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There are 3374 results for: content related to: An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis

  1. Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome

    Pediatric Diabetes

    Volume 16, Issue 4, June 2015, Pages: 305–316, Mohammad Al-Haggar, Nanees Salem, Yahya Wahba, Nermin Ahmad, Laurence Jonard, Dina Abdel-Hady, Amany El-Hawary, Ashraf El-Sharkawy, Abdel-Rhman Eid and Amira El-Hawary

    Article first published online : 3 JUN 2014, DOI: 10.1111/pedi.12160

  2. Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene

    The Journal of Dermatology

    Etsuko Fujita, Mayumi Komine, Hidetoshi Tsuda, Akimasa Adachi, Satoru Murata, Yasuyuki Kamata, Seiji Minota and Mamitaro Ohtsuki

    Article first published online : 13 JUN 2015, DOI: 10.1111/1346-8138.12973

  3. High D-glucose reduces SLC29A1 promoter activity and adenosine transport involving specific protein 1 in human umbilical vein endothelium

    Journal of Cellular Physiology

    Volume 215, Issue 3, June 2008, Pages: 645–656, Carlos Puebla, Marcelo Farías, Marcelo González, Andrea Vecchiola, Claudio Aguayo, Bernardo Krause, Marçal Pastor-Anglada, Paola Casanello and Luis Sobrevia

    Article first published online : 6 DEC 2007, DOI: 10.1002/jcp.21347

  4. H syndrome: novel and recurrent mutations in SLC29A3

    British Journal of Dermatology

    Volume 162, Issue 5, May 2010, Pages: 1132–1134, T.P. Priya, N. Philip, V. Molho-Pessach, T. Busa, A. Dalal and A. Zlotogorski

    Article first published online : 25 FEB 2010, DOI: 10.1111/j.1365-2133.2010.09653.x

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    Overlapping high-resolution copy number alterations in cancer genomes identified putative cancer genes in hepatocellular carcinoma


    Volume 52, Issue 5, November 2010, Pages: 1690–1701, Chian-Feng Chen, En-Chi Hsu, Kuen-Tyng Lin, Pang-Hsien Tu, Hung-Wei Chang, Chin-Hui Lin, Yann-Jang Chen, De-Leung Gu, Chi-Hung Lin, Jer-Yuarn Wu, Yuan-Tsong Chen, Ming-Ta Hsu and Yuh-Shan Jou

    Article first published online : 29 OCT 2010, DOI: 10.1002/hep.23847

  6. Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC29A3 Mutation

    Pediatric Dermatology

    Volume 30, Issue 5, September/October 2013, Pages: e70–e73, Gül Yesiltepe Mutlu, Yuval Ramot, Kadir Babaoglu, Gurkan Altun, Abraham Zlotogorski and Vered Molho-Pessach

    Article first published online : 14 FEB 2013, DOI: 10.1111/pde.12085

  7. Nitric oxide reduces adenosine transporter ENT1 gene (SLC29A1) promoter activity in human fetal endothelium from gestational diabetes

    Journal of Cellular Physiology

    Volume 208, Issue 2, August 2006, Pages: 451–460, Marcelo Farías, Rody San Martín, Carlos Puebla, Jeremy D. Pearson, Javier F. Casado, Marçal Pastor-Anglada, Paola Casanello and Luis Sobrevia

    Article first published online : 10 MAY 2006, DOI: 10.1002/jcp.20680

  8. Sclerodermoid Hypertrichotic Plaques with Insulin-Dependent Diabetes Mellitus

    Pediatric Dermatology

    Volume 32, Issue 5, September/October 2015, Pages: 731–732, Vishal Gupta, Suman Patra, Mohammad Firdaus Ali and Gomathy Sethuraman

    Article first published online : 10 SEP 2015, DOI: 10.1111/pde.12574

  9. Contribution of ribavirin transporter gene polymorphism to treatment response in peginterferon plus ribavirin therapy for HCV genotype 1b patients

    Liver International

    Volume 32, Issue 5, May 2012, Pages: 826–836, Akihito Tsubota, Noritomo Shimada, Kai Yoshizawa, Tomomi Furihata, Rie Agata, Yoko Yumoto, Hiroshi Abe, Makiko Ika, Yoshihisa Namiki, Kan Chiba, Kiyotaka Fujise, Norio Tada and Yoshio Aizawa

    Article first published online : 30 DEC 2011, DOI: 10.1111/j.1478-3231.2011.02727.x

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    Sex differences in depressive, anxious behaviors and hippocampal transcript levels in a genetic rat model

    Genes, Brain and Behavior

    Volume 12, Issue 7, October 2013, Pages: 695–704, N. S. Mehta, L. Wang and E. E. Redei

    Article first published online : 6 AUG 2013, DOI: 10.1111/gbb.12063

  11. H syndrome with a novel homozygous R134C mutation in SLC29A3 gene

    International Journal of Dermatology

    Volume 52, Issue 7, July 2013, Pages: 820–823, Saritha Mohanan, Laxmisha Chandrashekar, Robert K. Semple, Devinder Mohan Thappa, Nachiappa Ganesh Rajesh, Vir S. Negi and Reena Gulati

    Article first published online : 23 JUN 2013, DOI: 10.1111/j.1365-4632.2012.05838.x

  12. Epigenomic Networking in Drug Development: From Pathogenic Mechanisms to Pharmacogenomics

    Drug Development Research

    Volume 75, Issue 6, September 2014, Pages: 348–365, Ramón Cacabelos

    Article first published online : 4 SEP 2014, DOI: 10.1002/ddr.21219

  13. Does refining the phenotype improve replication rates? A review and replication of candidate gene studies on Major Depressive Disorder and Chronic Major Depressive Disorder

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Xiaochen Luo, Nikolaos Stavrakakis, Brenda W. Penninx, Fokko J. Bosker, Willem A. Nolen, Dorret I. Boomsma, Eco J. de Geus, Johan H. Smit, Harold Snieder, Ilja M. Nolte and Catharina A. Hartman

    Article first published online : 14 NOV 2015, DOI: 10.1002/ajmg.b.32396

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    Gene expression profiling of Ewing sarcoma tumours reveals the prognostic importance of tumour–stromal interactions: a report from the Children's Oncology Group

    The Journal of Pathology: Clinical Research

    Volume 1, Issue 2, April 2015, Pages: 83–94, Samuel L. Volchenboum, Jorge Andrade, Lei Huang, Donald A. Barkauskas, Mark Krailo, Richard B. Womer, Andreas Ranft, Jenny Potratz, Uta Dirksen, Timothy J. Triche and Elizabeth R. Lawlor

    Article first published online : 25 JAN 2015, DOI: 10.1002/cjp2.9

  15. Impact of single nucleotide polymorphisms of cytarabine metabolic genes on drug toxicity in childhood acute lymphoblastic leukemia

    Pediatric Blood & Cancer

    Volume 62, Issue 4, April 2015, Pages: 622–628, Krisztina Mita Gabor, Geza Schermann, Orsolya Lautner-Csorba, Ferenc Rarosi, Daniel J. Erdelyi, Emoke Endreffy, Krisztina Berek, Katalin Bartyik, Csaba Bereczki, Csaba Szalai and Agnes F. Semsei

    Article first published online : 3 JAN 2015, DOI: 10.1002/pbc.25379

  16. Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis

    Pediatric Pulmonology

    Volume 46, Issue 4, April 2011, Pages: 385–392, Ruslan Dorfman, Chelsea Taylor, Fan Lin, Lei Sun, Andrew Sandford, Peter Paré, Yves Berthiaume, Mary Corey, Peter Durie, Julian Zielenski and on behalf of the members of the Canadian Consortium for CF Genetic Studies

    Article first published online : 21 OCT 2010, DOI: 10.1002/ppul.21372

  17. Pharmacogenomics of Central Nervous System (CNS) Drugs

    Drug Development Research

    Volume 73, Issue 8, December 2012, Pages: 461–476, Ramón Cacabelos

    Article first published online : 18 OCT 2012, DOI: 10.1002/ddr.21039

  18. You have full text access to this OnlineOpen article
    Gene expression analysis of membrane transporters and drug-metabolizing enzymes in the lung of healthy and COPD subjects

    Pharmacology Research & Perspectives

    Volume 2, Issue 4, August 2014, Tove Berg, Tove Hegelund Myrbäck, Marita Olsson, Janeric Seidegård, Viktoria Werkström, Xiao-Hong Zhou, Johan Grunewald, Lena Gustavsson and Magnus Nord

    Article first published online : 12 JUN 2014, DOI: 10.1002/prp2.54

  19. Genetic variation in the adenosine regulatory cycle is associated with posttraumatic epilepsy development


    Volume 56, Issue 8, August 2015, Pages: 1198–1206, Matthew L. Diamond, Anne C. Ritter, Edwin K. Jackson, Yvette P. Conley, Patrick M. Kochanek, Detlev Boison and Amy K. Wagner

    Article first published online : 4 JUN 2015, DOI: 10.1111/epi.13044

  20. Stress-Induced Upregulation of SLC19A3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease

    Brain Pathology

    Volume 24, Issue 3, April 2014, Pages: 270–279, Anne Schänzer, Barbara Döring, Michelle Ondrouschek, Sarah Goos, Boyan K. Garvalov, Joachim Geyer, Till Acker, Bernd Neubauer and Andreas Hahn

    Article first published online : 29 JAN 2014, DOI: 10.1111/bpa.12117