4.7 Article

Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin

Adi Wilf-Yarkoni et al.

Summary: This study describes a common WFS1 gene variant in Ashkenazi Jews that leads to a milder disease phenotype. It was found that the disease onset caused by this variant is later in age but with relatively mild symptoms, correlated with the impact on protein thermodynamics.

NEUROLOGY-GENETICS (2021)

Article Endocrinology & Metabolism

Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort

Claudia Gonzaga-Jauregui et al.

DIABETES (2020)

Article Endocrinology & Metabolism

Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population

Seung Shin Park et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Endocrinology & Metabolism

Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy

Isabelle Jeru et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Clinical Neurology

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

Sarah J. Pickett et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2018)

Review Urology & Nephrology

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum

Rhian L. Clissold et al.

NATURE REVIEWS NEPHROLOGY (2015)

Article Endocrinology & Metabolism

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

S. Ellard et al.

DIABETOLOGIA (2013)

Article Endocrinology & Metabolism

The Clinical Variability of Maternally Inherited Diabetes and Deafness Is Associated with the Degree of Heteroplasmy in Blood Leukocytes

M. Laloi-Michelin et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Cell Biology

Population prevalence of the MELAS A3243G mutation

Neil Manwaring et al.

MITOCHONDRION (2007)

Article Medicine, General & Internal

Maternally inherited diabetes and deafness: A multicenter study

PJ Guillausseau et al.

ANNALS OF INTERNAL MEDICINE (2001)