PMC Articles for MedGen (Select 373164) - PMC

Select item 109657501.

Challenging in leprosy relapse with antiphospholipid syndrome diagnosis: A case report

Sousan Kolahi, Leyla Ghadakchi, Amirreza Jabbaripour Sarmadian, Hamideh Azimi, Mehdi Jafarpour, Amirreza Khalaji

Clin Case Rep. 2024 Apr; 12(4): e8705. Published online 2024 Mar 26. doi: 10.1002/ccr3.8705

PMCID:: PMC10965750

Abstract Article PDF–307K

Select item 109037292.

Outcome of Transanal Endorectal Pull-Through in Patients with Hirschsprung’s Disease

Tunde Talib Sholadoye, Oluseyi Oyebode Ogunsua, Yakubu Alfa, Philip Mari Mshelbwala, Emmanuel Adoyi Ameh

Afr J Paediatr Surg. 2024 Jan-Mar; 21(1): 1–5. Published online 2023 Feb 14. doi: 10.4103/ajps.ajps_93_22

PMCID:: PMC10903729

Abstract Article PDF–386K

Select item 101228453.

A Case Report of Dyschromatosis Symmetrica Hereditaria with Glucose-6-Phosphate Dehydrogenase Deficiency

Panpan Wang, Chenyu Tang, Yige Zhao, Ping Wang

Clin Cosmet Investig Dermatol. 2023; 16: 1047–1050. Published online 2023 Apr 19. doi: 10.2147/CCID.S407052

PMCID:: PMC10122845

Abstract Article PDF–1013K

Select item 63647384.

Successful Treatment of Vitiligo Vietnamese Patients with Vitilinex® Herbal Bio-Actives in Combination with Phototherapy

Thuong Nguyen Van, Trang Trinh Minh, Doanh Le Huu, Sau Nguyen Huu, Tung Vu Thanh, Nghi Dinh Huu, Van Tran Cam, My Le Huyen, Khang Tran Hau, Hao Nguyen Trong, Marco Gandolfi, Francesca Satolli, Claudio Feliciani, Michael Tirant, Aleksandra Vojvodic, Torello Lotti

Open Access Maced J Med Sci. 2019 Jan 30; 7(2): 283–286. Published online 2019 Jan 29. doi: 10.3889/oamjms.2019.095

PMCID:: PMC6364738

Abstract Article PDF–425K

Select item 85438015.

Equine vitiligo-like depigmentation in grey horses is related to genes involved in immune response and tumor metastasis

Thomas Druml, Gottfried Brem, Brandon Velie, Gabriella Lindgren, Michaela Horna, Anne Ricard, Gertrud Grilz-Seger

BMC Vet Res. 2021; 17: 336. Published online 2021 Oct 25. doi: 10.1186/s12917-021-03046-x

PMCID:: PMC8543801

Abstract Article PDF–1.5M

Select item 52946756.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

John Y.W. Lee, Chao-Kai Hsu, Magdalene Michael, Arti Nanda, Lu Liu, James R. McMillan, Celine Pourreyron, Takuya Takeichi, Jakub Tolar, Evan Reid, Thomas Hayday, Sergiu C. Blumen, Saif Abu-Mouch, Rachel Straussberg, Lina Basel-Vanagaite, Yael Barhum, Yasmin Zouabi, Hejab Al-Ajmi, Hsin-Yu Huang, Ting-Chien Lin, Masashi Akiyama, Julia Y.Y. Lee, W.H. Irwin McLean, Michael A. Simpson, Maddy Parsons, John A. McGrath

Am J Hum Genet. 2017 Feb 2; 100(2): 364–370. Published online 2017 Feb 2. doi: 10.1016/j.ajhg.2017.01.014

PMCID:: PMC5294675

Abstract Article PDF–1.2M

Select item 36316087.

T-Cell Reconstitution after Thymus Xenotransplantation Induces Hair Depigmentation and Loss

Anna L Furmanski, Ryan F L O'Shaughnessy, Jose Ignacio Saldana, Michael P Blundell, Adrian J Thrasher, Neil J Sebire, E Graham Davies, Tessa Crompton

J Invest Dermatol. 2013 May; 133(5): 1221–1230. Published online 2013 Jan 10. doi: 10.1038/jid.2012.492

PMCID:: PMC3631608

Abstract Article PDF–6.2M

Select item 35115898.

Genome-Wide Association Study of Generalized Vitiligo in an Isolated European Founder Population Identifies SMOC2, in Close Proximity to IDDM8

Stanca A. Birlea, Katherine Gowan, Pamela R. Fain, Richard A. Spritz

J Invest Dermatol. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: J Invest Dermatol. 2010 Mar; 130(3): 798–803. Published online 2009 Nov 5. doi: 10.1038/jid.2009.347

PMCID:: PMC3511589

Abstract Article PDF–1.1M

Select item 33369939.

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination

Dimitra Kiritsi, Yinghong He, Anna M.G. Pasmooij, Meltem Onder, Rudolf Happle, Marcel F. Jonkman, Leena Bruckner-Tuderman, Cristina Has

J Clin Invest. 2012 May 1; 122(5): 1742–1746. Published online 2012 Apr 2. doi: 10.1172/JCI61976

PMCID:: PMC3336993

Abstract Article PDF–732K

Select item 333021510.

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

Sandy Léger, Xavier Balguerie, Alice Goldenberg, Valérie Drouin-Garraud, Annick Cabot, Isabelle Amstutz-Montadert, Paul Young, Pascal Joly, Virginie Bodereau, Muriel Holder-Espinasse, Robyn V Jamieson, Amanda Krause, Hongsheng Chen, Clarisse Baumann, Luis Nunes, Hélène Dollfus, Michel Goossens, Véronique Pingault

Eur J Hum Genet. 2012 May; 20(5): 584–587. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.234

PMCID:: PMC3330215

Abstract Article PDF–238K

Select item 105102811.

Waardenburg syndrome.

A P Read, V E Newton

J Med Genet. 1997 Aug; 34(8): 656–665. doi: 10.1136/jmg.34.8.656

PMCID:: PMC1051028

Summary Page Browse PDF–2.1M

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