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Items: 1 to 20 of 99

1.
Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Georgina Wren, Emily Baker, Jack Underwood, Trevor Humby, Andrew Thompson, George Kirov, Valentina Escott-Price, William Davies
J Med Genet. 2023 Jul; 60(7): 636–643. Published online 2022 Nov 15. doi: 10.1136/jmg-2022-108862
PMCID:
PMC10359567
ArticlePDF–783K
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.
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana Beatriz Alvarez Perez, David Valle, Elizabeth Wohler, Nara Lygia de Macena Sobreira, Salmo Raskin
Rev Paul Pediatr. 2023; 41: e2022057. Published online 2023 Apr 7. doi: 10.1590/1984-0462/2023/41/2022057
PMCID:
PMC10108828
ArticlePDF–387K
4.
Dermatoskopie von Genodermatosen
Dóra Plázár, Marie Isolde Joura, Norbert Kiss, Márta Medvecz
Dermatologie (Heidelb) 2023; 74(4): 256–261. German. Published online 2023 Mar 7. doi: 10.1007/s00105-023-05124-7
PMCID:
PMC10050017
ArticlePDF–1.9M
5.
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
6.
Multiplex Proteomic Evaluation in Inborn Errors with Deregulated IgE Response
Enrico Scala, Stefania Madonna, Daniele Castiglia, Alessandro Scala, Elisabetta Caprini, Roberto Paganelli
Biomedicines. 2023 Jan; 11(1): 202. Published online 2023 Jan 13. doi: 10.3390/biomedicines11010202
PMCID:
PMC9855860
ArticlePDF–4.1M
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.
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
9.
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
Alanna Strong, Michael E. March, Christopher J. Cardinale, Sophia E. Kim, Jamie Merves, Hilary Whitworth, Leslie Raffini, Christopher Larosa, Lawrence Copelovitch, Cuiping Hou, Diana Slater, Courtney Vaccaro, Deborah Watson, Elaine H. Zackai, Jeffrey Billheimer, Hakon Hakonarson
Am J Med Genet A. 2022 Feb; 188(2): 463–472. Published online 2021 Oct 15. doi: 10.1002/ajmg.a.62537
PMCID:
PMC9293288
ArticlePDF–2.1M
10.
Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Jouni UITTO, Leila YOUSSEFIAN, Amir Hossein SAEIDIAN, Hassan VAHIDNEZHAD
Acta Derm Venereol. 2020; 100(7): 5691. Published online 2020 Mar 25. doi: 10.2340/00015555-3431
PMCID:
PMC9128965
ArticlePDF–15M
11.
A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
Jun-Oh Shin, Dongyoung Roh, Kihyuk Shin, Woo-Il Kim, Min-Young Yang, Won-Ku Lee, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Ann Dermatol. 2022 Feb; 34(1): 59–62. Published online 2022 Jan 27. doi: 10.5021/ad.2022.34.1.59
PMCID:
PMC8831308
ArticlePDF–18M
12.
A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement
Ene‐Choo Tan, Shi Yun Chia, Khadijah Rafi’ee, Shan Xian Lee, Andrew Boon Eu Kwek, Sze Hwa Tan, Victor Weng Leong Ng, Heming Wei, Stephanie Koo, Ai Ling Koh, Mark Jean‐Aan Koh
Mol Genet Genomic Med. 2022 Jan; 10(1): e1848. Published online 2021 Dec 26. doi: 10.1002/mgg3.1848
PMCID:
PMC8801147
ArticlePDF–1.4M
13.
Steroid sulfatase deficiency causes cellular senescence and abnormal differentiation by inducing Yippee-like 3 expression in human keratinocytes
Hyoung-Seok Baek, Tae-Uk Kwon, Sangyun Shin, Yeo-Jung Kwon, Young-Jin Chun
Sci Rep. 2021; 11: 20867. Published online 2021 Oct 21. doi: 10.1038/s41598-021-00051-w
PMCID:
PMC8531280
ArticlePDF–6.8M
14.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
Laura A. Adang, Lars Schlotawa, Samuel Groeschel, Christiane Kehrer, Klaus Harzer, Orna Staretz‐Chacham, Thiago Oliveira Silva, Ida Vanessa D. Schwartz, Jutta Gärtner, Mauricio De Castro, Carrie Costin, Esperanza Font Montgomery, Thomas Dierks, Karthikeyan Radhakrishnan, Rebecca C. Ahrens‐Nicklas
J Inherit Metab Dis. 2020 Nov; 43(6): 1298–1309. Published online 2020 Aug 20. doi: 10.1002/jimd.12298
PMCID:
PMC7693296
ArticlePDF–1.6M
15.
Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank
Samuel J A Gubb, Lucija Brcic, Jack F G Underwood, Kimberley M Kendall, Xavier Caseras, George Kirov, William Davies
Hum Mol Genet. 2020 Sep 1; 29(17): 2872–2881. Published online 2020 Aug 7. doi: 10.1093/hmg/ddaa174
PMCID:
PMC7566349
ArticlePDF–140K
16.
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
17.
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
18.
Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report
D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake
BMC Med Genet. 2020; 21: 164. Published online 2020 Aug 20. doi: 10.1186/s12881-020-01094-y
PMCID:
PMC7439548
ArticlePDF–1.8M
19.
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
20.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Mingyang Lee, Nicole Cesarato, Fanny Kortüm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothea Bornholdt, Peter M. Kroisel, Gianluca Tadini, Scott D. Walter, Fabian Hauck, Katta M. Girisha, Anne-Marie Calza, Armand Bottani, Janine Altmüller, Andreas Buness, Shuxia Yang, Xiujuan Sun, Lin Ma, Kerstin Kutsche, Karl-Heinz Grzeschik, Regina C. Betz, Zhimiao Lin
Am J Hum Genet. 2020 Jul 2; 107(1): 34–45. Published online 2020 Jun 3. doi: 10.1016/j.ajhg.2020.05.006
PMCID:
PMC7332643
ArticlePDF–1.8M

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