BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 21168995)

  • 1. New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.
    Umemoto H; Akiyama M; Yanagi T; Sakai K; Aoyama Y; Oizumi A; Suga Y; Kitagawa Y; Shimizu H
    J Dermatol Sci; 2011 Feb; 61(2):136-9. PubMed ID: 21168995
    [No Abstract]   [Full Text] [Related]  

  • 2. A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.
    Rajpar SF; Cullup T; Kelsell DP; Moss C
    Br J Dermatol; 2006 Jul; 155(1):204-6. PubMed ID: 16792777
    [No Abstract]   [Full Text] [Related]  

  • 3. Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.
    Aggarwal S; Kar A; Bland P; Kelsell D; Dalal A
    Gene; 2015 Feb; 556(2):254-6. PubMed ID: 25479012
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A novel ABCA12 mutation 3270delT causes harlequin ichthyosis.
    Akiyama M; Sakai K; Wolff G; Hausser I; McMillan JR; Sawamura D; Shimizu H
    Br J Dermatol; 2006 Nov; 155(5):1064-6. PubMed ID: 17034544
    [No Abstract]   [Full Text] [Related]  

  • 6. ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.
    Esperón-Moldes U; Ginarte M; Rodríguez-Pazos L; Fachal L; Pozo T; Aguilar JL; Del Boz González J; Santiago AM; Vega A
    J Dermatol Sci; 2018 Sep; 91(3):328-331. PubMed ID: 29887490
    [No Abstract]   [Full Text] [Related]  

  • 7. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
    Akiyama M; Sugiyama-Nakagiri Y; Sakai K; McMillan JR; Goto M; Arita K; Tsuji-Abe Y; Tabata N; Matsuoka K; Sasaki R; Sawamura D; Shimizu H
    J Clin Invest; 2005 Jul; 115(7):1777-84. PubMed ID: 16007253
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ABCA12 is the major harlequin ichthyosis gene.
    Thomas AC; Cullup T; Norgett EE; Hill T; Barton S; Dale BA; Sprecher E; Sheridan E; Taylor AE; Wilroy RS; DeLozier C; Burrows N; Goodyear H; Fleckman P; Stephens KG; Mehta L; Watson RM; Graham R; Wolf R; Slavotinek A; Martin M; Bourn D; Mein CA; O'Toole EA; Kelsell DP
    J Invest Dermatol; 2006 Nov; 126(11):2408-13. PubMed ID: 16902423
    [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 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
    Akiyama M; Sakai K; Sato T; McMillan JR; Goto M; Sawamura D; Shimizu H
    Dermatology; 2007; 215(2):155-9. PubMed ID: 17684380
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
    Thomas AC; Sinclair C; Mahmud N; Cullup T; Mellerio JE; Harper J; Dale BA; Turc-Carel C; Hohl D; McGrath JA; Vahlquist A; Hellstrom-Pigg M; Ganemo A; Metcalfe K; Mein CA; O'Toole EA; Kelsell DP
    Br J Dermatol; 2008 Mar; 158(3):611-3. PubMed ID: 17986308
    [No Abstract]   [Full Text] [Related]  

  • 12. Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.
    Takeichi T; Sugiura K; Matsuda K; Kono M; Akiyama M
    J Dermatol Sci; 2013 Mar; 69(3):259-61. PubMed ID: 23200509
    [No Abstract]   [Full Text] [Related]  

  • 13. Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.
    Xie H; Xie Y; Peng R; Li L; Zhu Y; Guo J
    Clin Exp Dermatol; 2016 Aug; 41(6):636-9. PubMed ID: 27381714
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation.
    Koochek A; Choate KA; Milstone LM
    Pediatr Dermatol; 2014; 31(2):e63-4. PubMed ID: 24274932
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.
    Sharma A; Rozzelle A; Jahnke MN; Desai J; Shwayder TA; Kisseih E; Bryant JR; Agarwal P
    Pediatr Dermatol; 2019 May; 36(3):339-341. PubMed ID: 30809833
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.
    Follmann J; Macchiella D; Whybra C; Mildenberger E; Poarangan C; Zechner U; Bartsch O
    Gene; 2013 Dec; 531(2):510-3. PubMed ID: 24055722
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.
    Akiyama M
    Arch Dermatol; 2006 Jul; 142(7):914-8. PubMed ID: 16847209
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.