Works matching DE "CYSTINOSIS"

Results: 170

End-stage renal failure as manifestation of adolescent cystinosis.

Published in:

European Journal of Pediatrics, 2004, v. 163, n. 4/5, p. 260, doi. 10.1007/s00431-003-1395-4

By:

Marx, Michaela;
Plank, Christian;
Zimmermann, Bettina;
Dötsch, Jörg;
Graupner, Maike;
Kiehntopf, Michael

Publication type:

Article

Aortic dissection and cystinosis: is there any relationship?

Published in:

2017

By:

Tajdini, Masih;
Bayati, Mehdi;
Vasheghani-Farahani, Ali

Publication type:

journal article

Pregnancy-associated cardiomyopathy occurring in a young patient with nephropathic cystinosis.

Published in:

Cardiology in the Young, 2010, v. 20, n. 2, p. 220, doi. 10.1017/S1047951110000053

By:

Ramappa, Arun J.;
Pyatt, Jason R.

Publication type:

Article

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1019, doi. 10.1038/ejhg.2009.13

By:

Lebre, Anne-Sophie;
Morinière, Vincent;
Dunand, Olivier;
Bensman, Albert;
Morichon-Delvallez, Nicole;
Antignac, Corinne

Publication type:

Article

Mutational spectrum of the CTNS gene in Italy.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 7, p. 503, doi. 10.1038/sj.ejhg.5200993

By:

Mason, Silvia;
Pepe, Guglielmina;
Dall'Amico, Roberto;
Tartaglia, Sara;
Casciani, Stefania;
Greco, Marcella;
Bencivenga, Paola;
Murer, Luisa;
Rizzoni, Gianfranco;
Tenconi, Romano;
Clementi, Maurizio

Publication type:

Article

Molecular Analysis of Cystinosis: Probable Irish Origin of the Most Common French Canadian Mutation.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 6, p. 671, doi. 10.1038/sj.ejhg.5200349

By:

McGowan-Jordan, Jean;
Stoddard, Karen;
Podolsky, Luba;
Orrbine, Elaine;
McLaine, Peter;
Town, Margaret;
Goodyer, Paul;
MacKenzie, Alex;
Heick, Hans

Publication type:

Article

CTNS molecular genetics profile in a Persian nephropathic cystinosis population.

Published in:

Nefrologia, 2017, v. 37, n. 3, p. 301, doi. 10.1016/j.nefro.2016.11.024

By:

Ghazi, Farideh;
Hosseini, Rozita;
Akouchekian, Mansoureh;
Teimourian, Shahram;
Ataei Kachoei, Zohreh;
Otukesh, Hassan;
Gahl, William A.;
Behnam, Babak

Publication type:

Article

Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.

Published in:

Nefrologia, 2015, v. 35, n. 6, p. 547, doi. 10.1016/j.nefro.2015.09.009

By:

Jaradat, Saied;
Al-Rababah, Bothina;
Hazza, Issa;
Akl, Kamal;
Saca, Edward;
Al-Younis, Doaa

Publication type:

Article

The first Molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.

Published in:

Nefrologia, 2013, v. 33, n. 3, p. 308, doi. 10.3265/Nefrologia.pre2012.Sep.11558

By:

Shahkarami, Sepideh;
Galehdari, Hamid;
Ahmadzadeh, Ali;
Babaahmadi, Mahnaz;
Pedram, Mohammad

Publication type:

Article

Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns.

Published in:

BMC Genomics, 2000, v. 1, p. 1

By:

Cherqui, Stéphanie;
Kalatzis, Vasiliki;
Forestier, Lionel;
Poras, Isabelle;
Antignac, Corinne

Publication type:

Article

Nephropathic Infantile Form of Cystinosis About One Case.

Published in:

Fetal & Pediatric Pathology, 2013, v. 32, n. 1, p. 66, doi. 10.3109/15513815.2012.671445

By:

Sfaihi, Lamia;
Aloulou, Hajer;
Ben Amor, Saloua;
Kamoun, Thouraya;
Hachicha, Mongia

Publication type:

Article

Distribution of cystinosin-LKG in human tissues.

Published in:

Histochemistry & Cell Biology, 2012, v. 138, n. 2, p. 351, doi. 10.1007/s00418-012-0958-8

By:

Taranta, Anna;
Petrini, Stefania;
Citti, Arianna;
Boldrini, Renata;
Corallini, Serena;
Bellomo, Francesco;
Levtchenko, Elena;
Emma, Francesco

Publication type:

Article

Pseudocyst of the Auricle: Successful Treatment with Intracartilaginous Trichloroacetic Acid and Button Bolsters.

Published in:

Journal of Dermatologic Surgery & Oncology, 1991, v. 17, n. 3, p. 255, doi. 10.1111/j.1524-4725.1991.tb03639.x

By:

Cohen, Philip R.;
Katz, Bruce E.

Publication type:

Article

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.

Published in:

Clinical Case Reports, 2018, v. 6, n. 9, p. 1871, doi. 10.1002/ccr3.1678

By:

Anastasiya, Kozina A.;
Elena, Okuneva G.;
Natalia, Baryshnikova V.;
Anna, Krasnenko Yu.;
Kirill, Tsukanov Yu.;
Olesya, Klimchuk I.;
Tatiana, Nikishina A.;
Inessa, Fedoniuk D.;
Ekaterina, Surkova I.;
Peter, Shatalov A.;
Valery, Ilinsky V.

Publication type:

Article

Cysteamine in renal transplantation: A report of two patients with nephropathic cystinosis and the successful re-initiation of cysteamine therapy during the immediate post-transplant period.

Published in:

Pediatric Transplantation, 2016, v. 20, n. 1, p. 141, doi. 10.1111/petr.12617

By:

Berryhill, Allison;
Bhamre, Suvarna;
Chaudhuri, Abanti;
Concepcion, Waldo;
Grimm, Paul C.

Publication type:

Article

Radiotherapy-induced hyperthyroidism in a cystinotic kidney transplant patient with Hodgkin lymphoma.

Published in:

Pediatric Transplantation, 2011, v. 15, n. 3, p. e56, doi. 10.1111/j.1399-3046.2009.01274.x

By:

Guzzo, Isabella;
Di Zazzo, Giacomo;
Grossi, Armando;
Greco, Marcella;
Dello Strologo, Luca

Publication type:

Article

Cystinosis.

Published in:: Annals of Internal Medicine, 1968, v. 68, n. 4, p. 883
Publication type:: Article

Stem Cell Microvesicles Transfer Cystinosin to Human Cystinotic Cells and Reduce Cystine Accumulation In Vitro.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042840

By:

Iglesias, Diana M.;
El-Kares, Reyhan;
Taranta, Anna;
Bellomo, Francesco;
Emma, Francesco;
Besouw, Martine;
Levtchenko, Elena;
Toelen, Jaan;
den Heuvel, Lambertus van;
LeeLee Chu;
Jing Zhao;
Young, Yoon Kow;
Eliopoulos, Nicoletta;
Goodyer, Paul;
Borlongan, Cesario V.

Publication type:

Article

Cysteamine Suppresses Invasion, Metastasis and Prolongs Survival by Inhibiting Matrix Metalloproteinases in a Mouse Model of Human Pancreatic Cancer.

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034437

By:

Fujisawa, Toshio;
Rubin, Benjamin;
Suzuki, Akiko;
Patel, Prabhudas S.;
Gahl, William A.;
Joshi, Bharat H.;
Puri, Raj K.

Publication type:

Article

Diversity of human hair pigmentation as studied by chemical analysis of eumelanin and pheomelanin.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2011, v. 25, n. 12, p. 1369, doi. 10.1111/j.1468-3083.2011.04278.x

By:

Ito, S.;
Wakamatsu, K.

Publication type:

Article

Behavioral profiles of children with infantile nephropathic cystinosis.

Published in:

Developmental Medicine & Child Neurology, 2005, v. 47, n. 6, p. 403, doi. 10.1017/S0012162205000782

By:

Gustavo Delgado;
Amy Schatz;
Sharon Nichols;
Mark Appelbaum;
Doris Trauner

Publication type:

Article

Cystinosin is a melanosomal protein that regulates melanin synthesis.

Published in:

FASEB Journal, 2012, v. 26, n. 9, p. 3779, doi. 10.1096/fj.11-201376

By:

Chiaverini, Christine;
Sillard, Laura;
Flori, Enrica;
Ito, Shosuke;
Briganti, Stefania;
Wakamatsu, Kazumasa;
Fontas, Eric;
Berard, Etienne;
Cailliez, Mathilde;
Cochat, Pierre;
Foulard, Michel;
Guest, Geneviève;
Niaudet, Patrick;
Picardo, Mauro;
Bernard, François-Xavier;
Antignac, Corinne;
Ortonne, Jean Paul;
Ballotli, Robert

Publication type:

Article

Infantile Cystinosis.

Published in:

Archives of Pathology & Laboratory Medicine, 2005, v. 129, n. 1, p. 126, doi. 10.5858/2005-129-126-ic

By:

Rakheja, Dinesh;
Wooten, Dennis C.;
Gomez, Ana M.

Publication type:

Article

Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study.

Published in:

Kurdistan Journal of Applied Research (KJAR), 2018, v. 3, n. 1, p. 5, doi. 10.24017/science.2018.1.2

By:

Hunar Jamal Hussein;
Khalid Hama Salih;
Adnan Mohammed Hasan

Publication type:

Article

Characterization of CTNS mutations in Arab patients with Cystinosis.

Published in:

Ophthalmic Genetics, 2009, v. 30, n. 4, p. 185, doi. 10.3109/13816810903200953

By:

Aldahmesh, Mohammed A.;
Humeidan, Amal;
Almojalli, Hamad A.;
Khan, Arif O.;
Rajab, Mohammed;
AL-Abbad, Abbas A.;
F. Meyer, Brian;
Alkuraya, Fowzan S.

Publication type:

Article

Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria.

Published in:

Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 3, p. 5, doi. 10.7860/JCDR/2015/10875.5692

By:

KANTHILA, JAYASHREE;
SMITHA, D. S. A.;
BHAT, KAMALAKSHI G.

Publication type:

Article

Analysis of the CTNS gene in 32 cystinosis patients from Spain.

Published in:

Clinical Genetics, 2009, v. 76, n. 5, p. 486, doi. 10.1111/j.1399-0004.2009.01222.x

By:

Macías-Vidal, J.;
Rodés, M.;
Hernández-Pérez, J. M.;
Vilaseca, M. A.;
Coll, M. J.

Publication type:

Article

Can Cystinosis Cause Coronary Artery Dilatation?

Published in:

Pediatric Cardiology, 2006, v. 27, n. 2, p. 263, doi. 10.1007/s00246-005-1107-0

By:

Olgar, S.;
Nisli, K.;
Dindar, A.;
Omeroglu, R. E.;
Ertugrul, T.

Publication type:

Article

Progressive destructive bone changes in patients with cystinosis.

Published in:

Skeletal Radiology, 2014, v. 43, n. 3, p. 387, doi. 10.1007/s00256-013-1735-z

By:

Klusmann, Maria;
Hoff, William;
Monsell, Fergal;
Offiah, Amaka

Publication type:

Article

FISH diagnosis of the common 57-kb deletion inCTNScausing cystinosis.

Published in:

Human Genetics, 2004, v. 115, n. 6, p. 510, doi. 10.1007/s00439-004-1170-2

By:

Bendavid, Claude;
Kleta, Robert;
Long, Robert;
Ouspenskaia, Maia;
Muenke, Maximilian;
Haddad, Bassem R.;
Gahl, William A.

Publication type:

Article

Mood and illness experiences of adults with cystinosis.

Published in:

Renal Failure, 2015, v. 37, n. 5, p. 835, doi. 10.3109/0886022X.2015.1015391

By:

Beinart, Naomi;
Hackett, Ruth A.;
Graham, Christopher D.;
Weinman, John;
Ostermann, Marlies

Publication type:

Article

A Rare Case of Cystinosis Presenting with Alkalosis.

Published in:

Renal Failure, 2013, v. 35, n. 2, p. 279, doi. 10.3109/0886022X.2012.745116

By:

Topaloğlu, Naci;
Tekin, Mustafa;
Yıldırım, Şule;
Gencer, Baran

Publication type:

Article

Rare Presentation of Cystinosis Mimicking Bartter's Syndrome: Reports of Two Patients and Review of the Literature.

Published in:

Renal Failure, 2010, v. 32, n. 2, p. 277, doi. 10.3109/08860221003592804

By:

Çaltik, Aysun;
Akyüz, Sare Gülfem;
Erdogan, Özlem;
Bülbül, Mehmet;
Demircin, Gülay

Publication type:

Article

Endocrine complications during and after adolescence in a patient with cystinosis.

Published in:

2016

By:

Moon Bae Ahn;
Sung Eun Kim;
Won Kyoung Cho;
Min Ho Jung;
Byung Kyu Suh

Publication type:

Case Study

The AP-3 adaptor complex mediates sorting of yeast and mammalian PQ-loop-family basic amino acid transporters to the vacuolar/lysosomal membrane.

Published in:

Scientific Reports, 2015, p. 16665, doi. 10.1038/srep16665

By:

Llinares, Elisa;
Barry, Abdoulaye Oury;
André, Bruno

Publication type:

Article

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum.

Published in:

Ophthalmology & Therapy, 2018, v. 7, n. 2, p. 307, doi. 10.1007/s40123-018-0146-6

By:

Biswas, Susmito;
Gaviria, Martha;
Malheiro, Luísa;
Marques, João Pedro;
Giordano, Vincenzo;
Liang, Hong

Publication type:

Article

Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis.

Published in:

Ophthalmology & Therapy, 2017, v. 6, n. 1, p. 93, doi. 10.1007/s40123-017-0089-3

By:

Pinxten, Anne-Marie;
Hua, Minh-Tri;
Simpson, Jennifer;
Hohenfellner, Katharina;
Levtchenko, Elena;
Casteels, Ingele

Publication type:

Article

Cholestatic liver disease in long-term infantile nephropathic cystinosis.

Published in:

Journal of Gastroenterology & Hepatology, 2008, v. 23, n. 8pt2, p. e428, doi. 10.1111/j.1440-1746.2008.05312.x

By:

Cornelis, Tom;
Claes, Kathleen;
Gillard, Pieter;
Nijs, Els;
Roskams, Tania;
Lombaerts, Rita;
Nevens, Frederik;
Cassiman, David

Publication type:

Article

Craniofacial and dental findings in cystinosis.

Published in:

Oral Diseases, 2010, v. 16, n. 5, p. 488, doi. 10.1111/j.1601-0825.2010.01662.x

By:

Bassim, CW;
Gautam, P;
Domingo, DL;
Balog, JZ;
Guadagnini, JP;
Gahl, WA;
Hart, TC

Publication type:

Article

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2507, doi. 10.1093/hmg/8.13.2507

By:

Attard, Marlene;
Jean, Genevieve;
Forestier, Lionel;
Cherqui, Stephanie;
van't Hoff, William;
Broyer, Michel;
Antignac, Corinne;
Town, Margaret

Publication type:

Article

Cystinosis Presenting with Features Suggesting Bartter Syndrome.

Published in:

Clinical Pediatrics, 1985, v. 24, n. 8, p. 447, doi. 10.1177/000992288502400806

By:

Whyte, Michael P.;
Shaheb, Sudah;
Schnaper, H. William

Publication type:

Article

Improving the prognosis of nephropathic cystinosis.

Published in:

International Journal of Nephrology & Renovascular Disease, 2014, v. 7, p. 297, doi. 10.2147/IJNRD.S37603

By:

Besouw, Martine T. P.;
Levtchenko, Elena N.

Publication type:

Article

Priority target conditions for algorithms for monitoring children's growth: Interdisciplinary consensus.

Published in:

PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0176464

By:

Scherdel, Pauline;
Reynaud, Rachel;
Pietrement, Christine;
Salaün, Jean-François;
Bellaïche, Marc;
Arnould, Michel;
Chevallier, Bertrand;
Piloquet, Hugues;
Jobez, Emmanuel;
Cheymol, Jacques;
Bichara, Emmanuelle;
null, null;
Heude, Barbara;
Chalumeau, Martin

Publication type:

Article

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

Published in:

2018

By:

Bastug, Funda;
Nalcacioglu, Hulya;
Ozaltin, Fatih;
Korkmaz, Emine;
Yel, Sibel

Publication type:

journal article

Gastrointestinal Manifestations of Nephropathic Cystinosis in Children.

Published in:

Iranian Journal of Kidney Diseases, 2009, v. 3, n. 4, p. 218

By:

Nakhaii, Shahrbanoo;
Hooman, Nakysa;
Otoukesh, Hassan

Publication type:

Article

Cysteamine therapy: a treatment for cystinosis, not a cure.

Published in:

Kidney International, 2012, v. 81, n. 2, p. 127, doi. 10.1038/ki.2011.301

By:

Cherqui, Stephanie

Publication type:

Article

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults.

Published in:

Kidney International, 2012, v. 81, n. 2, p. 179, doi. 10.1038/ki.2011.277

By:

Brodin-Sartorius, Albane;
Tête, Marie-Josèphe;
Niaudet, Patrick;
Antignac, Corinne;
Guest, Geneviève;
Ottolenghi, Chris;
Charbit, Marina;
Moyse, Dominique;
Legendre, Christophe;
Lesavre, Philippe;
Cochat, Pierre;
Servais, Aude

Publication type:

Article

Antioxidant Effect of Cysteamine in Brain Cortex of Young Rats.

Published in:

Neurochemical Research, 2008, v. 33, n. 5, p. 737

By:

Micheli Biasibetti;
Denizar da Silva Melo;
Moacir Wajner;
Carlos Dutra-Filho;
Ãngela de Souza Wyse;
Clovis Wannmacher

Publication type:

Article

Cystinosis: a review.

Published in:

2016

By:

Elmonem, Mohamed A.;
Veys, Koenraad R.;
Soliman, Neveen A.;
van Dyck, Maria;
van den Heuvel, Lambertus P.;
Levtchenko, Elena

Publication type:

journal article

Excellent long-term outcome of renal transplantation in cystinosis patients.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0307-9

By:

Cohen, Camille;
Charbit, Marina;
Chadefaux-Vekemans, Bernadette;
Giral, Magali;
Garrigue, Valérie;
Kessler, Michèle;
Antoine, Corinne;
Snanoudj, Renaud;
Niaudet, Patrick;
Kreis, Henri;
Legendre, Christophe;
Servais, Aude

Publication type:

Article