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There are 15048 results for: content related to: Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

  1. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6

    Pediatric Diabetes

    Volume 15, Issue 1, February 2014, Pages: 67–72, Jennifer P Concepcion, Christina S Reh, Mark Daniels, Xiaoming Liu, Veronica P Paz, Honggang Ye, Heather M Highland, Craig L Hanis and Siri Atma W Greeley

    Version of Record online : 5 AUG 2013, DOI: 10.1111/pedi.12063

  2. You have free access to this content
    Permanent neonatal diabetes mellitus – the importance of diabetes differential diagnosis in neonates and infants

    European Journal of Clinical Investigation

    Volume 41, Issue 3, March 2011, Pages: 323–333, Oscar Rubio-Cabezas, Tomasz Klupa, Maciej T. Malecki and CEED3 Consortium

    Version of Record online : 4 NOV 2010, DOI: 10.1111/j.1365-2362.2010.02409.x

  3. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 439–445, S Jahnavi, V Poovazhagi, V Mohan, D Bodhini, P Raghupathy, A Amutha, P Suresh Kumar, P Adhikari, M Shriraam, T Kaur, AK Das, J Molnes, PR Njolstad, R Unnikrishnan and V Radha

    Version of Record online : 20 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01939.x

  4. The diagnosis and management of monogenic diabetes in children and adolescents

    Pediatric Diabetes

    Volume 15, Issue S20, September 2014, Pages: 47–64, Oscar Rubio-Cabezas, Andrew T Hattersley, Pål R Njølstad, Wojciech Mlynarski, Sian Ellard, Neil White, Dung Vu Chi and Maria E Craig

    Version of Record online : 3 SEP 2014, DOI: 10.1111/pedi.12192

  5. Pathways governing development of stem cell-derived pancreatic β cells: lessons from embryogenesis

    Biological Reviews

    Sara Al-Khawaga, Bushra Memon, Alexandra E. Butler, Shahrad Taheri, Abdul B. Abou-Samra and Essam M. Abdelalim

    Version of Record online : 22 JUN 2017, DOI: 10.1111/brv.12349

  6. You have full text access to this Open Access content
    Insulin gene mutations and diabetes

    Journal of Diabetes Investigation

    Volume 2, Issue 2, April 2011, Pages: 92–100, Masahiro Nishi and Kishio Nanjo

    Version of Record online : 17 FEB 2011, DOI: 10.1111/j.2040-1124.2011.00100.x

  7. Permanent neonatal diabetes caused by abnormalities in chromosome 6q24

    Diabetic Medicine

    Accepted manuscript online: 19 OCT 2017, B. Y. Cao, C. X. Gong, D. Wu and X. Q. Li

    DOI: 10.1111/dme.13530

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    Genetics and pathophysiology of neonatal diabetes mellitus

    Journal of Diabetes Investigation

    Volume 2, Issue 3, June 2011, Pages: 158–169, Rochelle N Naylor, Siri Atma W Greeley, Graeme I Bell and Louis H Philipson

    Version of Record online : 2 MAR 2011, DOI: 10.1111/j.2040-1124.2011.00106.x

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    Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

    Diabetes, Obesity and Metabolism

    Volume 9, Issue s2, November 2007, Pages: 28–39, A. M. Patch, S. E. Flanagan, C. Boustred, A. T. Hattersley and S. Ellard

    Version of Record online : 4 OCT 2007, DOI: 10.1111/j.1463-1326.2007.00772.x

  10. Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes

    Diabetic Medicine

    Volume 32, Issue 7, July 2015, Pages: 963–967, T. Yorifuji, K. Matsubara, A. Sakakibara, Y. Hashimoto, R. Kawakita, Y. Hosokawa, R. Fujimaru, A. Murakami, N. Tamagawa, K. Hatake, H. Nagasaka, J. Suzuki, T. Urakami, M. Izawa and M. Kagami

    Version of Record online : 11 APR 2015, DOI: 10.1111/dme.12758

  11. You have full text access to this OnlineOpen article
    Many faces of monogenic diabetes

    Journal of Diabetes Investigation

    Volume 5, Issue 2, March 2014, Pages: 121–133, Valerie M Schwitzgebel

    Version of Record online : 24 FEB 2014, DOI: 10.1111/jdi.12197

  12. Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia

    Pediatric Diabetes

    Volume 13, Issue 4, June 2012, Pages: 314–321, Charles Shaw-Smith, Sarah E Flanagan, Ann-Marie Patch, Juergen Grulich-Henn, Abdelhadi M Habeb, Khalid Hussain, Renata Pomahacova, Krystyna Matyka, Mohamed Abdullah, Andrew T Hattersley and Sian Ellard

    Version of Record online : 27 FEB 2012, DOI: 10.1111/j.1399-5448.2012.00855.x

  13. Monogenic diabetes: Implementation of translational genomic research towards precision medicine

    Journal of Diabetes

    Volume 8, Issue 6, November 2016, Pages: 782–795, Martine Vaxillaire and Philippe Froguel

    Version of Record online : 7 SEP 2016, DOI: 10.1111/1753-0407.12446

  14. You have full text access to this OnlineOpen article
    Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes

    Diabetic Medicine

    Volume 34, Issue 7, July 2017, Pages: 1000–1004, J. O. Day, S. E. Flanagan, M. H. Shepherd, A. W. Patrick, N. Abid, L. Torrens, A. J. Zeman, K. A. Patel and A. T. Hattersley

    Version of Record online : 18 JUN 2017, DOI: 10.1111/dme.13328

  15. You have full text access to this OnlineOpen article
    Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes

    Diabetic Medicine

    Volume 34, Issue 4, April 2017, Pages: 582–585, E. De Franco, R. Caswell, J. A. L. Houghton, V. Iotova, A. T. Hattersley and S. Ellard

    Version of Record online : 31 JUL 2016, DOI: 10.1111/dme.13180

  16. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1713–1717, Louise Chappell, Shaun Gorman, Fiona Campbell, Sian Ellard, Gillian Rice, Angus Dobbie and Yanick Crow

    Version of Record online : 16 JUN 2008, DOI: 10.1002/ajmg.a.32304

  17. Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide

    Pediatric Diabetes

    Volume 9, Issue 3pt1, June 2008, Pages: 236–239, Andrew A Bremer, Sayali Ranadive and Robert H Lustig

    Version of Record online : 24 JAN 2008, DOI: 10.1111/j.1399-5448.2007.00316.x

  18. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

    Pediatric Diabetes

    Volume 15, Issue 3, May 2014, Pages: 252–256, Stavit A Shalev, Yardena Tenenbaum-Rakover, Yoseph Horovitz, Veronica P Paz, Honggang Ye, David Carmody, Heather M Highland, Eric Boerwinkle, Craig L Hanis, Donna M Muzny, Richard A Gibbs, Graeme I Bell, Louis H Philipson and Siri Atma W Greeley

    Version of Record online : 21 OCT 2013, DOI: 10.1111/pedi.12086

  19. Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls

    Diabetic Medicine

    Volume 33, Issue 10, October 2016, Pages: 1380–1386, D. Carmody, A. N. Pastore, K. A. Landmeier, L. R. Letourneau, R. Martin, J. L. Hwang, R. N. Naylor, S. J. Hunter, M. E. Msall, L. H. Philipson, M. N. Scott and S. A. W. Greeley

    Version of Record online : 22 JUN 2016, DOI: 10.1111/dme.13159

  20. The endocrine pancreas: insights into development, differentiation, and diabetes

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 1, Issue 5, September/October 2012, Pages: 609–628, Teresa L. Mastracci and Lori Sussel

    Version of Record online : 14 MAR 2012, DOI: 10.1002/wdev.44