Lista de obras - Matthew B Johnson - Dominio Público Uruguay

35th Annual Meeting of the European Association for the Study of Diabetes

artículo científico

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

artículo científico publicado en 2017

A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue--applications for studies of mitochondrial genetics in brain disorders

artículo científico publicado en 2015

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

artículo científico publicado en 2018

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

artículo científico publicado en 2014

Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells

artículo científico publicado en 2017

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

artículo científico publicado en 2017

Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes

artículo científico publicado en 2019

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

artículo científico publicado en 2018

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

artículo científico publicado en 2017

Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort

artículo científico publicado en 2015

Low IgE Is a Useful Tool to Identify STAT3 Gain-of-Function Mutations

scientific article published on 08 September 2016

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

artículo científico publicado en 2018

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes

artículo científico publicado en 2017

Monogenic autoimmune diseases of the endocrine system

artículo científico publicado en 2016

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

artículo científico publicado en 2016

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

artículo científico publicado en 2017

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

artículo científico publicado en 2017

SavvyCNV: Genome-wide CNV calling from off-target reads

artículo científico publicado en 2022

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated

artículo científico publicado en 2019

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells

artículo científico publicado en 2020

Lista de obras de Matthew B Johnson

35th Annual Meeting of the European Association for the Study of Diabetes

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue--applications for studies of mitochondrial genetics in brain disorders

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes

Genetic mutations associated with neonatal diabetes mellitus in Omani patients.

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort

Low IgE Is a Useful Tool to Identify STAT3 Gain-of-Function Mutations

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes

Monogenic autoimmune diseases of the endocrine system

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

SavvyCNV: Genome-wide CNV calling from off-target reads

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells