These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

257 related articles for article (PubMed ID: 36980989)

  • 1. Mutational Spectrum of the
    Hotz A; Kopp J; Bourrat E; Oji V; Süßmuth K; Komlosi K; Bouadjar B; Tantcheva-Poór I; Hellström Pigg M; Betz RC; Giehl K; Schedel F; Weibel L; Schulz S; Stölzl DV; Tadini G; Demiral E; Berggard K; Zimmer AD; Alter S; Fischer J
    Genes (Basel); 2023 Mar; 14(3):. PubMed ID: 36980989
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
    Diociaiuti A; Corbeddu M; Rossi S; Pisaneschi E; Cesario C; Condorelli AG; Samela T; Giancristoforo S; Angioni A; Zambruno G; Novelli A; Alaggio R; Abeni D; El Hachem M
    Dermatology; 2024; 240(3):397-413. PubMed ID: 38588653
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
    Chiramel MJ; Mathew L; Athirayath R; Chapla A; Sathishkumar D; Mani T; Danda S; George R
    Pediatr Dermatol; 2022 May; 39(3):420-424. PubMed ID: 35412663
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
    Sugiura K; Akiyama M
    J Dermatol Sci; 2015 Jul; 79(1):4-9. PubMed ID: 25982146
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
    Simpson JK; Martinez-Queipo M; Onoufriadis A; Tso S; Glass E; Liu L; Higashino T; Scott W; Tierney C; Simpson MA; Desomchoke R; Youssefian L; SaeIdian AH; Vahidnezhad H; Bisquera A; Ravenscroft J; Moss C; O'Toole EA; Burrows N; Leech S; Jones EA; Lim D; Ilchyshyn A; Goldstraw N; Cork MJ; Darne S; Uitto J; Martinez AE; Mellerio JE; McGrath JA
    Br J Dermatol; 2020 Mar; 182(3):729-737. PubMed ID: 31168818
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
    Mohamad J; Samuelov L; Malchin N; Rabinowitz T; Assaf S; Malki L; Malovitski K; Israeli S; Grafi-Cohen M; Bitterman-Deutsch O; Molho-Pessach V; Cohen-Barak E; Bach G; Garty BZ; Bergman R; Harel A; Nanda A; Lestringant GG; McGrath J; Shalev S; Shomron N; Mashiah J; Eskin-Schwartz M; Sprecher E; Sarig O
    Exp Dermatol; 2021 Sep; 30(9):1290-1297. PubMed ID: 33786896
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Meta-Analysis of Mutations in
    Hotz A; Kopp J; Bourrat E; Oji V; Komlosi K; Giehl K; Bouadjar B; Bygum A; Tantcheva-Poor I; Hellström Pigg M; Has C; Yang Z; Irvine AD; Betz RC; Zambruno G; Tadini G; Süßmuth K; Gruber R; Schmuth M; Mazereeuw-Hautier J; Jonca N; Guez S; Brena M; Hernandez-Martin A; van den Akker P; Bolling MC; Hannula-Jouppi K; Zimmer AD; Alter S; Vahlquist A; Fischer J
    Genes (Basel); 2021 Jan; 12(1):. PubMed ID: 33435499
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
    Noda T; Takeichi T; Tanahashi K; Ogawa Y; Takeuchi S; Yoshikawa T; Toriyama E; Ashida M; Imakado S; Tsuchihashi H; Okamoto T; Okuno Y; Ogi T; Sugiura K; Kubo A; Muro Y; Suga Y; Ishida-Yamamoto A; Akiyama M
    Exp Dermatol; 2024 Apr; 33(4):e15072. PubMed ID: 38576105
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
    Akiyama M
    Hum Mutat; 2010 Oct; 31(10):1090-6. PubMed ID: 20672373
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
    Liu JW; Guo K; Zhang R; Wang R; Ma DL; Zhang X
    Mol Genet Genomic Med; 2024 May; 12(5):e2431. PubMed ID: 38702946
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
    Montalván-Suárez M; Esperón-Moldes US; Rodríguez-Pazos L; Ordóñez-Ugalde A; Moscoso F; Ugalde-Noritz N; Santomé L; Fachal L; Tettamanti-Miranda D; Ruiz JC; Ginarte M; Vega A
    Mol Genet Genomic Med; 2019 May; 7(5):e608. PubMed ID: 30916489
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Autosomal recessive congenital ichthyosis.
    Rodríguez-Pazos L; Ginarte M; Vega A; Toribio J
    Actas Dermosifiliogr; 2013 May; 104(4):270-84. PubMed ID: 23562412
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.
    Takeichi T; Hamada T; Yamamoto M; Ito Y; Kawaguchi A; Kobashi H; Yoshikawa T; Koga H; Ishii N; Nakama T; Muro Y; Ogi T; Akiyama M
    J Dermatol; 2024 Jan; 51(1):101-105. PubMed ID: 37752865
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
    Hotz A; Bourrat E; Küsel J; Oji V; Alter S; Hake L; Korbi M; Ott H; Hausser I; Zimmer AD; Fischer J
    Hum Mutat; 2018 Oct; 39(10):1305-1313. PubMed ID: 30011118
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
    Lima Cunha D; Alakloby OM; Gruber R; Kakar N; Ahmad J; Alawbathani S; Plank R; Eckl K; Krabichler B; Altmüller J; Nürnberg P; Zschocke J; Borck G; Schmuth M; Alabdulkareem AS; Abdulaziz Alnutaifi K; Hennies HC
    Mol Genet Genomic Med; 2019 Mar; 7(3):e539. PubMed ID: 30600594
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
    Pigg MH; Bygum A; Gånemo A; Virtanen M; Brandrup F; Zimmer AD; Hotz A; Vahlquist A; Fischer J
    Acta Derm Venereol; 2016 Nov; 96(7):932-937. PubMed ID: 27025581
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.
    Nawaz S; Tariq M; Ahmad I; Malik NA; Baig SM; Dahl N; Klar J
    Eur J Dermatol; 2012; 22(2):178-81. PubMed ID: 22257947
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.
    Supsrisunjai C; Bunnag T; Chaowalit P; Boonpuen N; Kootiratrakarn T; Wessagowit V
    Pediatr Dermatol; 2023 Jan; 40(1):107-112. PubMed ID: 36262015
    [TBL] [Abstract][Full Text] [Related]  

  • 19. High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.
    Frommherz L; Krause A; Kopp J; Hotz A; Hübner S; Reimer-Taschenbrecker A; Casetti F; Zirn B; Fischer J; Has C
    J Eur Acad Dermatol Venereol; 2021 Nov; 35(11):2293-2299. PubMed ID: 34273205
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.
    van Leersum FS; Seyger MMB; Theunissen TEJ; Bongers EMHF; Steijlen PM; van Geel M
    Br J Dermatol; 2020 Jan; 182(1):208-211. PubMed ID: 31206590
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.