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Select item 43782581.

Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

Mohammad J Hosen, Filip Van Nieuwerburgh, Wouter Steyaert, Dieter Deforce, Ludovic Martin, Georges Leftheriotis, Anne De Paepe, Paul J Coucke, Olivier M Vanakker

J Invest Dermatol. 2015 Apr; 135(4): 992–998. Prepublished online 2014 Sep 29. Published online 2014 Oct 30. doi: 10.1038/jid.2014.421

PMCID:: PMC4378258

Abstract Article PDF–878K

Select item 52909352.

Stabilization of Nucleotide Binding Domain Dimers Rescues ABCC6 Mutants Associated with Pseudoxanthoma Elasticum

Yanchao Ran, Patrick H. Thibodeau

J Biol Chem. 2017 Feb 3; 292(5): 1559–1572. Published online 2016 Dec 19. doi: 10.1074/jbc.M116.759811

PMCID:: PMC5290935

Abstract Article PDF–1.9M

Select item 51213673.

Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?

Federica Boraldi, Sonia Costa, Claudio Rabacchi, Miriam Ciani, Olivier Vanakker, Daniela Quaglino

Mol Genet Metab Rep. 2014; 1: 477–482. Published online 2014 Nov 16. doi: 10.1016/j.ymgmr.2014.11.002

PMCID:: PMC5121367

Abstract Article PDF–479K

Select item 50884484.

Automated macular choroidal thickness measurement by swept-source optical coherence tomography in pseudoxanthoma elasticum

Rosa Dolz-Marco, María Andreu-Fenoll, Pablo Hernández-Martínez, M. Dolores Pinazo-Durán, Roberto Gallego-Pinazo

Int J Retina Vitreous. 2016; 2: 15. Published online 2016 Jun 13. doi: 10.1186/s40942-016-0040-0

PMCID:: PMC5088448

Abstract Article PDF–1.2M

Select item 50884465.

Optical coherence tomography angiography findings of choroidal neovascularization in pseudoxanthoma elasticum

Orly Gal-Or, Chandrakumar Balaratnasingam, K Bailey Freund

Int J Retina Vitreous. 2015; 1: 11. Published online 2015 Aug 7. doi: 10.1186/s40942-015-0011-x

PMCID:: PMC5088446

Abstract Article PDF–1.6M

Select item 50822666.

Comet Lesions in Patients with Pseudoxanthoma Elasticum

Sinan Tatlıpınar, Berna Şahan, Muhsin Altunsoy

Turk J Ophthalmol. 2015 Dec; 45(6): 268–270. Published online 2015 Dec 5. doi: 10.4274/tjo.84756

PMCID:: PMC5082266

Abstract Article PDF–1.1M

Select item 50212597.

Pseudoxanthoma Elasticum – Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum

Simon Pingel, Sebastian Gorgonius Passon, Kristin Solveig Pausewang, Anna Katharina Blatzheim, Carmen Pizarro, Izabela Tuleta, Martin Gliem, Peter Charbel Issa, Nadjib Schahab, Georg Nickenig, Dirk Skowasch, Christian Alexander Schaefer

PLoS One. 2016; 11(9): e0162337. Published online 2016 Sep 13. doi: 10.1371/journal.pone.0162337

PMCID:: PMC5021259

Abstract Article PDF–1.4M

Select item 50156088.

Visual loss and presumed pseudoxanthoma elasticum confirmed with genetic analysis but not with skin examination and biopsies

Carolien Aerts, Christophe De Keyser, Anita Leys

GMS Ophthalmol Cases. 2011; 1: Doc03. Published online 2011 Sep 15. doi: 10.3205/oc000003

PMCID:: PMC5015608

Abstract Article PDF–6.7M

Select item 49039929.

Localized Pseudoxanthoma Elasticum-like Changes on the Chin

Joong Sun Lee, You Chan Kim

Ann Dermatol. 2008 Dec; 20(4): 250–253. Published online 2008 Dec 31. doi: 10.5021/ad.2008.20.4.250

PMCID:: PMC4903992

Abstract Article PDF–1.3M

Select item 480457710.

Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association

Konakanchi Venkatachalam, Kavya Chennamsetty

Indian Dermatol Online J. 2016 Mar-Apr; 7(2): 103–106. doi: 10.4103/2229-5178.178078

PMCID:: PMC4804577

Abstract Article PDF–3.3M

Select item 476500111.

Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders

Qiaoli Li, Tamás Arányi, András Váradi, Sharon F. Terry, Jouni Uitto

J Invest Dermatol. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: J Invest Dermatol. 2016 Mar; 136(3): 550–556. doi: 10.1016/j.jid.2015.10.065

PMCID:: PMC4765001

Abstract Article PDF–346K

Select item 456124012.

Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment

Barbara Marconi, Ivan Bobyr, Anna Campanati, Elisa Molinelli, Veronica Consales, Valerio Brisigotti, Marina Scarpelli, Stefano Racchini, Annamaria Offidani

Intractable Rare Dis Res. 2015 Aug; 4(3): 113–122. doi: 10.5582/irdr.2015.01014

PMCID:: PMC4561240

Abstract Article PDF–874K

Select item 444416513.

Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum

Marianne K Kringen, Camilla Stormo, Jens Petter Berg, Sharon F Terry, Christine M Vocke, Samar Rizvi, Doris Hendig, Armin P Piehler

Mol Genet Genomic Med. 2015 May; 3(3): 233–237. Published online 2015 Mar 8. doi: 10.1002/mgg3.137

PMCID:: PMC4444165

Abstract Article PDF–85K

Select item 440212914.

Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations

Liang Jin, Qiujie Jiang, Zhengsheng Wu, Changxia Shao, Yong Zhou, Luting Yang, Jouni Uitto, Gang Wang

J Invest Dermatol. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: J Invest Dermatol. 2015 May; 135(5): 1294–1302. Published online 2015 Jan 23. doi: 10.1038/jid.2015.10

Correction in:: J Invest Dermatol. 2015 Sep; 135(9): 2338.

PMCID:: PMC4402129

Abstract Article PDF–1.0M

Select item 542439215.

Pseudoxanthoma elasticum

Dominique P. Germain

Orphanet J Rare Dis. 2017; 12: 85. Published online 2017 May 10. doi: 10.1186/s13023-017-0639-8

PMCID:: PMC5424392

Abstract Article PDF–1.2M

Select item 430800216.

Successful long-term management of choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: a case report

Maria Cristina Savastano, Angelo Maria Minnella, Gaetano Zinzanella, Benedetto Falsini, Aldo Caporossi

J Med Case Rep. 2014; 8: 458. Published online 2014 Dec 22. doi: 10.1186/1752-1947-8-458

PMCID:: PMC4308002

Abstract Article PDF–2.4M

Select item 422927817.

Pseudoxanthoma Elasticum Treatment with Fractional CO₂ Laser

Alessandra Grassi Salles, Adelina Fátima do Nascimento Remigio, Luciana Borsoi Moraes, Andreza Cristina Camacho Varoni, Rolf Gemperli, Marcus Castro Ferreira

Plast Reconstr Surg Glob Open. 2014 Sep; 2(9): e219. Published online 2014 Oct 7. doi: 10.1097/GOX.0000000000000173