140 related articles for article (PubMed ID: 34379964)
1. Pseudodominant inheritance of self-improving collodion ichthyosis with homozygous mutation in the ALOX12B gene.
Srinivas SM; Dhar S; Gowdra A
Indian J Dermatol Venereol Leprol; 2021; 87(5):714-717. PubMed ID: 34379964
[No Abstract] [Full Text] [Related]
2. 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]
3. A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B.
Bland PJ; Chronnell C; Plagnol V; Kayserili H; Kelsell DP
Br J Dermatol; 2015 Jul; 173(1):285-7. PubMed ID: 25524567
[No Abstract] [Full Text] [Related]
4. Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
Akiyama M; Sakai K; Yanagi T; Tabata N; Yamada M; Shimizu H
Br J Dermatol; 2010 Jul; 163(1):201-4. PubMed ID: 20222929
[TBL] [Abstract][Full Text] [Related]
5. Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.
Mae K; Kawakami Y; Kajita A; Takeichi T; Noda T; Hirai Y; Akiyama M; Morizane S
J Dermatol; 2023 Jan; 50(1):e37-e38. PubMed ID: 36258281
[No Abstract] [Full Text] [Related]
6. 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]
7. A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.
Ashoor G; Massé M; García Luciano LM; Sheffer R; Martinez-Mir A; Christiano AM; Zlotogorski A
Br J Dermatol; 2006 Jul; 155(1):198-200. PubMed ID: 16792775
[No Abstract] [Full Text] [Related]
8. A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.
Moran JL; Qiu H; Turbe-Doan A; Yun Y; Boeglin WE; Brash AR; Beier DR
J Invest Dermatol; 2007 Aug; 127(8):1893-7. PubMed ID: 17429434
[TBL] [Abstract][Full Text] [Related]
9. 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; 165(4):906-11. PubMed ID: 21668430
[TBL] [Abstract][Full Text] [Related]
10. 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; 33(2):e48-51. PubMed ID: 26646773
[TBL] [Abstract][Full Text] [Related]
11. A case of self-improving collodion ichthyosis associated with a rare variant of the ALOX12B gene.
Amoedo P; Cerejeira A; Pacheco J; Cruz MJ; Mota A
Dermatol Online J; 2023 Feb; 29(1):. PubMed ID: 37040911
[TBL] [Abstract][Full Text] [Related]
12. [Establishing the aetiological diagnosis of congenital ichthyosis].
Mazereeuw-Hautier J; Bodemer C;
Ann Dermatol Venereol; 2009 Dec; 136(12):916-22; quiz 915, 935. PubMed ID: 20004323
[No Abstract] [Full Text] [Related]
13. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Eckl KM; de Juanes S; Kurtenbach J; Nätebus M; Lugassy J; Oji V; Traupe H; Preil ML; Martínez F; Smolle J; Harel A; Krieg P; Sprecher E; Hennies HC
J Invest Dermatol; 2009 Jun; 129(6):1421-8. PubMed ID: 19131948
[TBL] [Abstract][Full Text] [Related]
14. Molecular genetics as a diagnostic and prognostic aid in the assessment of neonates with red, scaly genodermatoses: work still in progress.
Clements SE; McGrath JA
Arch Dermatol; 2008 Mar; 144(3):387-8. PubMed ID: 18347296
[No Abstract] [Full Text] [Related]
15. [27-Year-Old Patient with Scaly Skin].
Schiebelhut A; Wenzel J
Dtsch Med Wochenschr; 2019 Aug; 144(15):1067-1068. PubMed ID: 31350750
[No Abstract] [Full Text] [Related]
16. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
Vahlquist A; Bygum A; Gånemo A; Virtanen M; Hellström-Pigg M; Strauss G; Brandrup F; Fischer J
J Invest Dermatol; 2010 Feb; 130(2):438-43. PubMed ID: 19890349
[TBL] [Abstract][Full Text] [Related]
17. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Eckl KM; Krieg P; Küster W; Traupe H; André F; Wittstruck N; Fürstenberger G; Hennies HC
Hum Mutat; 2005 Oct; 26(4):351-61. PubMed ID: 16116617
[TBL] [Abstract][Full Text] [Related]
18. Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene.
Santesteban Muruzábal R; Larumbe Irurzun A; Yanguas Bayona I; Ramos Arroyo MA
Actas Dermosifiliogr; 2016 Jun; 107(5):433-5. PubMed ID: 26922124
[No Abstract] [Full Text] [Related]
19. 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]
20. Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.
Matsumoto K; Muto M; Seki S; Saida T; Horiuchi N; Takahashi H; Ishida-Yamamoto A; Iizuka H
Br J Dermatol; 2001 Oct; 145(4):657-60. PubMed ID: 11703298
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
