Jan Cezary Sitek
- Head of department, Senior dermatologist; MD
Research topics: Genetic skin disorders, pediatric dermatology
Publications 2021
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
Hum. Mol. Genet., 30 (21), 1919-1931
DOI 10.1093/hmg/ddab144
Publications 2020
Birt-Hogg-Dube-syndrome
Tidsskr. Nor. Laegeforen., 140 (6), 565-569
Multidisciplinary educational programme for caregivers of children with atopic dermatitis- in South East Norway - an observational study
BMC Dermatol., 20 (1), 20
DOI 10.1186/s12895-020-00119-6
Publications 2019
Management of congenital ichthyoses: European guidelines of care, part two
Br. J. Dermatol., 180 (3), 484-495
DOI 10.1111/bjd.16882
Management of congenital ichthyoses: European guidelines of care, part one
Br. J. Dermatol., 180 (2), 272-281
DOI 10.1111/bjd.17203
Publications 2018
Whole-exome sequencing for diagnosis of hereditary ichthyosis
J. Eur. Acad. Dermatol. Venereol., 32 (6), 1022-1027
DOI 10.1111/jdv.14870
Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis
JAMA Dermatol., 154 (7), 847-849
DOI 10.1001/jamadermatol.2018.0308
Publications 2017
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families
Am. J. Hum. Genet., 100 (5), 737-750
DOI 10.1016/j.ajhg.2017.03.012
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
Am. J. Med. Genet. A, 173 (5), 1447-1449
DOI 10.1002/ajmg.a.38177
Actinic prurigo in Scandinavian adolescent successfully treated with cyclosporine A
Dermatol. Rep., 9 (1), 7050-35
DOI 10.4081/dr.2017.7050
Publications 2015
An itchy souvenir
Tidsskr. Nor. Laegeforen., 135 (18), 1652
Epidermal Expression and Regulation of Interleukin-33 during Homeostasis and Inflammation: Strong Species Differences
J. Invest. Dermatol., 135 (7), 1771-1780
DOI 10.1038/jid.2015.85
Publications 2014
The Prevalence of Skin Disorders in Norwegian Paediatric Renal Transplant Recipients
Acta Derm.-Venereol., 94 (4), 421-424
DOI 10.2340/00015555-1741
Publications 2012
Ichthyosis prematurity syndrome: Clinical evaluation of 17 families with a rare disorder of lipid metabolism
J. Am. Acad. Dermatol., 66 (4), 606-616
DOI 10.1016/j.jaad.2011.04.014
Publications 2008
Narrowband UVB therapy for vitiligo: does the repigmentation last? (vol 21, pg 891, 2007)
J. Eur. Acad. Dermatol. Venereol., 22 (1), 139
Publications 2007
Narrowband UVB therapy for vitiligo: does the repigmentation last?
J. Eur. Acad. Dermatol. Venereol., 21 (7), 891-896
DOI 10.1111/j.1468-3083.2007.01980.x