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There are 18918 results for: content related to: Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

  1. Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 856–859, Yoshiko Takahashi, Katsunori Fujii, Akiko Yoshida, Hiroko Morisaki, Yoichi Kohno and Takayuki Morisaki

    Version of Record online : 12 MAR 2013, DOI: 10.1002/ajmg.a.35776

  2. Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1164–1169, Marco Castori, Marco Ritelli, Nicoletta Zoppi, Luisa Molisso, Nicola Chiarelli, Fulvio Zaccagna, Paola Grammatico and Marina Colombi

    Version of Record online : 9 APR 2012, DOI: 10.1002/ajmg.a.35266

  3. Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 2, 15 January 2007, Pages: 216–218, Bruno Drera, Andrea Guala, Nicoletta Zoppi, Rita Gardella, Piergiorgio Franceschini, Sergio Barlati and Marina Colombi

    Version of Record online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31514

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    Glucose transporter 10 and arterial tortuosity syndrome: The vitamin C connection

    FEBS Letters

    Volume 584, Issue 14, July 16, 2010, Pages: 2990–2994, Fernando Segade

    Version of Record online : 12 JUN 2010, DOI: 10.1016/j.febslet.2010.06.011

  5. Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene

    Clinical Genetics

    Volume 75, Issue 6, June 2009, Pages: 588–589, SHE Zaidi, S Meyer, I Peltekova, AS Teebi and M Faiyaz-Ul-Haque

    Version of Record online : 17 MAR 2009, DOI: 10.1111/j.1399-0004.2009.01165.x

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    The protein family of glucose transport facilitators: It's not only about glucose after all

    IUBMB Life

    Volume 62, Issue 5, May 2010, Pages: 315–333, Robert Augustin

    Version of Record online : 5 MAR 2010, DOI: 10.1002/iub.315

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    Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport

    FEBS Letters

    Volume 590, Issue 11, June 2016, Pages: 1630–1640, Csilla E. Németh, Paola Marcolongo, Alessandra Gamberucci, Rosella Fulceri, Angiolo Benedetti, Nicoletta Zoppi, Marco Ritelli, Nicola Chiarelli, Marina Colombi, Andy Willaert, Bert L. Callewaert, Paul J. Coucke, Pál Gróf, Szilvia K. Nagy, Tamás Mészáros, Gábor Bánhegyi and Éva Margittai

    Version of Record online : 27 MAY 2016, DOI: 10.1002/1873-3468.12204

  8. Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 105–116, Juan L. Rodriguez-Flores, Khalid Fakhro, Neil R. Hackett, Jacqueline Salit, Jennifer Fuller, Francisco Agosto-Perez, Maey Gharbiah, Joel A. Malek, Mahmoud Zirie, Amin Jayyousi, Ramin Badii, Ajayeb Al-Nabet Al-Marri, Lotfi Chouchane, Dora J. Stadler, Jason G. Mezey and Ronald G. Crystal

    Version of Record online : 10 NOV 2013, DOI: 10.1002/humu.22460

  9. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

    Human Mutation

    Volume 29, Issue 1, January 2008, Pages: 150–158, B.L. Callewaert, A. Willaert, W.S. Kerstjens-Frederikse, J. De Backer, K. Devriendt, B. Albrecht, M.A. Ramos-Arroyo, M. Doco-Fenzy, R.C.M. Hennekam, R.E. Pyeritz, O.N. Krogmann, G. Gillessen-kaesbach, E.L. Wakeling, S. Nik-zainal, C. Francannet, P. Mauran, C. Booth, M. Barrow, R. Dekens, B.L. Loeys, P.J. Coucke and A.M. De Paepe

    Version of Record online : 12 OCT 2007, DOI: 10.1002/humu.20623

  10. Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions

    genesis

    Volume 46, Issue 8, August 2008, Pages: 385–389, B.L. Callewaert, B.L. Loeys, C. Casteleyn, A. Willaert, P. Dewint, J. De Backer, R. Sedlmeier, P. Simoens, A.M. De Paepe and P.J. Coucke

    Version of Record online : 8 AUG 2008, DOI: 10.1002/dvg.20409

  11. A GLUT of sugar leads to a tortuous future

    Clinical Genetics

    Volume 70, Issue 2, August 2006, Pages: 111–113, M Kang

    Version of Record online : 7 JUL 2006, DOI: 10.1111/j.1399-0004.2006.0645_3.x

  12. Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology?

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 30–32, M Wessels and P J Willems

    Version of Record online : 8 APR 2012, DOI: 10.1111/j.1399-0004.2012.01870.x

  13. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 6–22, Marina Colombi, Chiara Dordoni, Nicola Chiarelli and Marco Ritelli

    Version of Record online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31429

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    The pathobiology of vascular malformations: insights from human and model organism genetics

    The Journal of Pathology

    Volume 241, Issue 2, January 2017, Pages: 281–293, Sarah E Wetzel-Strong, Matthew R Detter and Douglas A Marchuk

    Version of Record online : 4 DEC 2016, DOI: 10.1002/path.4844

  15. A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13

    Clinical Genetics

    Volume 67, Issue 2, February 2005, Pages: 183–188, SHE Zaidi, V Peltekova, S Meyer, A Lindinger, AD Paterson, L-C Tsui, M Faiyaz-Ul-Haque and AS Teebi

    Version of Record online : 7 DEC 2004, DOI: 10.1111/j.1399-0004.2004.00391.x

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    Prenatal diagnosis of arterial tortuosity syndrome

    Ultrasound in Obstetrics & Gynecology

    Volume 32, Issue 5, October 2008, Pages: 714–715, H. Aslan, K. Gungorduk, G. Yıldırım and Y. Ceylan

    Version of Record online : 12 SEP 2008, DOI: 10.1002/uog.6153

  17. Vascular tortuosity may be related to intracranial artery atherosclerosis

    International Journal of Stroke

    Volume 10, Issue 7, October 2015, Pages: 1081–1086, Bum Joon Kim, Seung Min Kim, Dong-Wha Kang, Sun U. Kwon, Dae C. Suh and Jong S. Kim

    Version of Record online : 9 JUN 2015, DOI: 10.1111/ijs.12525

  18. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1747–1757, Whitney Wooderchak-Donahue, Chad VanSant-Webb, Tatiana Tvrdik, Parker Plant, Tracey Lewis, Jennifer Stocks, Joshua A. Raney, Lindsay Meyers, Alizabeth Berg, Alan F. Rope, Anji T. Yetman, Steven B. Bleyl, Rebecca Mesley, David A. Bull, R. Thomas Collins, Mayra Martinez Ojeda, Amy Roberts, Ronald Lacro, Audrey Woerner, Joan Stoler and Pinar Bayrak-Toydemir

    Version of Record online : 5 MAY 2015, DOI: 10.1002/ajmg.a.37085

  19. Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 808–814, Dorien Proost, Geert Vandeweyer, Josephina A.N. Meester, Simone Salemink, Marlies Kempers, Christie Ingram, Nils Peeters, Johan Saenen, Christiaan Vrints, Ronald V. Lacro, Dan Roden, Wim Wuyts, Harry C. Dietz, Geert Mortier, Bart L. Loeys and Lut Van Laer

    Version of Record online : 13 JUN 2015, DOI: 10.1002/humu.22802

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    Matrix-dependent perturbation of TGFβ signaling and disease

    FEBS Letters

    Volume 586, Issue 14, July 04, 2012, Pages: 2003–2015, Jefferson J. Doyle, Elizabeth E. Gerber and Harry C. Dietz

    Version of Record online : 26 MAY 2012, DOI: 10.1016/j.febslet.2012.05.027