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Quoted phrase not found in phrase index: "Autosomal recessive congenital ichthyosis 1"
Page 1
Autosomal recessive congenital ichthyosis.
Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Rodríguez-Pazos L, et al. Actas Dermosifiliogr. 2013 May;104(4):270-84. doi: 10.1016/j.adengl.2011.11.021. Epub 2013 Apr 3. Actas Dermosifiliogr. 2013. PMID: 23562412 Free article. Review. English, Spanish.
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and …
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization …
Neu Laxova syndrome.
Dwivedi T, Gosavi M. Dwivedi T, et al. Indian J Pathol Microbiol. 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. Indian J Pathol Microbiol. 2019. PMID: 30706883
The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, low set ears, microcephaly, slopping forehead, wide interdigital spaces, edema of hands and feet, hypoplastic penis, right leg showed conge …
The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, lo …
Nail involvement in autosomal recessive congenital ichthyosis.
Zaouak A, Chamli A, Ben Mansour N, Jouini W, Fenniche S, Hammami H. Zaouak A, et al. Clin Dermatol. 2022 Jul-Aug;40(4):388-394. doi: 10.1016/j.clindermatol.2022.02.012. Epub 2022 Feb 15. Clin Dermatol. 2022. PMID: 35181410 Review.
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsyndromic ichthyosis. ...A total of 25 patients with ARCI had a clinical and dermatoscopic review. The mean age was 19.8 years (range, …
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsy …
Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.
Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V. Supsrisunjai C, et al. Pediatr Dermatol. 2023 Jan;40(1):107-112. doi: 10.1111/pde.15156. Epub 2022 Oct 19. Pediatr Dermatol. 2023. PMID: 36262015
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogenous group of rare keratinization disorders. ...Congenital ichthyosiform erythroderma (CIE) was most common (60.6%), followed by lamellar ichthyosis (18.2%), …
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a heterogenous group of rare keratinization diso …
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
Mohamad J, Samuelov L, Assaf S, Malki L, Malovitski K, Meijers O, Adir N, Granot E, Pavlovsky M, Sarig O, Sprecher E. Mohamad J, et al. Am J Med Genet A. 2022 Oct;188(10):2879-2887. doi: 10.1002/ajmg.a.62924. Epub 2022 Aug 3. Am J Med Genet A. 2022. PMID: 35920354
Autosomal recessive congenital ichthyosis (ARCI) refers to a large and genetically heterogenous group of non-syndromic disorders of cornification featuring diffuse scaling. Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (IL …
Autosomal recessive congenital ichthyosis (ARCI) refers to a large and genetically heterogenous group of non-syn …
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.
CARI can progress into any one of a spectrum of disorders. Lamellar ichthyosis is characterized by dark, plate (armor)-like scale. ...It may be due to mutations in the gene encoding the intermediate filament proteins keratin 1 and 10. Ichthyosis vulgar …
CARI can progress into any one of a spectrum of disorders. Lamellar ichthyosis is characterized by dark, plate (armor)-like sc …
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J. Heinz L, et al. Am J Hum Genet. 2017 Jun 1;100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007. Am J Hum Genet. 2017. PMID: 28575648 Free PMC article.
Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Using whole-exome sequencing (WES) and multigene panel screening, …
Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARC …
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.
Today we distinguish between non-syndromic and syndromic forms. Ichthyosis vulgaris is the most frequent type (prevalence 1:100) and is caused by autosomal semi-dominant filaggrin mutations. ...It is caused by steroid sulfatase deficiency and is often associa …
Today we distinguish between non-syndromic and syndromic forms. Ichthyosis vulgaris is the most frequent type (prevalence 1:10 …
Knockdown of SDR9C7 Impairs Epidermal Barrier Function.
Youssefian L, Niaziorimi F, Saeidian AH, South AP, Khosravi-Bachehmir F, Khodavaisy S, Vahidnezhad H, Uitto J. Youssefian L, et al. J Invest Dermatol. 2021 Jul;141(7):1754-1764.e1. doi: 10.1016/j.jid.2020.11.030. Epub 2021 Jan 7. J Invest Dermatol. 2021. PMID: 33422619 Free article.
The Mendelian disorders of cornification consist of a highly heterogeneous group of diseases, and the majority of nonsyndromic cases belong to the family of autosomal recessive congenital ichthyosis. Mutations in SDR9C7 have been associated with aut …
The Mendelian disorders of cornification consist of a highly heterogeneous group of diseases, and the majority of nonsyndromic cases belong …
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.
Ennouri M, Zimmer AD, Bahloul E, Chaabouni R, Marrakchi S, Turki H, Fakhfakh F, Bougacha-Elleuch N, Fischer J. Ennouri M, et al. BMC Med Genomics. 2022 Jan 5;15(1):4. doi: 10.1186/s12920-021-01154-z. BMC Med Genomics. 2022. PMID: 34983512 Free PMC article.
Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syndromic forms. ...METHODS: A total of 11 Tunisian patients with non-syndromic (8 with ARCI and 2 with ILC) and autosomal syndromic …
Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non- …
78 results