4.3 Article

Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience

Related references

Note: Only part of the references are listed.
Review Biochemistry & Molecular Biology

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)

Review Cell Biology

Congenital forms of diabetes: the beta-cell and beyond

Lisa R. Letourneau et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2018)

Article Endocrinology & Metabolism

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)

Letter Endocrinology & Metabolism

Neuropsychological impairments in children with KCNJ11 neonatal diabetes

P. Bowman et al.

DIABETIC MEDICINE (2017)

Article Endocrinology & Metabolism

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

Jayne A. L. Houghton et al.

DIABETES (2016)

Article Endocrinology & Metabolism

Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings

Rachel Courtney et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

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)

Article Genetics & Heredity

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Michael N. Weedon et al.

NATURE GENETICS (2014)

Article Endocrinology & Metabolism

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

S. Ellard et al.

DIABETOLOGIA (2013)

Review Endocrinology & Metabolism

Management of diabetes mellitus in infants

Beate Karges et al.

NATURE REVIEWS ENDOCRINOLOGY (2012)

Article Endocrinology & Metabolism

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

Abdelhadi M. Habeb et al.

PEDIATRIC DIABETES (2012)

Article Endocrinology & Metabolism

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)

Letter Genetics & Heredity

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement

M. Al-Shammari et al.

CLINICAL GENETICS (2011)

Review Medicine, General & Internal

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)

Review Endocrinology & Metabolism

Neonatal diabetes mellitus: A model for personalized medicine

Siri Atma W. Greeley et al.

TRENDS IN ENDOCRINOLOGY AND METABOLISM (2010)

Article Endocrinology & Metabolism

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)

Article Endocrinology & Metabolism

Diagnosis and treatment of neonatal diabetes: an United States experience

Julie Stoy et al.

PEDIATRIC DIABETES (2008)

Article Medicine, General & Internal

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

Andrey P. Babenko et al.

NEW ENGLAND JOURNAL OF MEDICINE (2006)

Article Medicine, General & Internal

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)