164 related articles for article (PubMed ID: 27817780)
1. [Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].
Huang JW; Tang N; Li WG; Li ZT; Luo SQ; Li JW; Huang J; Yan TZ
Zhongguo Dang Dai Er Ke Za Zhi; 2016 Nov; 18(11):1136-1140. PubMed ID: 27817780
[TBL] [Abstract][Full Text] [Related]
2.
Park J; Cho YG; Kim JK; Kim HH
Genes (Basel); 2023 Oct; 14(10):. PubMed ID: 37895274
[TBL] [Abstract][Full Text] [Related]
3. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.
Afzal S; Ramzan K; Ullah S; Wakil SM; Jamal A; Basit S; Waqar AB
BMC Med Genet; 2020 Jan; 21(1):20. PubMed ID: 32005174
[TBL] [Abstract][Full Text] [Related]
4. [Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family].
Zhu HY; Li HB; Wu LQ; Zhu XY; Li J; Yang Y; Zhu RF; Wu X; Duan HL; Zhang Y; Hu YL
Zhonghua Yi Xue Za Zhi; 2008 Dec; 88(46):3246-9. PubMed ID: 19159546
[TBL] [Abstract][Full Text] [Related]
5. X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.
Zhang M; Huang H; Lin N; He S; An G; Wang Y; Chen M; Chen L; Lin Y; Xu L
J Clin Lab Anal; 2020 May; 34(5):e23201. PubMed ID: 31944387
[TBL] [Abstract][Full Text] [Related]
6. Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: a case of X-linked ichthyosis.
Watanabe T; Fujimori K; Kato K; Nomura Y; Onogi S; Sato A
J Obstet Gynaecol Res; 2003 Dec; 29(6):427-30. PubMed ID: 14641695
[TBL] [Abstract][Full Text] [Related]
7. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
Ben Khelifa H; Soyah N; Ben-Abdallah-Bouhjar I; Gritly R; Sanlaville D; Elghezal H; Saad A; Mougou-Zerelli S
Gene; 2013 Sep; 527(2):578-83. PubMed ID: 23791652
[TBL] [Abstract][Full Text] [Related]
8. The detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis.
Abdel-Hamed MF; Hussein HA; Helmy NA; Elsaie ML
J Drugs Dermatol; 2010 Oct; 9(10):1192-6. PubMed ID: 20941942
[TBL] [Abstract][Full Text] [Related]
9. STS gene in a pedigree with X-linked ichthyosis.
Liu A; Xiao S; Tan S; Lei X; Zhang J; Jiao T; Liu Y
J Huazhong Univ Sci Technolog Med Sci; 2005; 25(4):468-9. PubMed ID: 16196306
[TBL] [Abstract][Full Text] [Related]
10. Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.
Ramesh R; Chen H; Kukula A; Wakeling EL; Rustin MH; McLean WH
J Dermatol Sci; 2011 Dec; 64(3):159-62. PubMed ID: 21945601
[TBL] [Abstract][Full Text] [Related]
11. X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.
Bai J; Qu Y; Cao Y; Li Y; Zhang W; Jin Y; Wang H; Song F
Mol Med Rep; 2016 Feb; 13(2):1135-40. PubMed ID: 26676689
[TBL] [Abstract][Full Text] [Related]
12. Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome.
Zhang Q; Si N; Liu Y; Zhang D; Wang R; Zhang Y; Wang S; Liu X; Deng X; Ma Y; Ge P; Zhao J; Zhang X
Gene; 2017 Sep; 628():103-108. PubMed ID: 28710038
[TBL] [Abstract][Full Text] [Related]
13. [Investigation of steroid sulfatase gene in two pedigrees with X-linked ichthyosis].
Liu A; Xiao SX; Tan SS; Jiao T; Liu Y; Li XL; Zhou SN
Di Yi Jun Yi Da Xue Xue Bao; 2005 Aug; 25(8):1023-5. PubMed ID: 16109567
[TBL] [Abstract][Full Text] [Related]
14. The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.
Hand JL; Runke CK; Hodge JC
J Am Acad Dermatol; 2015 Apr; 72(4):617-27. PubMed ID: 25659225
[TBL] [Abstract][Full Text] [Related]
15. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.
Kent L; Emerton J; Bhadravathi V; Weisblatt E; Pasco G; Willatt LR; McMahon R; Yates JR
J Med Genet; 2008 Aug; 45(8):519-24. PubMed ID: 18413370
[TBL] [Abstract][Full Text] [Related]
16. A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis.
Morita E; Katoh O; Shinoda S; Hiragun T; Tanaka T; Kameyoshi Y; Yamamoto S
J Invest Dermatol; 1997 Aug; 109(2):244-5. PubMed ID: 9242515
[TBL] [Abstract][Full Text] [Related]
17. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques.
Aviram-Goldring A; Goldman B; Netanelov-Shapira I; Chen-Shtoyerman R; Zvulunov A; Tal O; Ilan T; Peleg L
Int J Dermatol; 2000 Mar; 39(3):182-7. PubMed ID: 10759956
[TBL] [Abstract][Full Text] [Related]
18. Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis.
Valdes-Flores M; Kofman-Alfaro SH; Jimenez-Vaca AL; Cuevas-Covarrubias SA
Am J Med Genet; 2001 Aug; 102(2):146-8. PubMed ID: 11477606
[TBL] [Abstract][Full Text] [Related]
19. Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series.
Rodrigo-Nicolás B; Bueno-Martínez E; Martín-Santiago A; Cañueto J; Vicente A; Torrelo A; Noguera-Morel L; Duat-Rodríguez A; Jorge-Finnigan C; Palacios-Álvarez I; García-Hernández JL; Sebaratnam DF; González-Sarmiento R; Hernández-Martín A
Br J Dermatol; 2018 Oct; 179(4):933-939. PubMed ID: 29901853
[TBL] [Abstract][Full Text] [Related]
20. X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.
Diociaiuti A; Angioni A; Pisaneschi E; Alesi V; Zambruno G; Novelli A; El Hachem M
Exp Dermatol; 2019 Oct; 28(10):1156-1163. PubMed ID: 29672931
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
