Works matching DE "PSEUDOXANTHOMA elasticum"

Results: 217

Co-existence of Mutations in PRRT2 and ABCC6 Genes in a Turkish Family.

Published in:

Türkiye Klinikleri Journal of Case Reports, 2020, v. 28, n. 4, p. 283, doi. 10.5336/caserep.2020-75076

By:

ŞENEL, Gülçin BENBİR;
TEZEN, Didem;
TEKGÜL, Şeyma;
BAŞAK, Ayşe Nazlı;
APAYDIN, Hülya

Publication type:

Article

A personal perspective on personalized medicine.

Published in:

Genetics Research, 2013, v. 95, n. 2/3, p. 51, doi. 10.1017/S0016672313000116

By:

SHOMRON, NOAM

Publication type:

Article

PSEUDOXANTHOMA ELASTICUM, GRONBLAD-STRANDBERG SYNDROME REVIEW OF LITERATURE AND CASE REPORT.

Published in:

Isra Medical Journal, 2016, v. 8, n. 3, p. 195

By:

RASHID, MARYAM;
BABAR, AYSHA;
REHAMAN, SYEDSAIF UR;
SHUJAAT, KAMIL;
HUSSAIN, SHUJAAT

Publication type:

Article

A clinical and histological study of dental defects in a 10-year-old girl with pseudoxanthoma elasticum and amelogenesis imperfecta.

Published in:

International Journal of Paediatric Dentistry, 2008, v. 18, n. 5, p. 389, doi. 10.1111/j.1365-263X.2007.00895.x

By:

MORRIER, JEAN‐JACQUES;
ROMEAS, ANNICK;
LACAN, EMILIE;
FARGES, JEAN‐CHRISTOPHE

Publication type:

Article

Dermoscopic features of pseudoxanthoma elasticum.

Published in:

Clinical & Experimental Dermatology, 2018, v. 43, n. 2, p. 175, doi. 10.1111/ced.13308

By:

Kawashima, S.;
Togawa, Y.;
Miyachi, H.;
Matsue, H.

Publication type:

Article

Soft yellowish papules on the neck: a clinicopathological challenge.

Published in:

Clinical & Experimental Dermatology, 2016, v. 41, n. 2, p. 218, doi. 10.1111/ced.12705

By:

Frencken, K. J. A.;
Hacking, M. N. K.;
Brinkhuizen, T.;
Abdul Hamid, M. A.;
Martens, H.

Publication type:

Article

Multiple asymptomatic skin-coloured papules over the neck and antecubital areas.

Published in:

Clinical & Experimental Dermatology, 2010, v. 35, n. 3, p. e50, doi. 10.1111/j.1365-2230.2009.03333.x

By:

Abbas, O.;
Ghosn, S.;
Kurban, M.;
Salman, S.

Publication type:

Article

Red-brown macules on the abdomen.

Published in:

Clinical & Experimental Dermatology, 2008, v. 33, n. 2, p. 219, doi. 10.1111/j.1365-2230.2007.02640.x

By:

Egawa, Y.;
Tanioka, M.;
Araki, E.;
Taki, R.;
Miyachi, Y.;
Utani, A.

Publication type:

Article

Rate of Change of Carotid Intima-Media Thickness with Magnesium Administration in Abcc6−/− Mice.

Published in:

CTS: Clinical & Translational Science, 2013, v. 6, n. 6, p. 485, doi. 10.1111/cts.12057

By:

Kupetsky, Erine A.;
Rincon, Fred;
Uitto, Jouni

Publication type:

Article

Magnesium Reduces Carotid Intima-Media Thickness in a Mouse Model of Pseudoxanthoma Elasticum: A Novel Treatment Biomarker.

Published in:

CTS: Clinical & Translational Science, 2012, v. 5, n. 3, p. 259, doi. 10.1111/j.1752-8062.2011.00390.x

By:

Kupetsky-Rincon, Erine A.;
Li, Qiaoli;
Uitto, Jouni

Publication type:

Article

Pseudoxanthoma Elasticum: A Streamlined, Ethnicity-based Mutation Detection Strategy.

Published in:

CTS: Clinical & Translational Science, 2010, v. 3, n. 6, p. 295, doi. 10.1111/j.1752-8062.2010.00243.x

By:

LaRusso, Jennifer;
Ringpfeil, Franziska;
Uitto, Jouni

Publication type:

Article

Magnesium Carbonate-Containing Phosphate Binder Prevents Connective Tissue Mineralization in Abcc6−/− Mice–Potential for Treatment of Pseudoxanthoma Elasticum.

Published in:

CTS: Clinical & Translational Science, 2009, v. 2, n. 6, p. 398, doi. 10.1111/j.1752-8062.2009.00161.x

By:

Qiaoli Li;
LaRusso, Jennifer;
Grand-Pierre, Alix E.;
Jouni Uitto

Publication type:

Article

Tomographic fundus features in pseudoxanthoma elasticum: comparison with neovascular age-related macular degeneration in Japanese patients.

Published in:

Eye (0950-222X), 2012, v. 26, n. 8, p. 1086, doi. 10.1038/eye.2012.101

By:

Ellabban, A A;
Hangai, M;
Yamashiro, K;
Nakagawa, S;
Tsujikawa, A;
Yoshimura, N

Publication type:

Article

Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene.

Published in:

Eye (0950-222X), 2012, v. 26, n. 5, p. 753, doi. 10.1038/eye.2011.344

By:

Tan, M H;
Vanakker, O M;
Tran, H V;
Robson, A G;
Lai-Cheong, J E;
Groves, R;
Holder, G E;
Moore, A T

Publication type:

Article

A case of diffuse fluorescein leakage not associated with a CNV in Pseudoxanthoma elasticum.

Published in:

2010

By:

Finger, R. P.;
Issa, P. Charbel;
Holz, F. G.;
Scholl, H. P. N.

Publication type:

Letter

Photodynamic therapy (PDT) using verteporfin for juxtafoveal choroidal neovascularisation (CNV) in angioid streaks (AS) associated with pseudoxanthoma elasticum: 40 months results.

Published in:

2006

By:

Chung, A. K. K.;
Gauba, V.;
Ghanchi, F. D.

Publication type:

Case Study

Early onset pseudoxanthoma elasticum. Case report.

Published in:

2017

By:

Kuru, B. C.;
Koska, M. C.;
Çobanoğlu Simşek, B.;
Zindancı, İ;
Kavala, M.

Publication type:

Case Study

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 2, p. 112, doi. 10.1038/jhg.2009.132

By:

Costrop, Laura M. F.;
Vanakker, Olivier O. M.;
Van Laer, Lut;
Le Saux, Olivier;
Martin, Ludovic;
Chassaing, Nicolas;
Guerra, Deanna;
Ronchetti, Ivonne Pasquali-;
Coucke, Paul J.;
De Paepe, Anne

Publication type:

Article

'Eyeing' the Cause of Heart Failure: Visible Telltale Clues.

Published in:: Texas Heart Institute Journal, 2016, v. 43, n. 6, p. 552, doi. 10.14503/THIJ-16-6085.1
Publication type:: Article

Arterial Conduits Should Be Evaluated Preoperatively.

Published in:

Texas Heart Institute Journal, 2005, v. 32, n. 4, p. 576

By:

Lodge, Andrew J.;
Dodd, Leslie G.;
Lowe, James E.

Publication type:

Article

Is ABCC6 a genuine mitochondrial protein?

Published in:

BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-427

By:

Ferré, Marc;
Reynier, Pascal;
Chevrollier, Arnaud;
Prunier-Mirebeau, Delphine;
Lefthériotis, Georges;
Henrion, Daniel;
Bonneau, Dominique;
Procaccio, Vincent;
Martin, Ludovic

Publication type:

Article

An atypical case of choroidal neovascularization associated with pseudoxanthoma elasticum treated with intravitreal bevacizumab: a case report.

Published in:

BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-530

By:

Karampelas, Michael;
Soumplis, Vasileios;
Karagiannis, Dimitrios;
Parikakis, Efstratios;
Webster, Andrew R.

Publication type:

Article

Retinal degeneration and persistent serous detachment in the absence of active choroidal neovascularization in pseudoxanthoma elasticum.

Published in:

Acta Ophthalmologica (1755375X), 2014, v. 92, n. 2, p. e156, doi. 10.1111/aos.12262

By:

Hansen, Michael Stormly;
Klefter, Oliver Niels;
Larsen, Michael

Publication type:

Article

Intravitreal bevacizumab for the treatment of choroidal neovascularization secondary to angioid streaks: one year of follow-up.

Published in:

Acta Ophthalmologica (1755375X), 2011, v. 89, n. 7, p. 641, doi. 10.1111/j.1755-3768.2009.01836.x

By:

El Matri, Leila;
Kort, Fedra;
Bouraoui, Rim;
Karim, Baklouti;
Chebil, Ahmed;
Chaker, Nibrass

Publication type:

Article

Seeing through the cracks.

Published in:

Journal of the Royal College of Physicians of Edinburgh, 2022, v. 52, n. 2, p. 128, doi. 10.1177/14782715221103686

By:

Witkowski, Cecylia;
Dhillon, Niku;
Dhillon, Baljean

Publication type:

Article

Identification and lead-in characterization of novel B3 metallo-β-lactamases.

Published in:

Pakistan Journal of Pharmaceutical Sciences, 2017, v. 30, p. 335

By:

Mateen, Irsa;
Awan, Faisal Saeed;
Khan, Azeem Iqbal;
Zia, Muhammad Anjum

Publication type:

Article

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.

Published in:

Brain Pathology, 2018, v. 28, n. 6, p. 822, doi. 10.1111/bpa.12620

By:

De Vilder, Eva Y.G.;
Cardoen, Stefanie;
Hosen, Mohammad J.;
Le Saux, Olivier;
De Zaeytijd, Julie;
Leroy, Bart P.;
De Reuck, Jacques;
Coucke, Paul J.;
De Paepe, Anne;
Hemelsoet, Dimitri;
Vanakker, Olivier M.

Publication type:

Article

Pulmonary Hypertension Complicating Pulmonary Artery Involvement in Pseudoxanthoma Elasticum.

Published in:

2020

By:

Montani, David;
Jaïs, Xavier;
Humbert, Marc;
Sitbon, Oliver

Publication type:

journal article

The relative impact of vision impairment and cardiovascular disease on quality of life: the example of pseudoxanthoma elasticum.

Published in:: Health & Quality of Life Outcomes, 2011, v. 9, n. 1, p. 113, doi. 10.1186/1477-7525-9-113
Publication type:: Article

Elastosis perforans serpiginosa Associated with Pseudo-Pseudoxanthoma elasticum during Treatment of Wilson’s Disease with Penicillamine.

Published in:

Dermatology (10188665), 2005, v. 210, n. 1, p. 60, doi. 10.1159/000081487

By:

Bécuwe, Cécile;
Dalle, Stéphane;
Ronger-Savlé, Sandra;
Skowron, François;
Balme, Brigitte;
Kanitakis, Jean;
Thomas, Luc

Publication type:

Article

Measuring Dust on Skin with a Small Vacuuming Sampler—A Comparison with Other Sampling Techniques.

Published in:

Annals of Occupational Hygiene, 2006, v. 50, n. 1, p. 95, doi. 10.1093/annhyg/mei055

By:

LUNDGREN, LENNART;
SKARE, LIZBET;
LIDÉN, CAROLA

Publication type:

Article

Approach to the management of pregnancy in patients with pseudoxanthoma elasticum: a review.

Published in:

2016

By:

Camacho, Marta;
Rengel, Cristobal;
López-Herrero, Elisa;
Carrillo, Juan L.;
Eslava, Agustín J.;
Valdivielso, Pedro

Publication type:

journal article

Pebbly Flexural Skin in a Young Female.

Published in:

2017

By:

Gupta, Lalit K.;
Beniwal, Ranjana;
Bharti, Garima;
Khare, Ashok K.;
Mittal, Asit;
Mehta, Sharad;
Balai, Manisha

Publication type:

Question & Answer

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

Published in:

2016

By:

Venkatachalam, Konakanchi;
Chennamsetty, Kavya

Publication type:

Case Study

Asymptomatic esophageal varices in a case of pseudoxanthoma elasticum.

Published in:

2015

By:

Hemmady, Karishma;
Tambe, Swagata;
Jerajani, Hemangi Rajiv

Publication type:

Letter to the Editor

Pseudoxanthoma elasticum and nephrocalcinosis: Incidental finding or an infrequent manifestation?

Published in:

2014

By:

Gayen, Tirthankar;
Das, Anupam;
Roy, Sudipta;
Biswas, Shamick;
Shome, Kaushik;
Chowdhury, Satyendra N.

Publication type:

Case Study

ABSTRACTS.

Published in:: 2008
Publication type:: Abstract

Ophthalmologic manifestations of pseudoxanthoma elasticum.

Published in:

Oman Journal of Ophthalmology, 2018, v. 11, n. 1, p. 88, doi. 10.4103/ojo.OJO_123_2016

By:

Zineb, Khrifi

Publication type:

Article

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

Published in:

PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162337

By:

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

Publication type:

Article

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

Published in:

Journal of Investigative Dermatology, 2015, v. 135, n. 9, p. 2338, doi. 10.1038/jid.2015.202

By:

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

Publication type:

Article

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

Published in:

Journal of Investigative Dermatology, 2015, v. 135, n. 5, p. 1294, doi. 10.1038/jid.2015.10

By:

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

Publication type:

Article

Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum.

Published in:

Journal of Investigative Dermatology, 2015, v. 135, n. 4, p. 992, doi. 10.1038/jid.2014.421

By:

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

Publication type:

Article

Next-Generation Sequencing for Mutation Detection in Heritable Skin Diseases: The Paradigm of Pseudoxanthoma Elasticum.

Published in:

Journal of Investigative Dermatology, 2015, v. 135, n. 4, p. 937, doi. 10.1038/jid.2014.521

By:

South, Andrew P;
Li, Qiaoli;
Uitto, Jouni

Publication type:

Article

Retinitis Pigmentosa, Cutis Laxa, and Pseudoxanthoma Elasticum-Like Skin Manifestations Associated with GGCX Mutations.

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 9, p. 2331, doi. 10.1038/jid.2014.191

By:

Kariminejad, Ariana;
Bozorgmehr, Bita;
Najafi, Abdolhamid;
Khoshaeen, Atefeh;
Ghalandari, Maryam;
Najmabadi, Hossein;
Kariminejad, Mohamad H;
Vanakker, Olivier M;
Hosen, Mohammad J;
Malfait, Fransiska;
Quaglino, Daniela;
Florijn, Ralph J;
Bergen, Arthur A B;
Hennekam, Raoul C

Publication type:

Article

Changes in Dermal Fibroblasts from Abcc6−/− Mice Are Present before and after the Onset of Ectopic Tissue Mineralization.

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 7, p. 1855, doi. 10.1038/jid.2014.88

By:

Boraldi, Federica;
Bartolomeo, Angelica;
Li, Qiaoli;
Uitto, Jouni;
Quaglino, Daniela

Publication type:

Article

Analysis of Pseudoxanthoma Elasticum-Causing Missense Mutants of ABCC6 In Vivo; Pharmacological Correction of the Mislocalized Proteins.

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 4, p. 946, doi. 10.1038/jid.2013.482

By:

Pomozi, Viola;
Brampton, Christopher;
Fülöp, Krisztina;
Chen, Li-Hsieh;
Apana, Ailea;
Li, Qiaoli;
Uitto, Jouni;
Le Saux, Olivier;
Váradi, András

Publication type:

Article

Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum.

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 3, p. 658, doi. 10.1038/jid.2013.370

By:

Li, Qiaoli;
Brodsky, Jill L;
Conlin, Laura K;
Pawel, Bruce;
Glatz, Andrew C;
Gafni, Rachel I;
Schurgers, Leon;
Uitto, Jouni;
Hakonarson, Hakon;
Deardorff, Matthew A;
Levine, Michael A

Publication type:

Article

Mouse Alopecia Areata and Heart Disease: Know Your Mouse!

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 1, p. 279, doi. 10.1038/jid.2013.273

By:

Sundberg, John P;
Chevallier, Lucie;
Silva, Kathleen A;
Kennedy, Victoria E;
Sundberg, Beth A;
Li, Qiaoli;
Uitto, Jouni;
King, Lloyd E;
Berndt, Annerose

Publication type:

Article

Premature Termination Codon Read-Through in the ABCC6 Gene: Potential Treatment for Pseudoxanthoma Elasticum.

Published in:

Journal of Investigative Dermatology, 2013, v. 133, n. 12, p. 2672, doi. 10.1038/jid.2013.234

By:

Zhou, Yong;
Jiang, Qiujie;
Takahagi, Shunsuke;
Shao, Changxia;
Uitto, Jouni

Publication type:

Article

Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting.

Published in:

Journal of Investigative Dermatology, 2013, v. 133, n. 6, p. 1444, doi. 10.1038/jid.2013.20

By:

Uitto, Jouni;
Váradi, Andras;
Bercovitch, Lionel;
Terry, Patrick F;
Terry, Sharon F

Publication type:

Article