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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

599 related items for PubMed ID: 23562412

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

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
    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 15; 14(3):. PubMed ID: 36980989
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 39(3):420-424. PubMed ID: 35412663
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 40(1):107-112. PubMed ID: 36262015
    [Abstract] [Full Text] [Related]

  • 6. Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.
    Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A, Vega A.
    Br J Dermatol; 2011 Oct 15; 165(4):906-11. PubMed ID: 21668430
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 30(9):1290-1297. PubMed ID: 33786896
    [Abstract] [Full Text] [Related]

  • 8. 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 02; 96(7):932-937. PubMed ID: 27025581
    [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 02; 31(10):1090-6. PubMed ID: 20672373
    [Abstract] [Full Text] [Related]

  • 10. Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
    Li W, Oberlin KE, Wilson TE, Haggstrom AN.
    Pediatr Dermatol; 2020 Jan 02; 37(1):165-170. PubMed ID: 31631373
    [Abstract] [Full Text] [Related]

  • 11. Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
    Noguera-Morel L, Feito-Rodríguez M, Maldonado-Cid P, García-Miñáur S, Kamsteeg EJ, González-Sarmiento R, De Lucas-Laguna R, Hernández-Martín A, Torrelo A.
    Pediatr Dermatol; 2016 Jan 02; 33(2):e48-51. PubMed ID: 26646773
    [Abstract] [Full Text] [Related]

  • 12. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.
    Akiyama M, Sawamura D, Shimizu H.
    Clin Exp Dermatol; 2003 May 02; 28(3):235-40. PubMed ID: 12780701
    [Abstract] [Full Text] [Related]

  • 13. Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
    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 09; 12(1):. PubMed ID: 33435499
    [Abstract] [Full Text] [Related]

  • 14. Lamellar ichthyosis.
    Victor F, Schaffer JV.
    Dermatol Online J; 2005 Dec 30; 11(4):13. PubMed ID: 16403385
    [Abstract] [Full Text] [Related]

  • 15. Inherited ichthyosis: Non-syndromic forms.
    Takeichi T, Akiyama M.
    J Dermatol; 2016 Mar 30; 43(3):242-51. PubMed ID: 26945532
    [Abstract] [Full Text] [Related]

  • 16. 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 30; 182(3):729-737. PubMed ID: 31168818
    [Abstract] [Full Text] [Related]

  • 17. Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.
    Laiho E, Niemi KM, Ignatius J, Kere J, Palotie A, Saarialho-Kere U.
    Eur J Hum Genet; 1999 Sep 30; 7(6):625-32. PubMed ID: 10482949
    [Abstract] [Full Text] [Related]

  • 18. Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
    Shawky RM, Sayed NS, Elhawary NA.
    Dis Markers; 2004 Sep 30; 20(6):325-32. PubMed ID: 15665393
    [Abstract] [Full Text] [Related]

  • 19. Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.
    Hake L, Süßmuth K, Komlosi K, Kopp J, Drerup C, Metze D, Traupe H, Hausser I, Eckl KM, Hennies HC, Fischer J, Oji V.
    J Eur Acad Dermatol Venereol; 2022 Apr 30; 36(4):582-591. PubMed ID: 34908195
    [Abstract] [Full Text] [Related]

  • 20. Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.
    Alavi A, Shahshahani MM, Klotzle B, Fan JB, Ronaghi M, Elahi E.
    J Dermatol; 2012 Apr 30; 39(4):375-81. PubMed ID: 22098531
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 30.