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Items: 1 to 20 of 96

1.
STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review
Joonhong Park, Yong Gon Cho, Jin Kyu Kim, Hyun Ho Kim
Genes (Basel) 2023 Oct; 14(10): 1925. Published online 2023 Oct 10. doi: 10.3390/genes14101925
PMCID:
PMC10606178
ArticlePDF–2.0M
2.
RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis
Farrell McGeoghan, Emanuela Camera, Miriam Maiellaro, Manasi Menon, Mei Huang, Priya Dewan, Stela Ziaj, Matthew P. Caley, Michael Donaldson, Anton J. Enright, Edel A. O’Toole
Front Mol Biosci. 2023; 10: 1176802. Published online 2023 Jun 7. doi: 10.3389/fmolb.2023.1176802
PMCID:
PMC10285781
ArticlePDF–2.6M
3.
Identification of a novel partial deletion of STS associated with pre-Descemet corneal dystrophy and X-linked ichthyosis
Dominic Williams, Onyinye Onyia, Doug D. Chung, Artak Kirakosyan, Anna Hovakimyan, Carter Payne, Majid Moshirfar, Anthony J. Aldave
Mol Vis. 2023; 29: 25–30. Published online 2023 Apr 29.
PMCID:
PMC10243677
ArticlePDF–1.3M
4.
Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
Tatyana A. Vasilyeva, Andrey V. Marakhonov, Inna S. Tebieva, Vitaly V. Kadyshev, Artem O. Borovikov, Zhanna G. Markova, Alyona L. Chukhrova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Int J Mol Sci. 2023 Mar; 24(5): 4515. Published online 2023 Feb 24. doi: 10.3390/ijms24054515
PMCID:
PMC10003119
ArticlePDF–31M
5.
STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity
Ivo F. Nagtzaam, Frank S. van Leersum, Laurie C.M. Kouwenberg, Marinus J. Blok, Maaike Vreeburg, Peter M. Steijlen, Antoni Gostyński, Michel van Geel
Br J Dermatol. 2022 Nov; 187(5): 820–822. Published online 2022 Aug 11. doi: 10.1111/bjd.21775
PMCID:
PMC9804759
ArticlePDF–853K
6.
X‐linked ichthyosis: New insights into a multi‐system disorder
Georgina H. Wren, William Davies
Skin Health Dis. 2022 Dec; 2(4): e179. Published online 2022 Oct 17. doi: 10.1002/ski2.179
PMCID:
PMC9720199
ArticlePDF–700K
7.
Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis
Xinxin Tang, Zhiwei Wang, Shuting Yang, Min Chen, Yue Zhang, Fang Zhang, Juan Tan, Ting Yin, Leilei Wang
Front Genet. 2022; 13: 934952. Published online 2022 Aug 31. doi: 10.3389/fgene.2022.934952
PMCID:
PMC9471005
ArticlePDF–1.1M
8.
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
Hamza Chouk, Sarra Saad, Sarra Dimassi, Nadia Ghariani Fetoui, Ayda Bennour, Rima Gammoudi, Haifa Elmabrouk, Ali Saad, Mohamed Denguezli, Dorra H’mida
BMC Med Genomics. 2022; 15: 165. Published online 2022 Jul 26. doi: 10.1186/s12920-022-01319-4
PMCID:
PMC9317125
ArticlePDF–2.0M
9.
Mood symptoms, neurodevelopmental traits, and their contributory factors in X‐linked ichthyosis, ichthyosis vulgaris and psoriasis
Georgina H. Wren, Trevor Humby, Andrew R. Thompson, William Davies
Clin Exp Dermatol. 2022 Jun; 47(6): 1097–1108. Published online 2022 Mar 4. doi: 10.1111/ced.15116
PMCID:
PMC9314151
ArticlePDF–828K
10.
Kallmann Syndrome and X-linked Ichthyosis Caused by Translocation Between Chromosomes X and Y: A Case Report
Haseena Sait, Priyanka Srivastava, Preeti Dabadghao, Shubha R Phadke
J Reprod Infertil. 2021 Oct-Dec; 22(4): 302–306. doi: 10.18502/jri.v22i4.7657
PMCID:
PMC8669406
ArticlePDF–349K
11.
Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression
Jennifer Brault, Laurence Walsh, Gail H. Vance, David D. Weaver
J Pediatr Genet. 2021 Sep; 10(3): 222–229. Published online 2020 Aug 20. doi: 10.1055/s-0040-1715573
PMCID:
PMC8416204
ArticlePDF–413K
12.
Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta
Pei Jin Lim, Severin Marfurt, Uschi Lindert, Lennart Opitz, Timothée Ndarugendamwo, Pakeerathan Srikanthan, Martin Poms, Martin Hersberger, Claus-Dieter Langhans, Dorothea Haas, Marianne Rohrbach, Cecilia Giunta
Front Genet. 2021; 12: 662751. Published online 2021 May 21. doi: 10.3389/fgene.2021.662751
PMCID:
PMC8176293
ArticlePDF–6.4M
13.
Clinical features and genetic analysis of two Chinese families with X-linked ichthyosis
Wanqin Xie, Haiyan Zhou, Lin Zhou, Yun Gong, Jiwu Lin, Yong Chen
J Int Med Res. 2020 Oct; 48(10): 0300060520962292. Published online 2020 Oct 7. doi: 10.1177/0300060520962292
PMCID:
PMC7545777
ArticlePDF–861K
14.
Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
Lucija Brcic, Jack FG Underwood, Kimberley M Kendall, Xavier Caseras, George Kirov, William Davies
J Med Genet. 2020 Oct; 57(10): 692–698. Published online 2020 Mar 5. doi: 10.1136/jmedgenet-2019-106676
PMCID:
PMC7525778
ArticlePDF–446K
15.
1个X-连锁鱼鳞病家系的基因突变鉴定与产前诊断
黄 际卫, 唐 宁, 李 伍高, 李 哲涛, 罗 世强, 李 静文, 黄 钧, 严 提珍
Zhongguo Dang Dai Er Ke Za Zhi. 2016 Nov 15; 18(11): 1136–1140. Chinese. doi: 10.7499/j.issn.1008-8830.2016.11.016
PMCID:
PMC7389852
ArticlePDF–1.8M
16.
X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations
Min Zhang, Hailong Huang, Na Lin, Shuqiong He, Gang An, Yan Wang, Meihuan Chen, Lingji Chen, Yuan Lin, Liangpu Xu
J Clin Lab Anal. 2020 May; 34(5): e23201. Published online 2020 Jan 16. doi: 10.1002/jcla.23201
PMCID:
PMC7246362
ArticlePDF–839K
17.
Is X-linked Recessive Ichthyosis a High Risk for Basal Cell Carcinoma?
Keiko Wakumoto, Yuichi Yoshida, Osamu Yamamoto
Yonago Acta Med. 2020 Feb; 63(1): 92–94. Published online 2020 Feb 20. doi: 10.33160/yam.2020.02.012
PMCID:
PMC7028536
ArticlePDF–1.3M
18.
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
Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit, Ahmed Bilal Waqar
BMC Med Genet. 2020; 21: 20. Published online 2020 Jan 31. doi: 10.1186/s12881-020-0964-y
PMCID:
PMC6995215
ArticlePDF–5.2M
19.
Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis
Alice Cavenagh, Sohini Chatterjee, William Davies
PLoS One. 2019; 14(2): e0212330. Published online 2019 Feb 15. doi: 10.1371/journal.pone.0212330
PMCID:
PMC6377116
ArticlePDF–556K
20.
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
Amna Malik, Ahmed Bait Amer, Mohammed Salama, Bander Haddad, Muhammad T. Alrifai, Mohammed Al Balwi, William Davies, Wafaa Eyaid
J Med Case Rep. 2017; 11: 267. Published online 2017 Sep 22. doi: 10.1186/s13256-017-1420-2
PMCID:
PMC5609014
ArticlePDF–319K

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