Literature DB >> 12960215

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

S Brickwood, D T Bonthron, L I Al-Gazali, K Piper, T Hearn, D I Wilson, N A Hanley.   

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Year:  2003        PMID： 12960215      PMCID： PMC1735588          DOI： 10.1136/jmg.40.9.685

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  27 in total

1.  Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

Authors:  M C Y de Wit; I F M de Coo; C Julier; M Delépine; M H Lequin; I van de Laar; B J Sibbles; G J Bruining; G M S Mancini
Journal:  Neurogenetics       Date:  2006-09-14       Impact factor: 2.660

2.  Neonatal diabetes mellitus with recurrent hepatitis.

Authors:  N Suresh; R Ganesh; T Eswararaja; T Vasanthi; Janani Sankar; Malathi Sathiasekaran
Journal:  Indian J Pediatr       Date:  2006-05       Impact factor: 1.967

3.  Genetic Counseling for Diabetes Mellitus.

Authors:  Stephanie A Stein; Kristin L Maloney; Toni I Pollin
Journal:  Curr Genet Med Rep       Date:  2014-06-01

Review 4.  Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Authors:  Stefanie Gerstberger; Markus Hafner; Manuel Ascano; Thomas Tuschl
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

Review 5.  Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.

Authors:  J R Porter; T G Barrett
Journal:  J Med Genet       Date:  2005-03-16       Impact factor: 6.318

6.  Upregulated expression of PERK in spinal ligament fibroblasts from the patients with ossification of the posterior longitudinal ligament.

Authors:  Yu Chen; Xinwei Wang; Haisong Yang; Jinhao Miao; Xiaowei Liu; Deyu Chen
Journal:  Eur Spine J       Date:  2013-10-07       Impact factor: 3.134

7.  Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Authors:  Oscar Rubio-Cabezas; Ann-Marie Patch; Jayne A L Minton; Sarah E Flanagan; Emma L Edghill; Khalid Hussain; Amina Balafrej; Asma Deeb; Charles R Buchanan; Ian G Jefferson; Angham Mutair; Andrew T Hattersley; Sian Ellard
Journal:  J Clin Endocrinol Metab       Date:  2009-10-16       Impact factor: 5.958

Review 8.  Wolcott-Rallison syndrome.

Authors:  Cécile Julier; Marc Nicolino
Journal:  Orphanet J Rare Dis       Date:  2010-11-04       Impact factor: 4.123

9.  Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome.

Authors:  G Engelmann; J Meyburg; N Shahbek; M Al-Ali; M H Hairetis; A J Baker; R J T Rodenburg; D Wenning; C Flechtenmacher; S Ellard; J A Smeitink; G F Hoffmann; C R Buchanan
Journal:  J Inherit Metab Dis       Date:  2008-08-16       Impact factor: 4.982

Review 10.  Congenital forms of diabetes: the beta-cell and beyond.

Authors:  Lisa R Letourneau; Siri Atma W Greeley
Journal:  Curr Opin Genet Dev       Date:  2018-02-16       Impact factor: 5.578
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