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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Pediatric diabetes, 2018-10, Vol.19 Suppl 27 (S27), p.47-63

2018

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Thyroid Disorders during Pregnancy: Impact on the Fetus

Hormone research in paediatrics, 2011-01, Vol.76 (1), p.97-101

Polak, Michel

2011

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Neonatal diabetes mellitus: a disease linked to multiple mechanisms

Orphanet journal of rare diseases, 2007-03, Vol.2 (1), p.12-12, Article 12

2007

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Fertility preservation in Turner syndrome

Fertility and sterility, 2016, Vol.105 (1), p.13-19

2016

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Text message reminders for adolescents with poorly controlled type 1 diabetes: A randomized controlled trial

PloS one, 2021-03, Vol.16 (3), p.e0248549-e0248549

2021

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Neonatal Diabetes Mellitus

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

2020

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Genetics of congenital hypothyroidism: Modern concepts

Pediatric investigation, 2022-06, Vol.6 (2), p.123-134

2022

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Pubertal Timing and Growth Dynamics in Children With Severe Primary IGF-1 Deficiency: Results From the European Increlex ® Growth Forum Database Registry

Frontiers in endocrinology (Lausanne), 2022-02, Vol.13, p.812568-812568

2022

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One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.416-416, Article 416

2021

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Central Diabetes Insipidus as the Inaugural Manifestation of Langerhans Cell Histiocytosis: Natural History and Medical Evaluation of 26 Children and Adolescents

The journal of clinical endocrinology and metabolism, 2011-09, Vol.96 (9), p.E1352-E1360

2011

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Correction to: One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.144-144, Article 144

2022

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CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

EBioMedicine, 2016-11, Vol.13 (C), p.225-236

2016

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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

EMBO molecular medicine, 2018-12, Vol.10 (12), p.n/a

2018

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Mutations in BOREALIN cause thyroid dysgenesis

Human molecular genetics, 2017-02, Vol.26 (3), p.599-610

2017

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Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy

Frontiers in endocrinology (Lausanne), 2021-09, Vol.12, p.742278

2021

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Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective

Orphanet journal of rare diseases, 2023-10, Vol.18 (1), p.1-312, Article 312

2023

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Fetal thyroïdology

Best Practice & Research Clinical Endocrinology & Metabolism, 2014-03, Vol.28 (2), p.161-173

2014

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Update of Thyroid Developmental Genes

Endocrinology and metabolism clinics of North America, 2016-06, Vol.45 (2), p.243-254

2016

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Mutations in the Iodotyrosine Deiodinase Gene and Hypothyroidism

The New England journal of medicine, 2008-04, Vol.358 (17), p.1811-1818

2008

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Physician experience with once-weekly somatrogon versus once-daily rhGH regimen in pediatric patients with growth hormone deficiency: a cross-sectional survey of physicians from the global phase 3 study

Frontiers in endocrinology (Lausanne), 2023-10, Vol.14, p.1254424-1254424

2023

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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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Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures

Frontiers in endocrinology (Lausanne), 2023-10, Vol.14, p.1286747-1286747

2023

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Insulin Gene Mutations Resulting in Early-Onset Diabetes: Marked Differences in Clinical Presentation, Metabolic Status, and Pathogenic Effect Through Endoplasmic Reticulum Retention

Diabetes (New York, N.Y.), 2010-03, Vol.59 (3), p.653-661

2010

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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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Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis

BMJ paediatrics open, 2020-04, Vol.4 (1), p.e000630-e000630

2020

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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Thyroid Disorders during Pregnancy: Impact on the Fetus

Neonatal diabetes mellitus: a disease linked to multiple mechanisms

Fertility preservation in Turner syndrome

Text message reminders for adolescents with poorly controlled type 1 diabetes: A randomized controlled trial

Neonatal Diabetes Mellitus

Genetics of congenital hypothyroidism: Modern concepts

Pubertal Timing and Growth Dynamics in Children With Severe Primary IGF-1 Deficiency: Results From the European Increlex ® Growth Forum Database Registry

One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria

Central Diabetes Insipidus as the Inaugural Manifestation of Langerhans Cell Histiocytosis: Natural History and Medical Evaluation of 26 Children and Adolescents

Correction to: One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

Mutations in BOREALIN cause thyroid dysgenesis

Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy

Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective

Fetal thyroïdology

Update of Thyroid Developmental Genes

Mutations in the Iodotyrosine Deiodinase Gene and Hypothyroidism

Physician experience with once-weekly somatrogon versus once-daily rhGH regimen in pediatric patients with growth hormone deficiency: a cross-sectional survey of physicians from the global phase 3 study

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

Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures

Insulin Gene Mutations Resulting in Early-Onset Diabetes: Marked Differences in Clinical Presentation, Metabolic Status, and Pathogenic Effect Through Endoplasmic Reticulum Retention

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

Growth hormone treatment in Prader-Willi syndrome patients: systematic review and meta-analysis

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