Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

18 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.
Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR. Rustad CF, et al. Among authors: sitek jc. Am J Med Genet A. 2017 May;173(5):1447-1449. doi: 10.1002/ajmg.a.38177. Epub 2017 Apr 3. Am J Med Genet A. 2017. PMID: 28371307 No abstract available.
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK. Fjær R, et al. Among authors: sitek jc. Hum Mol Genet. 2021 Oct 13;30(21):1919-1931. doi: 10.1093/hmg/ddab144. Hum Mol Genet. 2021. PMID: 34124757 Free PMC article.
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B, Bruccoleri R, Stokowy T, Oakeley EJ, Yang F, Zhu J, Sultan M, Schalkwijk J, van Vlijmen-Willems IMJJ, von der Lippe C, Brunner HG, Ersland KM, Grayson W, Buechmann-Moller S, Sundnes O, Nirmala N, Morgan TM, van Bokhoven H, Steen VM, Hull PR, Szustakowski J, Staedtler F, Zhou H, Fiskerstrand T, Ramsay M. Ngcungcu T, et al. Among authors: sitek jc. Am J Hum Genet. 2017 May 4;100(5):737-750. doi: 10.1016/j.ajhg.2017.03.012. Epub 2017 Apr 27. Am J Hum Genet. 2017. PMID: 28457472 Free PMC article.
Whole-exome sequencing for diagnosis of hereditary ichthyosis.
Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L. Sitek JC, et al. J Eur Acad Dermatol Venereol. 2018 Jun;32(6):1022-1027. doi: 10.1111/jdv.14870. Epub 2018 Mar 9. J Eur Acad Dermatol Venereol. 2018. PMID: 29444371
Management of congenital ichthyoses: European guidelines of care, part two.
Mazereeuw-Hautier J, Hernández-Martín A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Bourrat E, Diociaiuti A, Dolenc-Voljč 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. Mazereeuw-Hautier J, et al. Among authors: sitek jc. Br J Dermatol. 2019 Mar;180(3):484-495. doi: 10.1111/bjd.16882. Epub 2018 Dec 3. Br J Dermatol. 2019. PMID: 29897631
18 results