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Neonatal Diabetes Mellitus

Frontiers in pediatrics, 2020-09, Vol.8, p.540718-540718

2020

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RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells

Cell biology international reports, 2014-12, Vol.9 (6), p.2206-2218

2014

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Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome

PloS one, 2010-10, Vol.5 (10), p.e13630-e13630

2010

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Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved

Frontiers in endocrinology (Lausanne), 2023-07, Vol.14, p.1190670-1190670

2023

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Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study

Diabetes care, 2020-06, Vol.43 (6), p.1191-1199

2020

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Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Mellitus

The Journal of biological chemistry, 2011-08, Vol.286 (32), p.28414-28424

2011

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Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French Patients

Diabetes (New York, N.Y.), 2004-10, Vol.53 (10), p.2719-2722

2004

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Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

Annals of Pediatric Endocrinology & Metabolism, 2021, 26(1), , pp.60-65

2021

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An empty hemiscrotum: Transverse testicular ectopia

Journal of pediatric surgery case reports, 2020-08, Vol.59, p.101532, Article 101532

2020

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Evaluation of the pharmacokinetics of glibenclamide tablet given, off label, orally to children suffering from neonatal syndromic hyperglycemia

European journal of clinical pharmacology, 2016-11, Vol.72 (11), p.1373-1379

2016

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New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features

Diabetes (New York, N.Y.), 2007-06, Vol.56 (6), p.1737-1741

2007

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Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index

BMC pediatrics, 2009-04, Vol.9 (1), p.24-24, Article 24

2009

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The transition from pediatric to adult care for youth with epilepsy: Basic biological, sociological, and psychological issues

Epilepsy & behavior, 2017-04, Vol.69, p.170-176

2017

Volltextzugriff (PDF)

Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

Journal of medical genetics, 2024-05, Vol.61 (5), p.411

2024

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Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus

The New England journal of medicine, 2006-08, Vol.355 (5), p.456-466

2006

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Interdisciplinary care for gender diverse adolescents. The example of the Centre hospitalier universitaire vaudois (CHUV)

Revue médicale suisse, 2024-04, Vol.20 (870), p.802

2024

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Improved General and Height-Specific Quality of Life in Children With Short Stature After 1 Year on Growth Hormone

The journal of clinical endocrinology and metabolism, 2019-06, Vol.104 (6), p.2103-2111

2019

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Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

Diabetes care, 2015-11, Vol.38 (11), p.2033-2041

2015

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Monogenic diabetes : a pioneer in precision medicine management

Revue médicale suisse, 2023-02, Vol.19 (815), p.362

2023

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Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study

Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108123-108123, Article 108123

2024

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High Prevalence of Early Endocrine Disorders After Childhood Brain Tumors in a Large Cohort

The journal of clinical endocrinology and metabolism, 2022-05, Vol.107 (5), p.e2156-e2166

2022

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Assessment of Puberty and Hypothalamic–Pituitary–Gonadal Axis Function After Childhood Brain Tumor Treatment

The journal of clinical endocrinology and metabolism, 2023-08, Vol.108 (9), p.e823-e831

2023

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The 2021 European Training Requirements in Paediatric Endocrinology and Diabetes

Hormone research in paediatrics, 2021, Vol.94 (11-12), p.441-447

2021

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Neonatal Diabetes Mellitus

RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome

Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved

Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study

Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Mellitus

Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French Patients

Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

An empty hemiscrotum: Transverse testicular ectopia

Evaluation of the pharmacokinetics of glibenclamide tablet given, off label, orally to children suffering from neonatal syndromic hyperglycemia

New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features

Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index

The transition from pediatric to adult care for youth with epilepsy: Basic biological, sociological, and psychological issues

Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus

Interdisciplinary care for gender diverse adolescents. The example of the Centre hospitalier universitaire vaudois (CHUV)

Improved General and Height-Specific Quality of Life in Children With Short Stature After 1 Year on Growth Hormone

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

Monogenic diabetes : a pioneer in precision medicine management

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study

High Prevalence of Early Endocrine Disorders After Childhood Brain Tumors in a Large Cohort

Assessment of Puberty and Hypothalamic–Pituitary–Gonadal Axis Function After Childhood Brain Tumor Treatment

The 2021 European Training Requirements in Paediatric Endocrinology and Diabetes

Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population

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