Search Results

There are 21962 results for: content related to: A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

  1. 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

  2. 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

    Version of Record online : 8 NOV 2011, DOI: 10.1111/j.1399-5448.2011.00828.x

  3. 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

    Version of Record online : 19 JUN 2002, DOI: 10.1002/ajmg.10495

  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

    Version of Record 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

    Version of Record online : 25 FEB 2010, DOI: 10.1111/j.1399-5448.2009.00591.x

  6. 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

    Version of Record online : 7 SEP 2010, DOI: 10.1111/j.1399-5448.2010.00679.x

  7. 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

  8. 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

  9. 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

    Version of Record online : 19 MAY 2006, DOI: 10.1111/j.1399-0004.2006.00632.x

  10. 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

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2004.tb02748.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

    Version of Record 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

    Version of Record online : 22 AUG 2007, DOI: 10.1111/j.1399-5448.2007.00278.x

  13. Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates

    American Journal of Medical Genetics Part A

    Volume 170, Issue 3, March 2016, Pages: 602–609, Asma Deeb, Abdelhadi Habeb, Walid Kaplan, Salima Attia, Suha Hadi, Amani Osman, Jamal Al-Jubeh, Sarah Flanagan, Elisa DeFranco and Sian Ellard

    Version of Record online : 13 OCT 2015, DOI: 10.1002/ajmg.a.37419

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

    Pediatric Diabetes

    Volume 16, Issue 7, November 2015, Pages: 510–520, Sophie Collardeau-Frachon, Alexandre Vasiljevic, Anne Jouvet, Raymonde Bouvier, Valérie Senée and Marc Nicolino

    Version of Record online : 18 AUG 2014, DOI: 10.1111/pedi.12201

  15. 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

  16. 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

    Version of Record online : 28 AUG 2009, DOI: 10.1111/j.1399-5448.2009.00571.x

  17. You have free access to this content
    A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density

    Journal of Bone and Mineral Research

    Volume 27, Issue 2, February 2012, Pages: 331–341, Jie Liu, Nicole Hoppman, Jeffrey R O'Connell, Hong Wang, Elizabeth A Streeten, John C McLenithan, Braxton D Mitchell and Alan R Shuldiner

    Version of Record online : 23 JAN 2012, DOI: 10.1002/jbmr.549

  18. 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

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

  19. 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

  20. You have free access to this content
    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

    Version of Record online : 1 OCT 2010, DOI: 10.1111/j.1463-1326.2010.01277.x