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 NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1997 1
2003 1
2005 1
2006 1
2008 1
2009 1
2010 2
2011 1
2012 1
2013 2
2014 2
2015 1
2018 1
2019 2
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

15 results

Results by year

Filters applied: . Clear all
Page 1
Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.
Akiyama M. Akiyama M. J Dermatol Sci. 2006 May;42(2):83-9. doi: 10.1016/j.jdermsci.2006.01.003. Epub 2006 Feb 14. J Dermatol Sci. 2006. PMID: 16481150 Free article. Review.
Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin ichthyosis (HI), lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. ...Transglutaminse 1 deficiency was re
Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin ichthyosis
Nonsyndromic types of ichthyoses - an update.
Traupe H, Fischer J, Oji V. Traupe H, et al. J Dtsch Dermatol Ges. 2014 Feb;12(2):109-21. doi: 10.1111/ddg.12229. Epub 2013 Oct 11. J Dtsch Dermatol Ges. 2014. PMID: 24119255 Free article. Review.
It is caused by steroid sulfatase deficiency and is often associated with further clinical problems, such as cryptorchidism (20%) or social communication deficits, such as attention deficit hyperactivity syndrome (40%) or autism (25%). Autosomal recessive congeni
It is caused by steroid sulfatase deficiency and is often associated with further clinical problems, such as cryptorchidism (20%) or social …
Bathing suit ichthyosis.
Trindade F, Fiadeiro T, Torrelo A, Hennies HC, Hausser I, Traupe H. Trindade F, et al. Eur J Dermatol. 2010 Jul-Aug;20(4):447-50. doi: 10.1684/ejd.2010.1008. Epub 2010 Jun 3. Eur J Dermatol. 2010. PMID: 20522418 Review.
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis due to transglutaminase-1 (TGase-1) gene mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling rest …
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis due to transgl …
The role of PNPLA1 in ω-O-acylceramide synthesis and skin barrier function.
Hirabayashi T, Murakami M, Kihara A. Hirabayashi T, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Jun;1864(6):869-879. doi: 10.1016/j.bbalip.2018.09.010. Epub 2018 Oct 2. Biochim Biophys Acta Mol Cell Biol Lipids. 2019. PMID: 30290227 Review.
The human genome encodes nine enzymes belonging to the patatin-like phospholipase domain-containing lipase (PNPLA)/Ca(2+)-independent phospholipase A(2) (iPLA(2)) family. Although most PNPLA/iPLA(2) enzymes are widely distributed and act on phospholipi …
The human genome encodes nine enzymes belonging to the patatin-like phospholipase domain-containing lipase (PNPLA)/Ca(2+)-independent …
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L. DiGiovanna JJ, et al. Am J Clin Dermatol. 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. Am J Clin Dermatol. 2003. PMID: 12553849 Review.
Clinical presentation, pattern of inheritance, and laboratory evaluation may establish a precise diagnosis, which can assist in prognosis and genetic counseling. Congenital autosomal recessive ichthyosis (CARI) usually presents at birth, often as a col …
Clinical presentation, pattern of inheritance, and laboratory evaluation may establish a precise diagnosis, which can assist in prognosis an …
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
Liu JJ, Yuan YY, Zhang XQ, Li ZM, Xu YS, Gao SM, Cai JF, Shao XH, Lin XH, Li BX. Liu JJ, et al. Clin Exp Dermatol. 2015 Jan;40(1):56-62. doi: 10.1111/ced.12410. Epub 2014 Aug 22. Clin Exp Dermatol. 2015. PMID: 25154629 Review.
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases of keratinization, characterized primarily by abnormal skin scaling over the whole body surface. Recently, ARCI has been designated to include the major f …
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases of keratinizat …
CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs.
Feske S. Feske S. Cell Calcium. 2019 Jun;80:112-116. doi: 10.1016/j.ceca.2019.03.004. Epub 2019 Mar 11. Cell Calcium. 2019. PMID: 31009822 Free PMC article. Review.
Ca(2+) release-activated Ca(2+) (CRAC) channels are intimately linked with health and disease. The gene encoding the CRAC channel, ORAI1, was discovered in part by genetic analysis of patients with abolished CRAC channel function. And patients with autosomal
Ca(2+) release-activated Ca(2+) (CRAC) channels are intimately linked with health and disease. The gene encoding the CRAC chan …
Malignant skin tumours in patients with inherited ichthyosis.
Natsuga K, Akiyama M, Shimizu H. Natsuga K, et al. Br J Dermatol. 2011 Aug;165(2):263-8. doi: 10.1111/j.1365-2133.2011.10381.x. Epub 2011 Jul 11. Br J Dermatol. 2011. PMID: 21517795 Review.
Inherited ichthyoses are rare genodermatoses caused by mutations in the genes involved in epidermal development. Although there have been case reports on patients with ichthyosis who developed skin malignancies, it is still unknown whether or not patients with ichthyosi
Inherited ichthyoses are rare genodermatoses caused by mutations in the genes involved in epidermal development. Although there have been ca …
Update on Sjögren-Larsson syndrome.
Lacour M. Lacour M. Dermatology. 1996;193(2):77-82. doi: 10.1159/000246217. Dermatology. 1996. PMID: 8884139 Review.
Sjogren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fatty aldehyde dehydrogenase and defined by a characteristic triad of symptoms including congenital ichthyosis, spastic di- or q …
Sjogren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fa …
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009.
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 HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Oji V, et al. J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. J Am Acad Dermatol. 2010. PMID: 20643494 Review.
Several clinical terms and controversial disease names have been redefined: eg, the group caused by keratin mutations is referred to by the umbrella term, "keratinopathic ichthyosis"-under which are included epidermolytic ichthyosis, superficial epidermolytic ich
Several clinical terms and controversial disease names have been redefined: eg, the group caused by keratin mutations is referred to by the …
15 results