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 *

149 related articles for article (PubMed ID: 38061711)

  • 1. Novel Compound Heterozygous Mutations of
    Gülnerman EK; Hanedan N; Akillioglu M; Kayhan G; Adişen E; Erdem Ö; Hirfanoğlu İM; Ergenekon E; Önal EE; Türkyilmaz C; Koç E
    Ann Dermatol; 2023 Nov; 35(Suppl 2):S234-S238. PubMed ID: 38061711
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis.
    Bourrat E; Blanchet-Bardon C; Derbois C; Cure S; Fischer J
    Arch Dermatol; 2012 Oct; 148(10):1191-5. PubMed ID: 22801880
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
    Marukian NV; Hu RH; Craiglow BG; Milstone LM; Zhou J; Theos A; Kaymakcalan H; Akkaya DA; Uitto JJ; Vahidnezhad H; Youssefian L; Bayliss SJ; Paller AS; Boyden LM; Choate KA
    JAMA Dermatol; 2017 Jun; 153(6):537-543. PubMed ID: 28403434
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

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

  • 6. 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]  

  • 7. Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.
    Wang T; Xu C; Zhou X; Li C; Zhang H; Lian BQ; Lee JJ; Shen J; Liu Y; Lian CG
    Int J Mol Sci; 2015 Sep; 16(9):21791-801. PubMed ID: 26370990
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients.
    Sathishkumar D; Peter D; Pulimood S; Wiegmann H; Valentin F; Thomas M; Hennies HC; Oji V
    Case Rep Dermatol Med; 2018; 2018():3140473. PubMed ID: 30693114
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child.
    Benmously-Mlika R; Zaouak A; Mrad R; Laaroussi N; Abdelhak S; Hovnanian A; Mokhtar I
    Int J Dermatol; 2014 Dec; 53(12):1478-80. PubMed ID: 25209454
    [TBL] [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; 37(1):165-170. PubMed ID: 31631373
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Collodion Baby with TGM1 gene mutation.
    Sharma D; Gupta B; Shastri S; Pandita A; Pawar S
    Int Med Case Rep J; 2015; 8():205-8. PubMed ID: 26451124
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Exome Analysis Identifies a Novel Compound Heterozygous Alteration in
    Alallasi SR; Kokandi AA; Banagnapali B; Shaik NA; Al-Shehri BA; Alrayes NM; Al-Aama JY; Jelani M
    Front Pediatr; 2019; 7():44. PubMed ID: 30847336
    [No Abstract]   [Full Text] [Related]  

  • 15. Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
    Liu JJ; Yuan YY; Zhang XQ; Li ZM; Xu YS; Gao SM; Cai JF; Shao XH; Lin XH; Li BX
    Clin Exp Dermatol; 2015 Jan; 40(1):56-62. PubMed ID: 25154629
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
    Harting M; Brunetti-Pierri N; Chan CS; Kirby J; Dishop MK; Richard G; Scaglia F; Yan AC; Levy ML
    Arch Dermatol; 2008 Mar; 144(3):351-6. PubMed ID: 18347291
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma.
    Haftek M; Cambazard F; Dhouailly D; Réano A; Simon M; Lachaux A; Serre G; Claudy A; Schmitt D
    Br J Dermatol; 1996 Sep; 135(3):448-53. PubMed ID: 8949442
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
    Farasat S; Wei MH; Herman M; Liewehr DJ; Steinberg SM; Bale SJ; Fleckman P; Toro JR
    J Med Genet; 2009 Feb; 46(2):103-11. PubMed ID: 18948357
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.