorf MA, Zimmer A and Fischer J. Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.. Am J Hum Genet. 2017; 100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007. [IF 10.79 ]
  54. Dick A, Tantcheva-Poor I, Oji V, Giehl KA, Fischer J, Krieg P, Schneider H, and Rauh M. Diminished protein-bound w-hydroxylated ceramides in the skin of ichthyosis patients with 12R-LOX or eLOX-3 deficiency. Br J Dermatol. 2017 doi: 10.1111/bjd.15406. [IF 6,129]
  55. Grond S, Eichmann TO, Dubrac S, Kolb D, Schmuth M, Fischer J, Crumrine D, Elias PM, Haemmerle G, Zechner R, Lass A, Radner FP. PNPLA1 deficiency in mice and humans leads to a defect in the synthesis of ω-O-acylceramides. J Invest Dermatol. 2017 137(2):394-402. [Epub ahead of print] [IF 6,915]
  56. Kirchmeier  P, Zimmer A, Bouadjar B, Rösler B, Fischer J. Whole-Exome-Sequencing reveals small deletions in CASP14 in patients with autosomal recessive inherited ichthyosis. Acta Derm Venereol. 2017, 97(1):102-104. [Epub ahead of print] [IF 3,72]
  57. Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. 19 novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. Br J Dermatol 2017 (doi: 10.1111/bjd.15308. [Epub ahead of print]) [IF 6,129]
  58. Pigors M, Sarig O, Heinz L, Plagnol V, Fischer J, Mohamad V, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP, and Blaydon DC. Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions. Am J Hum Genet. 2016, 99:430-436 [IF 8,37]
  59. Lau M, Tröger B, Anemüller W, Busche A, Fischer J. Kongenitale ichthyosiforme Erythrodermie - Kein alltägliches Hautbild: Congenital ichthyosiform erythroderma - No common presentation of skin. Monatsschr Kinderheilkd 2016 DOI 10.1007/s00112-016-0140-9
  60. Hellström Pigg M, Bygum A, Gånemo A, Virtanen M, Brandrup F, Zimmer AD, Hotz A, Vahlquist A, Fischer J. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. Acta Derm Venereol. 2016 doi: 10.2340/00015555-2418. [Epub ahead of print] [IF 3,653]
  61. Has C, Schwieger-Briel A, Schlipf N,Chmel N, Rösler R, Technau K, Thilo Jakob, Zimmer A and Fischer J. Target-sequence capture and high throughput sequencing identify a de novo CARD14 mutation in an infant with erythroderma. Acta Derm Venereol. 2016 doi: 10.2340/00015555-2446. [Epub ahead of print] [IF 3,653]
  62. Persa OD, Fischer J, Tantcheva-Poór I Linear scars in a 4-week-old girl. JAMA Dermatol. 2016 152:209-10 [IF 4.6 ]
  63. 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 2016; 174:1152-1156  [IF 4.275 ]
  64. 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. 2016; 96:473-478 [IF 3,653]
  65. 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 2016; 174:444-448 [IF 4.275]
  66. Noguera-Morel L1, Hernández-Ostiz S1, Casas-Fernández L2, Hernández-Martín A1, Rodríguez-Blanco I2, Requena L3, Hotz A4, Fischer J4, Torrelo A1.CHILD syndrome with minimal limb abnormalities. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e201-e202. doi: 10.1111/jdv.13526. Epub 2015 Nov 26. [IF 4.287]
  67. 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 [IF 3,638]
  68. 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 [IF 0,416]
  69. 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 [IF 11.248]
  70. 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 [IF 3.76]
  71. : 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 [IF 4.3]
  72. : 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 [IF 3.56]
  73. Kiely C, Devaney D, Fischer J, Lenane P, Irvine AD. Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations. Pediatr Dermatol. 2014, 31:517-518 [IF 1.04]
  74. Benoit S, Schlipf N, Hausser I, Fischer J, Hamm H. White Sponge nevus- a rare autosomal dominant keratinopathy. Klin Padiatr 2014, 226:375-376 [IF 1.9]
  75. Kirchmeier P, Sayar E, Hotz A, Hausser I, Islek A, Yilmaz A, Artan R, Fischer J. Novel mutation in the CLDN1 gene in a Turkish family with Neonatal Ichthyosis Sclerosing Cholangitis (NISCH) syndrome. Br J Dermatol. 2014, 170:976-978. [IF 3.76]
  76.  Traupe H, Fischer J, Oji V. Nonsyndromic types of ichthyoses - an update. J Dtsch Dermatol Ges 2014, 12:109-21 [IF 1.4]
  77. Radner FP, Fischer J. The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function. Biochim Biophys Acta. 2013 doi:pii: S1388-1981(13)00151-0. 10.1016/j.bbalip.2013.07.013 [IF 4.66 ]
  78. Radner FPW, Marrakchi, Kirchmeier P, Kim G-J, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J. Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans. Plos Genetics 2013, 9(6):e1003536 [IF 8.52]
  79. D Bornholdt, B Bouadjar, B Catteau, H Cox, D De Silva, J Fischer, S Hadj-Rabia, R Happle, M Holder-Espinasse, E Kaminski, A König, A Mégarbané, H Mégarbané, U Neidel, F Oeffner,V Oji, AT. Prescott, A Theos, H Traupe, A Vahlquist, M Virtanen, B van Bon, K Grzeschik Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. Hum Mutat. 2013 34:587-94. [IF 5.21]
  80. Nellen RG, Steijlen PM, Hennies HC, Fischer J, Munro CS, Jonkman MF, van Steensel MA, van Geel M. Haplotype analysis in Western European patients with Mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene. Br J Dermatol. 2013 168:1372-1374 [IF 3.76]
  81. Janssen MCH van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E. Symptomatic lipid storage in carriers for the PNPLA2 gene. Eur J Hum Genet. 2012 doi: 10.1038/ejhg.2012.256 [IF 3.56]
  82. Tsoi LC, Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y, Tejasvi T, Gudjonsson JE, Kang HM, Allen MH, McManus R, Novelli G, Samuelsson L, Schalkwijk J, Ståhle M, Burden AD, Smith CH, Cork MJ, Estivill X, Bowcock AM, Krueger GG, Weger W, Worthington J, Tazi-Ahnini R, Nestle FO, Hayday A, Hoffmann P, Winkelmann J, Wijmenga C, Langford C, Edkins S, Andrews R, Blackburn H, Strange A, Band G, Pearson RD, Vukcevic D, Spencer CC, Deloukas P, Mrowietz U, Schreiber S, Weidinger S, Koks S, Kingo K, Esko T, Metspalu A, Lim HW, Voorhees JJ, Weichenthal M, Wichmann HE, Chandran V, Rosen CF, Rahman P, Gladman DD, Griffiths CE, Reis A, Kere J; Collaborative Association Study of Psoriasis (CASP), Duffin KC, Helms C, Goldgar D, Li Y, Paschall J, Malloy MJ, Pullinger CR, Kane JP, Gardner J, Perlmutter A, Miner A, Feng BJ, Hiremagalore R, Ike RW, Christophers E, Henseler T, Ruether A, Schrodi SJ, Prahalad S, Guthery SL, Fischer J, Liao W, Kwok P, Menter A, Lathrop GM, Wise C, Begovich AB; Genetic Analysis of Psoriasis Consortium, Onoufriadis A, Weale ME, Hofer A, Salmhofer W, Wolf P, Kainu K, Saarialho-Kere U, Suomela S, Badorf P, Hüffmeier U, Kurrat W, Küster W, Lascorz J, Mössner R, Schürmeier-Horst F, Ständer M, Traupe H, Bergboer JG, Heijer Md, van de Kerkhof PC, Zeeuwen PL, Barnes L, Campbell LE, Cusack C, Coleman C, Conroy J, Ennis S, Fitzgerald O, Gallagher P, Irvine AD, Kirby B, Markham T, McLean WH, McPartlin J, Rogers SF, Ryan AW, Zawirska A, Giardina E, Lepre T, Perricone C, Martín-Ezquerra G, Pujol RM, Riveira-Munoz E, Inerot A, Naluai AT, Mallbris L, Wolk K, Leman J, Barton A, Warren RB, Young HS, Ricano-Ponce I, Trynka G; Psoriasis Association Genetics Extension, Pellett FJ, Henschel A, Aurand M, Bebo B, Gieger C, Illig T, Moebus S, Jöckel KH, Erbel R; Wellcome Trust Case Control Consortium 2, Donnelly P, Peltonen L, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Craddock N, Duncanson A, Jankowski J, Markus HS, Mathew CG, McCarthy MI, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Samani N, Viswanathan AC, Wood NW, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Su Z, Hunt SE, Gwilliam R, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Perez ML, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, Nair RP, Franke A, Barker JN, Abecasis GR, Elder JT, Trembath RC. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet. 2012, 44:1341-1348 [IF 35.21
  83.  Heylen E, Scherer G, Vincent MF, Marie S, Fischer J, and Nassogne MC. Tyrosinemia Type III detected via neonatal screening: management and outcome. Mol Genet Metab 2012, 107:605-607 [IF 2.83]
  84. Li H, Loriè EP, Fischer J, Vahlquist A, Törmä H. The Expression of Epidermal Lipoxygenases and Transglutaminase-1 Is Perturbed by NIPAL4 Mutations: Indications of a Common Metabolic Pathway Essential for Skin Barrier Homeostasis. J Invest Dermatol 2012, 132:2368-2375 [IF 6.19]
  85. Bourrat E, Blanchet-Bardon C, Derbois C, Cure S, Fischer J. Specific transglutaminase 1 mutation profiles in bathing suit ichthyosis and self-improving collodion ichthyosis. Phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis. Arch Dermatol 2012 148:1191-1195 [IF 4.76]
  86. Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim G-J, Lagoutte L, Degorce-Rubiales F, Radner FPW, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C and Fischer J. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet 2012; 44:140-147. [IF 35.21]
  87. Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC, Kelsell DP. Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion. Am J Hum Genet. 2011, 89:564-571 [IF 11.2]
  88. Riveira-Munoz E, He SM, Escaramís G, Stuart PE, Hüffmeier U, Lee C, Kirby B, Oka A, Giardina E, Liao W, Bergboer J, Kainu K, de Cid R, Munkhbat B, Zeeuwen PL, Armour JA, Poon A, Mabuchi T, Ozawa A, Zawirska A, Burden AD, Barker JN, Capon F, Traupe H, Sun LD, Cui Y, Yin XY, Chen G, Lim HW, Nair RP, Voorhees JJ, Tejasvi T, Pujol R, Munkhtuvshin N, Fischer J, Kere J, Schalkwijk J, Bowcock A, Kwok PY, Novelli G, Inoko H, Ryan AW, Trembath RC, Reis A, Zhang XJ, Elder JT, Estivill X. Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol. 2011, 131:1105-1109 [IF 6.19]
  89. Castori M, Castiglia D, Brancati F, Foglio M, Heath S, Floriddia G, Madonna S, Fischer J, Zambruno G. Two novel families delineate Schöpf-Schulz-Passarge Syndrome as a discrete entity within the WNT10A phenotypic spectrum. Clin Genet 2011, 79:92-95 [IF 4.25]
  90. Morice-Picard F, Léauté-Labrèze C, Décor A, Boralevi F, Lacombe D, Taieb A, Fischer J. A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis. Am J Med Genet A. 2010, 152A:2664-2665. [IF 2.3]
  91. Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies H-C, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WJ Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller A, Richard G, Matthias Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro J, Vabres P, Vahlquist A, Williams M, Traupe H. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009, Journal of the Amercican Academy of Dermatology JAAD 2010, 63:607-641. [IF 4.91]
  92. Vahlquist A, Bygum A, Gånemo A, Virtanen M, Hellström-Pigg M, Strauss G, Brandrup F, and Fischer J. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3 and TGM1 mutations in Scandinavian patients. J Invest Dermatol. 2010, 130:438-443 [IF 6.19]
  93. 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 [IF 4.25]
  94. 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 [IF 11.20]
  95. 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 [IF 6.19]
  96. Fischer J. Autosomal recessive congenital ichthyosis ARCI. J Invest Dermatol. 2009, 129:1319-1321 [IF 6.19]
  97. 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 [IF 6.19
  98. 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 [IF 35.21]
  99. Schweiger M, Schoiswohl G, Lass A, Radner FP, Haemmerle G, Malli R, Graier W, Cornaciu I, Oberer M, Salvayre R, Fischer J, Zechner R, Zimmermann R. The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding. J Biol Chem. 2008, 283: 17211-17220 [IF 4.65]
  100. Lesueur F, Oudot T, Heath S, Foglio M, Lathrop M, Prud'homme JF, Fischer J. ADAM33, a New Candidate for Psoriasis Susceptibility. PLoS ONE. 2007, 19;2(9):e906 [IF 3.53]
  101. Fischer J, Negre-Salvayre A, Salvayre R. [Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58 deficiency: myopathy, ichthyosis, but no obesity] Med Sci (Paris). 2007, 23(6-7):575-578 [article in French]
  102. Lesueur F, Lefèvre C, Has C, Guilloud-Bataille M, Oudot T, Mahé, E, Lahfa M, Mansouri S, Mosharraf-Olmolk H, Sobel E, Heath S, Lathrop, M, Dizier M-H, Prud'homme J-F, Fischer J. Confirmation of psoriasis susceptibility loci on chromosome 6p21 and 20p13 in French families. J Invest Dermatol. 2007, 127:1403-1409 [IF 6.19]
  103. Fischer J, Lefèvre C, Morava E, Mussini J-M, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) gene is mutated in neutral lipid storage disease with myopathy. Nat Genet 2007, 39:28-30 [IF 35.21]
  104. Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J. Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. J Invest Dermatol. 2007, 127:829-834 [IF 6.19]
  105. Ciesek S, Hadem J, Fischer J, Manns MP, Strassburg CP. A rare cause of nonalcoholic fatty liver disease. Ann Intern Med. 2006, 145:154-155 [IF 13.98]
  106. Lefevre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathrop M, Prud'homme JF, Fischer J. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet. 2006, 15:767-776 [IF 7.69]
  107. Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, Gonzalez-Ensenat MA, Fischer J, Azon A. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. Br J Dermatol. 2005, 153:838-841 [IF 3.76]
  108. Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF. Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. Arch Dermatol. 2005, 141:798-800 [IF 4.79]
  109. Elder JT, Cluster 17 Collaboration: (Abecasis G, Allen M, Barker J, Burden D, Capon F, Christophers E, Elder JT, Fischer J, Gudjonsson JE, Huffmeier U, Jenisch S, Karason A, Kere J, Nair RP, Novelli G, Prud'homme JF, Qin ZHS, Samuelsson L, Sanchez F, Saarialho-Kere U, Stahle M, Stuart P, Tillman D, Traupe H, Trembath R, Valdimarsson H, Veal C, Voorhees JJ, Weichenthal M). Fine mapping of the psoriasis susceptibility gene PSORS1: a reassessment of risk associated with a putative risk haplotype lacking HLA-Cw6. J Invest Dermatol 2005, 124:921-930 [IF 6.19]
  110. Rakyan VK, Hildmann T, Novik KL, Lewin J, Tost J, Cox AV, Andrews TD, Howe KL, Otto KL, Olek A Fischer J, Ivo G Gut, Kurt Berlin, Stephan Beck. DNA methylation profiling of the human major histocompatibility complex – a pilot study for the human epigenome project. PLos Biol 2004, 2: e405 [IF 12.69]
  111. Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Özguc M, Lathrop M, Prud'homme J-F and Fischer J. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 2004, 13:2473-2482 [IF 7.69]
  112. Caux F, Ben Selma Z, Laroche L, Prud’homme J-F, Fischer J. CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin Syndrome. Am J Med Genet A. 2004, 129:214 [IF 0.815]
  113. Srinivasan R, Hadzic N, Fischer J, Knisely AS. Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation. J Pediatr. 2004, 144:662-665 [IF 3.117]
  114. Chimienti F, Hogg RC, Plantard L, Lehmann C, Brakch N, Fischer J, Huber M, Bertrand D, Hohl D. Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. Hum Mol Genet. 2003, 12:3017-3024 [IF 8.597]
  115. Lefèvre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet- Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet. 2003, 12:2369-2378 [IF 8.597]
  116. Marrakchi S, Audebert S, Bouadjar B, Has C, Lefèvre C, Munro C, Cure S, Jobard S, Morlot S, Hohl D, Prud’homme JF, Zahaf A, Turki H, Fischer J. Novel mutations in the gene encoding SLURP-1 and description of five ancestral haplotypes in patients with Mal de Meleda. J Invest Dermatol 2003, 120:351-355 [IF 4.194]
  117. Bakija-Konsuo A, Basta-Juzbasic A, Rudan I, Situm M, Nardelli-Kovacic M, Levanat S, Fischer J, Hohl D, Loncaric D, Seiwert S, Campbell H. Mal de Meleda: genetic haplotype analysis and clinicopathological findings in cases originating from the island of Mljet (Meleda), Croatia. Dermatology 2002, 205:32-39 [IF 0.972]
  118. Mahé E, Lahfa M, Mansouri S, Mosharraf-Olmolk H, Le Rebours J, Prud’homme JF, Fischer J. Physicians’ response to a letter to confirm diagnosis in a genetic study of psoriasis. Eur J Dermatol 2002, 12:66-69 [IF 0.846]
  119. Lefèvre C, Blanchet-Bardon C, Jobard F, Bouadjar B, Stalder JF, Cure S, Hoffmann A, Prud'homme JF, Fischer J. Novel point mutations, deletions and polymorphisms in the cathepsin C gene in 9 families from Europe and North Africa with Papillon-Lefèvre syndrome. J Invest Dermatol 2001, 117:1657-1661 [IF 4.465]
  120. Jobard F, Lefèvre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Özgüc M, Lathrop M, Prud’homme JF, Fischer J. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in nonbullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 2002, 11:107-113 [IF 9.318]
  121. Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Özgüc M, Lathrop M, Prud'homme JF, Fischer J. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001, 69:1002-1012 [IF 10.542]
  122. Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop J, Hohl D, Prud’homme JF. Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet 2001, 10:875-880 [IF 9.318]
  123. Bouadjar B, Benmazouzia S, Cure S, Prud’homme JF, Fischer J. Mal de Meleda: Clinical and genetic studies of three large consanguineous Algerian families. Arch Dermatol 2000, 136:1247-1252 [IF 3.292]
  124. Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Özgüc M, Weissenbach J, Prud’homme JF. Two new loci for autosomal recessive ichthyosis and evidence for further genetic heterogeneity. Am J Hum Genet 2000, 66:904-913 [IF 10.351]
  125. Fischer J, Bouadjar B, Heilig R, Fizames C, Prud’homme JF, Weissenbach J. Genetic linkage of Meleda disease to chromosome 8qter. Eur J Hum Genet 1998, 6:542-547 [IF 2.554]
  126. Fischer J, Blanchet-Bardon C, Prud’homme JF, Pavek S, Steijlen PM, Dubertret L, Weissenbach J. Mapping of Papillon-Lefèvre syndrome to the chromosome 11q14 region. Eur J Hum Genet 1997, 5: 156-160 [IF 2.554]
  127. Yilmaz P, Medvecz M, Kohlhase J, Küsel J, Fischer J, Has C. Alitretinoin in punctate palmoplantar keratoderma. Br J Dermatol. 2018 Oct 19. doi: 10.1111/bjd.17336. [Epub ahead of print]
  128. Haiges D, Fischer J, Hörer S, Has C, Schempp CM. Biologic therapy targeting IL-17 ameliorates a case of congenital ichthyosiform cornification disorder. J Dtsch Dermatol Ges. 17(1):70-72, 2019
  129. Has C. Multiple facets of desmoglein 1 mutations. Br J Dermatol. 179(3):568-569, 2018
  130. Has C. Peeling Skin Disorders: A Paradigm for Skin Desquamation. J Invest Dermatol. 138(8):1689-1691, 2018
  131. Dănescu S, Leppert J, Cosgarea R, Zurac S, Pop S, Baican A, Has C. Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting). J Eur Acad Dermatol Venereol 31(3):e144-e146, 2017
  132. de Almeida H Jr, Has C, Rampon G, Isaacsson H, de Castro LA. MEND Syndrome: A Case Report with Scanning Electron Microscopy Findings of the Collodion Membrane. Acta Derm Venereol 4;96(7):110-111, 2017
  133. Has C, Schwieger-Briel A, Schlipf N, Hausser I, Chmel N, Rösler B, Technau K, Jakob T, Zimmer A, Fischer J. Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris. Acta Derm Venereol 96:989-990, 2016
  134. Has C, Technau-Hafsi K. Palmoplantar keratodermas: clinical and genetic aspects. J Dtsch Dermatol Ges. 14(2):123-39, 2016
  135. 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 135(1):280-3, 2015
  136. Pigors M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L, Fleck T, Has C. Desmoplakin mutations with palmoplantar keratoderma, woolly hair  and cardiomyopathy. Acta Derm Venereol 95(3):337-40, 2015
  137. Has C, Jakob T, He Y, Kiritsi D, Hausser I, Bruckner-Tuderman L. Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies. Br J Dermatol 172(1):257-61, 2015
  138. Kiritsi D, Nanda A, Kohlhase J, Bernhard C, Bruckner-Tuderman L, Happle R, Has C. Extensive Postzygotic Mosaicism for a Novel Keratin 10 Mutation in Epidermolytic Ichthyosis. Acta Derm Venereol 94(3):346-8, 2014
  139. Kiritsi D, Chmel N, Arnold AW, Jakob T, Bruckner-Tuderman L, Has C. Novel and Recurrent AAGAB Mutations: Clinical Variability and Molecular Consequences. J Invest Dermatol 133: 2483-6, 2013
  140. Kavaklieva S, Yordanova I, Bruckner-Tuderman L, Has C. Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. Case Rep Dermatol 5:210-4, 2013
  141. Pigors M, Kiritsi D, Cobzaru C, Schwieger-Briel A, Suárez J, Faletra F, Aho H, Mäkelä L, Kern JS, Bruckner-Tuderman L, Has C. TGM5 Mutations Impact Epidermal Differentiation in Acral Peeling Skin Syndrome. J Invest Dermatol 132:2422-9, 2012
  142. Burger B, Spoerri I, Schubert M, Has C, Itin PH. Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation. Br J Dermatol. 166(2):434-9, 2012
  143. Schumann H, Has C, Kohlhase J, Bruckner-Tuderman L. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. Br J Dermatol 159:464-9, 2008
  144. Marrakchi S, Audebert S, Bouadjar B, Has C, Lefevre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J. Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. J Invest Dermatol 120:351-5, 2003
  145. Has C, Seedorf U, Kannenberg F, Bruckner-Tuderman L, Folkers E, Fölster-Holst R, Baric I, Traupe H. Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome. J Invest Dermatol 118:851-8, 2002
  146. Misery L, Antoine JC, Touraine R, Wanders R, Maitre S, Has C, Perrot JL, Cambazard F. [Sjogren-Larsson syndrome: two cases with delayed diagnosis]. Ann Med Interne (Paris) 153:280-2, 2002
  147. Michel JL, Has C, Has V. Resurfacing CO2 laser treatment of linear verrucous epidermal nevus. Eur J Dermatol 11:436-9, 2001
  148. Has C, Bruckner-Tuderman L, Müller D, Floeth M, Folkers E, Donnai D, Traupe H. The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. Hum Mol Genet 9:1951-5, 2000
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Register Erkrankung Informationen zum Register
Ichthyosen Genetik Hereditäre Ichthyosen judith.fischer@uniklinik-freiburg.de; christina.has@uniklinik-freiburg.de
Ichthyosen Dermatologie Hereditäre Ichthyosen judith.fischer@uniklinik-freiburg.de; christina.has@uniklinik-freiburg.de
PPK Genetik Hereditäre Palmoplantarkeratosen judith.fischer@uniklinik-freiburg.de; christina.has@uniklinik-freiburg.de
PPK Dermatologie Hereditäre Palmoplantarkeratosen judith.fischer@uniklinik-freiburg.de; christina.has@uniklinik-freiburg.de
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