285 related articles for article (PubMed ID: 9545389)
1. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.
Hennies HC; Küster W; Wiebe V; Krebsová A; Reis A
Am J Hum Genet; 1998 May; 62(5):1052-61. PubMed ID: 9545389
[TBL] [Abstract][Full Text] [Related]
2. Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.
Hennies HC; Raghunath M; Wiebe V; Vogel M; Velten F; Traupe H; Reis A
Hum Genet; 1998 Mar; 102(3):314-8. PubMed ID: 9544844
[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. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.
Russell LJ; DiGiovanna JJ; Rogers GR; Steinert PM; Hashem N; Compton JG; Bale SJ
Nat Genet; 1995 Mar; 9(3):279-83. PubMed ID: 7773290
[TBL] [Abstract][Full Text] [Related]
5. Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.
Parmentier L; Lakhdar H; Blanchet-Bardon C; Marchand S; Dubertret L; Weissenbach J
Hum Mol Genet; 1996 Apr; 5(4):555-9. PubMed ID: 8845852
[TBL] [Abstract][Full Text] [Related]
6. Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.
Parmentier L; Blanchet-Bardon C; Nguyen S; Prud'homme JF; Dubertret L; Weissenbach J
Hum Mol Genet; 1995 Aug; 4(8):1391-5. PubMed ID: 7581379
[TBL] [Abstract][Full Text] [Related]
7. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
Laiho E; Ignatius J; Mikkola H; Yee VC; Teller DC; Niemi KM; Saarialho-Kere U; Kere J; Palotie A
Am J Hum Genet; 1997 Sep; 61(3):529-38. PubMed ID: 9326318
[TBL] [Abstract][Full Text] [Related]
8. Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.
Takeda M; Nomura T; Sugiyama T; Miyauchi T; Suzuki S; Fujita Y; Shimizu H
J Dermatol; 2018 Dec; 45(12):1463-1467. PubMed ID: 30302839
[TBL] [Abstract][Full Text] [Related]
9. New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis.
Cao X; Lin Z; Yang H; Bu D; Tu P; Chen L; Wu H; Yang Y
Clin Exp Dermatol; 2009 Dec; 34(8):904-9. PubMed ID: 19486042
[TBL] [Abstract][Full Text] [Related]
10. Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.
Fachal L; Rodríguez-Pazos L; Ginarte M; Beiras A; Suárez-Peñaranda JM; Toribio J; Carracedo Á; Vega A
Int J Dermatol; 2012 Apr; 51(4):427-30. PubMed ID: 22435431
[TBL] [Abstract][Full Text] [Related]
11. Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Diociaiuti A; Corbeddu M; Rossi S; Pisaneschi E; Cesario C; Condorelli AG; Samela T; Giancristoforo S; Angioni A; Zambruno G; Novelli A; Alaggio R; Abeni D; El Hachem M
Dermatology; 2024; 240(3):397-413. PubMed ID: 38588653
[TBL] [Abstract][Full Text] [Related]
12. Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
Macriz-Romero N; Vera-Duarte GR; Guerrero-Becerril J; Chacón-Camacho OF; Astiazarán MC; Zenteno JC; Graue-Hernandez EO
Int Ophthalmol; 2023 Oct; 43(10):3659-3665. PubMed ID: 37542530
[TBL] [Abstract][Full Text] [Related]
13. A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype.
Akiyama M; Takizawa Y; Suzuki Y; Shimizu H
Br J Dermatol; 2003 Jan; 148(1):149-53. PubMed ID: 12534611
[TBL] [Abstract][Full Text] [Related]
14. 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; 55(5):524-30. PubMed ID: 26578203
[TBL] [Abstract][Full Text] [Related]
15. 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; 7(6):625-32. PubMed ID: 10482949
[TBL] [Abstract][Full Text] [Related]
16. Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.
Pigg M; Gedde-Dahl T; Cox DW; Haugen G; Dahl N
Prenat Diagn; 2000 Feb; 20(2):132-7. PubMed ID: 10694685
[TBL] [Abstract][Full Text] [Related]
17. Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.
Cserhalmi-Friedman PB; Milstone LM; Christiano AM
Br J Dermatol; 2001 Apr; 144(4):726-30. PubMed ID: 11298529
[TBL] [Abstract][Full Text] [Related]
18. 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]
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-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; 182(3):729-737. PubMed ID: 31168818
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
