F Fellmann

Publications (4)15.06 Total impact

• Article: Bilateral carotid thrombus formation after strenuous coughing.

  F Siclari, L Hirt, R Meuli, F Fellmann, P Gailloud, P Michel
  European Journal of Neurology 05/2009; 16(7):e122-3. · 3.69 Impact Factor
• Article: [Genetic dermatology clinics: a practical approach].

  D Hohl, F Fellmann
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  ABSTRACT: There are numerous genodermatoses and different types of transmission. Recent technological progress of molecular genetics allows to confirm or specify increasingly the clinical diagnosis and to better define the risk of recurrency. A close collaboration of dermatologists and geneticists has been established at CHUV since several years. By means of clinical examples we illustrate the organisation and procedures of this pluridisciplinary consultation which aims to optimize the clinical management of rare genetic diseases.
  Revue médicale suisse 05/2008; 4(155):1084-8.
• Article: Confirmation of the origin of NISCH syndrome.

  L Feldmeyer, M Huber, F Fellmann, J S Beckmann, E Frenk, D Hohl
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  ABSTRACT: Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin-1. Only four patients carrying the same mutation of the CLDN1 gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the CLDN1 gene.
  Human Mutation 06/2006; 27(5):408-10. · 5.69 Impact Factor
• Article: Confirmation of the origin of NISCH syndrome

  L. Feldmeyer, M. Huber, F. Fellmann, J.S. Beckmann, E. Frenk, D. Hohl
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  ABSTRACT: Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin-1. Only four patients carrying the same mutation of the CLDN1 gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the CLDN1 gene. Hum Mutat 27(5), 408–410, 2006. © 2006 Wiley-Liss, Inc.
  Human Mutation 04/2006; 27(5):408 - 410. · 5.69 Impact Factor