Related references
Note: Only part of the references are listed.From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes
Elisa De Franco
JOURNAL OF MOLECULAR BIOLOGY (2020)
Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
Markus Lundgren et al.
CLINICAL CASE REPORTS (2019)
A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes
Farzaneh Abbasi et al.
CANADIAN JOURNAL OF DIABETES (2018)
Congenital forms of diabetes: the beta-cell and beyond
Lisa R. Letourneau et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2018)
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study
Pamela Bowman et al.
LANCET DIABETES & ENDOCRINOLOGY (2018)
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene
Monica Gabbay et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2017)
Neuropsychological impairments in children with KCNJ11 neonatal diabetes
P. Bowman et al.
DIABETIC MEDICINE (2017)
Genetic Characteristics, Clinical Spectrum, and Incidence of Neonatal Diabetes in the Emirate of AbuDhabi, United Arab Emirates
Asma Deeb et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation
Jayne A. L. Houghton et al.
DIABETES (2016)
Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings
Rachel Courtney et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2016)
Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes
Brian W. Thurber et al.
DIABETOLOGIA (2015)
Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort
Abdelhadi M. Habeb et al.
HORMONE RESEARCH IN PAEDIATRICS (2015)
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
Elisa De Franco et al.
LANCET (2015)
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
Michael N. Weedon et al.
NATURE GENETICS (2014)
Switching to Sulphonylureas in Children With iDEND Syndrome Caused by KCNJ11 Mutations Results in Improved Cerebellar Perfusion
Wojciech Fendler et al.
DIABETES CARE (2013)
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
S. Ellard et al.
DIABETOLOGIA (2013)
Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study
Kanetee Busiah et al.
LANCET DIABETES & ENDOCRINOLOGY (2013)
Management of diabetes mellitus in infants
Beate Karges et al.
NATURE REVIEWS ENDOCRINOLOGY (2012)
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia
Abdelhadi M. Habeb et al.
PEDIATRIC DIABETES (2012)
Permanent Neonatal Diabetes Mellitus: Same Mutation, Different Glycemic Control with Sulfonylurea Therapy on Long-Term Follow-up
Banu Kucukemre Aydin et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2012)
A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement
M. Al-Shammari et al.
CLINICAL GENETICS (2011)
No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes
D. Iafusco et al.
DIABETOLOGIA (2011)
Permanent neonatal diabetes mellitus - the importance of diabetes differential diagnosis in neonates and infants
Oscar Rubio-Cabezas et al.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION (2011)
Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12
F.J. Stewart et al.
CLINICAL GENETICS (2010)
Neonatal diabetes mellitus: A model for personalized medicine
Siri Atma W. Greeley et al.
TRENDS IN ENDOCRINOLOGY AND METABOLISM (2010)
Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families
Oscar Rubio-Cabezas et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Diagnosis and treatment of neonatal diabetes: an United States experience
Julie Stoy et al.
PEDIATRIC DIABETES (2008)
Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations
Meena Rafiq et al.
DIABETES CARE (2008)
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
Andrey P. Babenko et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
Ewan R. Pearson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months
Emma L. Edghill et al.
DIABETES (2006)
Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
S Brickwood et al.
JOURNAL OF MEDICAL GENETICS (2003)
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome
M Delépine et al.
NATURE GENETICS (2000)