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

205 related items for PubMed ID: 33954798

  • 21. 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; 39(4):375-81. PubMed ID: 22098531
    [Abstract] [Full Text] [Related]

  • 22. Ichthyosis with confetti: clinics, molecular genetics and management.
    Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G.
    Orphanet J Rare Dis; 2015 Sep 17; 10():115. PubMed ID: 26381864
    [Abstract] [Full Text] [Related]

  • 23. 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 17; 33(4):e15072. PubMed ID: 38576105
    [Abstract] [Full Text] [Related]

  • 24. Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma.
    Virolainen E, Niemi KM, Gånemo A, Kere J, Vahlquist A, Saarialho-Kere U.
    Br J Dermatol; 2001 Sep 17; 145(3):480-3. PubMed ID: 11531841
    [Abstract] [Full Text] [Related]

  • 25. Cross-sectional nationwide epidemiologic survey on quality of life and treatment efficacy in Japanese patients with congenital ichthyoses.
    Suzuki Y, Tanahashi K, Terashima-Murase C, Takeichi T, Kobayashi Y, Kinoshita F, Akiyama M.
    J Dermatol Sci; 2024 Jan 17; 113(1):2-9. PubMed ID: 37953177
    [Abstract] [Full Text] [Related]

  • 26. Development of a disease severity score for newborns with collodion membrane.
    Rubio-Gomez GA, Weinstein M, Pope E.
    J Am Acad Dermatol; 2014 Mar 17; 70(3):506-11. PubMed ID: 24373778
    [Abstract] [Full Text] [Related]

  • 27. Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.
    Mallet S, Frankel D, Jonca N, Cano A, Roll P, Kaspi E.
    Int J Dermatol; 2024 Sep 17; 63(9):1269-1271. PubMed ID: 38581117
    [No Abstract] [Full Text] [Related]

  • 28. Autosomal recessive congenital ichthyoses (ARCI) in a "bathing-suit" distribution: progression over time.
    Arteaga-Henríquez M, Frommherz L, Fischer J, Has C.
    Int J Dermatol; 2021 Aug 17; 60(8):e296-e297. PubMed ID: 33846977
    [No Abstract] [Full Text] [Related]

  • 29. Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
    Shawky RM, Sayed NS, Elhawary NA.
    Dis Markers; 2004 Aug 17; 20(6):325-32. PubMed ID: 15665393
    [Abstract] [Full Text] [Related]

  • 30. 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 17; 51(1):101-105. PubMed ID: 37752865
    [Abstract] [Full Text] [Related]

  • 31. Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis.
    Murrell DF, Teng JMC, Guenthner S, Marathe K, Kempers S, Eads K, Castelo-Soccio L, Mendelsohn AM, Raiz J, Bunick CG.
    Clin Exp Dermatol; 2023 Jun 05; 48(6):623-630. PubMed ID: 36794376
    [Abstract] [Full Text] [Related]

  • 32. 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 05; 91(3):328-331. PubMed ID: 29887490
    [No Abstract] [Full Text] [Related]

  • 33. Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
    Khan N, Shah K, Fozia F, Khan SA, Muhammad N, Nasir A, Ahmad I, Rehman ZU, Jan A, Muhammad N, Khan S.
    Int J Dermatol; 2023 May 05; 62(5):672-680. PubMed ID: 36789964
    [Abstract] [Full Text] [Related]

  • 34. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
    Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RL, Muhammad D, Ali M, Zia M, Ayub M, Khan S, Smith JD, Nickerson DA, Shendure J, Bamshad M, Leal SM, Ahmad W.
    Int J Dermatol; 2016 May 05; 55(5):524-30. PubMed ID: 26578203
    [Abstract] [Full Text] [Related]

  • 35. Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup.
    Murase C, Takeichi T, Shibata A, Nakatochi M, Kinoshita F, Kubo A, Nakajima K, Ishii N, Amano H, Masuda K, Kawakami H, Kanekura T, Washio K, Asano M, Teramura K, Akasaka E, Tohyama M, Hatano Y, Ochiai T, Moriwaki S, Sato T, Ishida-Yamamoto A, Seishima M, Kurosawa M, Ikeda S, Akiyama M.
    J Dermatol Sci; 2018 Nov 05; 92(2):127-133. PubMed ID: 30241690
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. 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 02; 7(6):625-32. PubMed ID: 10482949
    [Abstract] [Full Text] [Related]

  • 38. Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit.
    Dias JV, Cardoso K, Prado SN, Cavaco H.
    BMJ Case Rep; 2023 Feb 28; 16(2):. PubMed ID: 36854483
    [Abstract] [Full Text] [Related]

  • 39. 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 28; 7(5):e608. PubMed ID: 30916489
    [Abstract] [Full Text] [Related]

  • 40. Family burden in inherited ichthyosis: creation of a specific questionnaire.
    Dufresne H, Hadj-Rabia S, Méni C, Sibaud V, Bodemer C, Taïeb C.
    Orphanet J Rare Dis; 2013 Feb 15; 8():28. PubMed ID: 23414570
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 11.