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There are 4304 results for: content related to: A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

  1. Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism

    American Journal of Medical Genetics

    Volume 111, Issue 2, 1 August 2002, Pages: 187–190, Bassam Bin-Abbas, Abdulmohsen Al-Mulhim and Abdullah Al-Ashwal

    Article first published online : 19 JUN 2002, DOI: 10.1002/ajmg.10495

  2. Microscopic and ultrastructural features in Wolcott–Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases

    Pediatric Diabetes

    Sophie Collardeau-Frachon, Alexandre Vasiljevic, Anne Jouvet, Raymonde Bouvier, Valérie Senée and Marc Nicolino

    Article first published online : 18 AUG 2014, DOI: 10.1111/pedi.12201

  3. Two novel mutations in the EIF2AK3 gene in children with Wolcott–Rallison syndrome

    Pediatric Diabetes

    Volume 12, Issue 3pt1, May 2011, Pages: 187–191, André F Reis, Caroline Kannengiesser, Farida Jennane, Thais Della Manna, Nadir Cheurfa, Claire Oudin, Roberta Diaz Savoldelli, Carolina Oliveira, Bernard Grandchamp, Fernando Kok and Gilberto Velho

    Article first published online : 7 SEP 2010, DOI: 10.1111/j.1399-5448.2010.00679.x

  4. EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott–Rallison syndrome

    Pediatric Diabetes

    Volume 15, Issue 4, June 2014, Pages: 313–318, Suresh Jahnavi, Varadarajan Poovazhagi, Sekar Kanthimathi, Vijay Gayathri, Viswanathan Mohan and Venkatesan Radha

    Article first published online : 30 OCT 2013, DOI: 10.1111/pedi.12089

  5. Wolcott–Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature

    Pediatric Diabetes

    Volume 11, Issue 4, June 2010, Pages: 279–285, M Nuri Ozbek, Valérie Senée, Sehnaz Aydemir, L Damla Kotan, Neslihan O Mungan, Bilgin Yuksel, Cécile Julier and A Kemal Topaloglu

    Article first published online : 25 FEB 2010, DOI: 10.1111/j.1399-5448.2009.00591.x

  6. Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature

    Acta Paediatrica

    Volume 93, Issue 9, September 2004, Pages: 1195–1201, S Iyer, M Korada, L Rainbow, J Kirk, RM Brown, N Shaw and TG Barrett

    Article first published online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2004.tb02748.x

  7. A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott–Rallison syndrome

    Clinical Genetics

    Volume 70, Issue 1, July 2006, Pages: 34–38, F Durocher, R Faure, Y Labrie, L Pelletier, I Bouchard and R Laframboise

    Article first published online : 19 MAY 2006, DOI: 10.1111/j.1399-0004.2006.00632.x

  8. Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11–12

    Clinical Genetics

    Volume 49, Issue 3, March 1996, Pages: 152–155, F.J. Stewart, D.J. Carson, P.S. Thomas, M. Humphreys, C. Thornton and N.C. Nevin

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1996.tb03275.x

  9. You have free access to this content
    The diagnosis and management of monogenic diabetes in children and adolescents

    Pediatric Diabetes

    Volume 10, Issue s12, September 2009, Pages: 33–42, Andrew Hattersley, Jan Bruining, Julian Shield, Pal Njolstad and Kim C Donaghue

    Article first published online : 28 AUG 2009, DOI: 10.1111/j.1399-5448.2009.00571.x

  10. Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia

    Pediatric Diabetes

    Volume 13, Issue 6, September 2012, Pages: 499–505, Abdelhadi M Habeb, Mohamed SF Al-Magamsi, Ihsan M Eid, Mohamed I Ali, Andrew T Hattersley, Khalid Hussain and Sian Ellard

    Article first published online : 8 NOV 2011, DOI: 10.1111/j.1399-5448.2011.00828.x

  11. ISPAD Clinical Practice Consensus Guidelines 2006–2007 The diagnosis and management of monogenic diabetes in children

    Pediatric Diabetes

    Volume 7, Issue 6, December 2006, Pages: 352–360, Andrew Hattersley, Jan Bruining, Julian Shield, Pal Njolstad and Kim Donaghue

    Article first published online : 12 DEC 2006, DOI: 10.1111/j.1399-5448.2006.00217.x

  12. You have free access to this content
    Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered?

    Pediatric Diabetes

    Volume 8, Issue s6, October 2007, Pages: 15–23, Timothy Geoffrey Barrett

    Article first published online : 22 AUG 2007, DOI: 10.1111/j.1399-5448.2007.00278.x

  13. You have full text access to this OnlineOpen article
    The unfolded protein response is required to maintain the integrity of the endoplasmic reticulum, prevent oxidative stress and preserve differentiation in β-cells

    Diabetes, Obesity and Metabolism

    Volume 12, Issue s2, October 2010, Pages: 99–107, R. J. Kaufman, S. H. Back, B. Song, J. Han and J. Hassler

    Article first published online : 1 OCT 2010, DOI: 10.1111/j.1463-1326.2010.01281.x

  14. 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

    Article first published online : 4 NOV 2010, DOI: 10.1111/j.1365-2362.2010.02409.x

  15. You have full text access to this Open Access content
    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

    Article first published online : 2 MAR 2011, DOI: 10.1111/j.2040-1124.2011.00106.x

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    A switch from life to death in endoplasmic reticulum stressed β-cells

    Diabetes, Obesity and Metabolism

    Volume 12, Issue s2, October 2010, Pages: 58–65, C. M. Oslowski and F. Urano

    Article first published online : 1 OCT 2010, DOI: 10.1111/j.1463-1326.2010.01277.x

  17. Monogenic Disorders of the β-Cell

    Standard Article

    International Textbook of Diabetes Mellitus

    Ewan R. Pearson and Andrew T. Hattersley

    Published Online : 15 DEC 2003, DOI: 10.1002/0470862092.d0406

  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

    Article first published online : 21 OCT 2013, DOI: 10.1111/pedi.12086

  19. Re-alignment-procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes

    Orthopaedic Surgery

    Volume 5, Issue 1, February 2013, Pages: 33–39, Ali Al Kaissi, Rudolf Ganger, Katharina M. Roetzer, Thomas Schwarzbraun, Klaus Klaushofer and Franz Grill

    Article first published online : 18 FEB 2013, DOI: 10.1111/os.12023

  20. 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

    Article first published online : 20 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01939.x