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Items: 1 to 20 of 500

1.
Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations
Moni Thakur
J Oral Maxillofac Pathol. 2019 Feb; 23(Suppl 1): 130–133. doi: 10.4103/jomfp.JOMFP_309_18
PMCID:
PMC6421925
ArticlePubReaderPDF–1.1MCite
2.
Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report
Divya Vupperla, Snehal Balvant Lunge, Praveen Elaprolu
Indian J Dermatol. 2018 Mar-Apr; 63(2): 176–179. doi: 10.4103/ijd.IJD_434_17
PMCID:
PMC5903051
ArticlePubReaderCite
3.
Targeted ablation of the vitamin D receptor: An animal model of vitamin D-dependent rickets type II with alopecia
Yan Chun Li, Alison E. Pirro, Michael Amling, Gunter Delling, Roland Baron, Roderick Bronson, Marie B. Demay
Proc Natl Acad Sci U S A. 1997 Sep 2; 94(18): 9831–9835. doi: 10.1073/pnas.94.18.9831
PMCID:
PMC23277
ArticlePubReaderPDF–567KCite
4.
Genetic Causes of Rickets
Sezer Acar, Korcan Demir, Yufei Shi
J Clin Res Pediatr Endocrinol. 2017 Dec; 9(Suppl 2): 88–105. Published online 2017 Dec 30. doi: 10.4274/jcrpe.2017.S008
PMCID:
PMC5790329
ArticlePubReaderPDF–413KCite
5.
Alopecia Areata: A Complex Cytokine Driven Disease
Teresa Song, Emma Guttman-Yassky
J Investig Dermatol Symp Proc. Author manuscript; available in PMC 2023 Nov 22.
Published in final edited form as: J Investig Dermatol Symp Proc. 2020 Nov; 20(1): S55–S57. doi: 10.1016/j.jisp.2020.04.007
PMCID:
PMC10664751
ArticlePubReaderPDF–295KCite
6.
Genetically predicted levels of circulating cytokines and the risk of six immune skin diseases: a two-sample Mendelian randomization study
Qinghua Luo, Qiurui Cao, Jinyan Guo, Shuangqing Chang, Yunxiang Wu
Front Immunol. 2023; 14: 1240714. Published online 2023 Oct 26. doi: 10.3389/fimmu.2023.1240714
PMCID:
PMC10637377
ArticlePubReaderPDF–6.3MCite
7.
Exome Sequencing in Monogenic Forms of Rickets
Prince Jacob, Gandham SriLakshmi Bhavani, Prajna Udupa, Zheng Wang, Sankar V. Hariharan, Kishan Delampady, Ashwin Dalal, Nutan Kamath, Shiro Ikegawa, Rathika D. Shenoy, Koushik Handattu, Hitesh Shah, Katta M. Girisha
Indian J Pediatr. 2023; 90(12): 1182–1190. Published online 2023 Jan 24. doi: 10.1007/s12098-022-04393-9
PMCID:
PMC10627992
ArticlePubReaderPDF–1.0MCite
8.
Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector
Satoko Kise, Ayano Iijima, Chika Nagao, Tadashi Okada, Miyu Nishikawa, Shinichi Ikushiro, Tomoko Nakanishi, Shigeto Sato, Kaori Yasuda, Toshiyuki Sakaki
Sci Rep. 2023; 13: 18528. Published online 2023 Oct 28. doi: 10.1038/s41598-023-45594-2
PMCID:
PMC10613246
ArticlePubReaderPDF–2.2MCite
9.
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan
Genet Res (Camb) 2023; 2023: 9999660. Published online 2023 Oct 4. doi: 10.1155/2023/9999660
PMCID:
PMC10567209
ArticlePubReaderPDF–1.3MCite
10.
X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature
Shadan Jabbar Abdullah, Taha Othman Mahwi, Areewan Mohamad Salih Saeed, Darya Saeed Abdulateef, Heshu Sulaiman Rahman, Shaho Fatah Ahmed, Sarkan Ahmed Abdulqader
Horm Metab Res. 2023 Oct; 55(10): 653–664. Published online 2023 Oct 9. doi: 10.1055/a-2159-8429
PMCID:
PMC10562047
ArticlePubReaderPDF–627KCite
11.
Uncovering the complex relationship between balding, testosterone and skin cancers in men
Jue-Sheng Ong, Mathias Seviiri, Jean Claude Dusingize, Yeda Wu, Xikun Han, Jianxin Shi, Catherine M. Olsen, Rachel E. Neale, John F. Thompson, Robyn P. M. Saw, Kerwin F. Shannon, Graham J. Mann, Nicholas G. Martin, Sarah E. Medland, Scott D. Gordon, Richard A. Scolyer, Georgina V. Long, Mark M. Iles, Maria Teresa Landi, David C. Whiteman, Stuart MacGregor, Matthew H. Law
Nat Commun. 2023; 14: 5962. Published online 2023 Oct 3. doi: 10.1038/s41467-023-41231-8
PMCID:
PMC10547720
ArticlePubReaderPDF–1.9MCite
12.
Impaired 1,25-dihydroxyvitamin D3 action underlies enthesopathy development in the Hyp mouse model of X-linked hypophosphatemia
Rakshya Rana, Jiana T. Baker, Melissa Sorsby, Supriya Jagga, Shreya Venkat, Shaza Almardini, Eva S. Liu
JCI Insight. 2023 Sep 8; 8(17): e163259. Published online 2023 Sep 8. doi: 10.1172/jci.insight.163259
PMCID:
PMC10544216
ArticlePubReaderPDF–35MCite
13.
Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil
Carolina Aguiar Moreira, Tatiana M. R. Lemos Costa, Julia Vieira Oberger Marques, Lucimary Sylvestre, Ana Cristina R. Almeida, Eliane M. C. P. Maluf, Victória Z. C. Borba
Arch Endocrinol Metab. 2020 Nov-Dec; 64(6): 796–802. Published online 2020 Oct 9. doi: 10.20945/2359-3997000000296
PMCID:
PMC10528612
ArticlePubReaderPDF–228KCite
14.
Phenotypic and Endotypic Determinants of Atopic Dermatitis Severity from the ADRN Registry
Eric L. Simpson, Anna De Benedetto, Mark Boguniewicz, Peck Y. Ong, Stephanie Lussier, Miguel Villarreal, Lynda C. Schneider, Amy S. Paller, Emma Guttman-Yassky, Jon M. Hanifin, Jonathan M. Spergel, Kathleen C. Barnes, Gloria David, Briahnna Austin, Donald Y.M. Leung, Lisa A. Beck
J Allergy Clin Immunol Pract. Author manuscript; available in PMC 2023 Sep 27.
Published in final edited form as: J Allergy Clin Immunol Pract. 2023 Aug; 11(8): 2504–2515. Published online 2023 May 12. doi: 10.1016/j.jaip.2023.04.052
PMCID:
PMC10524351
ArticlePubReaderPDF–1.0MCite
15.
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, M. Zulf Mughal, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, Jonathan Liu, Angela Williams, Sue Wood, M. Carola Zillikens
Orphanet J Rare Dis. 2023; 18: 304. Published online 2023 Sep 27. doi: 10.1186/s13023-023-02882-4
PMCID:
PMC10523658
ArticlePubReaderPDF–1.6MCite
16.
Association between endothelin-1 and systemic lupus erythematosus: insights from a case–control study
Rong Li, Chan Yang, Yang-Yang Tang, Da-Cheng Wang, Wang-Dong Xu, An-Fang Huang
Sci Rep. 2023; 13: 15970. Published online 2023 Sep 25. doi: 10.1038/s41598-023-43350-0
PMCID:
PMC10520074
ArticlePubReaderPDF–1.5MCite
17.
Identification of immune microenvironment changes, immune-related pathways and genes in male androgenetic alopecia
Hong-Di Xiong, Lu-Lu Tang, Hai-Ju Chen, Yi Wu, Wen-Yu Li, Si-Jian Wen, You-Kun Lin
Medicine (Baltimore) 2023 Sep 22; 102(38): e35242. Published online 2023 Sep 22. doi: 10.1097/MD.0000000000035242
PMCID:
PMC10519577
ArticlePubReaderPDF–2.7MCite
18.
A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets
Alessandra Terracciano, Margherita Lucia De Bernardi, Roberto Novizio, Davide De Brasi, Achille Iolascon, Matteo Della Monica, Francesco Scavuzzo, Domenico Serino, Antonio Novelli, Carmelo Piscopo
Endocr Metab Immune Disord Drug Targets. 2023 Jul 19; 23(9): 1235–1239. Published online 2023 Jul 19. doi: 10.2174/1871530323666230227142202
PMCID:
PMC10518859
ArticlePubReaderPDF–2.5MCite
19.
Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
Sabrina Katrin Henne, Rana Aldisi, Sugirthan Sivalingam, Lara Maleen Hochfeld, Oleg Borisov, Peter Michael Krawitz, Carlo Maj, Markus Maria Nöthen, Stefanie Heilmann-Heimbach
Nat Commun. 2023; 14: 5492. Published online 2023 Sep 22. doi: 10.1038/s41467-023-41186-w
PMCID:
PMC10517150
ArticlePubReaderPDF–4.7MCite
20.
Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia
David SACEDA-CORRALO, Daniel ORTEGA-QUIJANO, Gloria MUÑOZ-MARTÍN, Óscar M. MORENO-ARRONES, Cristina PINDADO-ORTEGA, Tuntas RAYINDA, Ana MELIÁN-OLIVERA, Carlos AZCÁRRAGA-LLOBET, Patricia BURGOS-BLASCO, María Elena CASTAÑEDA-BERMÚDEZ, Francisco J. DEL CASTILLO, Sergio VAÑÓ-GALVÁN
Acta Derm Venereol. 2023; 103: 9604. Published online 2023 Sep 18. doi: 10.2340/actadv.v103.9604
PMCID:
PMC10512966
ArticlePubReaderPDF–1.0MCite

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