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Natural history of Wolcott‐Rallison syndrome: A systematic review and follow‐up study

Liver international, 2024-03, Vol.44 (3), p.811-822

2024

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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

Pediatric diabetes, 2019-05, Vol.20 (3), p.366-369

2019

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Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene

Clinical endocrinology (Oxford), 2011-07, Vol.75 (1), p.39-43

2011

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GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

Proceedings of the National Academy of Sciences - PNAS, 2009-07, Vol.106 (28), p.11703-11708

2009

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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

Genetics in medicine, 2020-11, Vol.22 (11), p.1759-1767

2020

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Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism

JCI insight, 2023-03, Vol.8 (5)

2023

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Transient severe non‐proliferative retinopathy in an adolescent with type 1 diabetes and chronic myeloid leukemia

Pediatric diabetes, 2013-05, Vol.14 (3), p.227-229

2013

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Estrogens: Two nuclear receptors, multiple possibilities

Molecular and cellular endocrinology, 2022-08, Vol.554, p.111710-111710, Article 111710

2022

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Loss of Kinase Activity in a Patient With Wolcott-Rallison Syndrome Caused By a Novel Mutation in the EIF2AK3 Gene

Diabetes (New York, N.Y.), 2002-07, Vol.51 (7), p.2301-2305

2002

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Improved glycemic control and lower frequency of severe hypoglycemia with insulin detemir; long-term experience in 105 children and adolescents with type 1 diabetes

Pediatric diabetes, 2008-08, Vol.9 (4pt2), p.382-387

2008

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Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2)

The journal of clinical endocrinology and metabolism, 2018-10, Vol.103 (10), p.3748-3756

2018

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Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism

Clinical genetics, 2017-08, Vol.92 (2), p.213-216

2017

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A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature

Journal of Pediatric Endocrinology and Metabolism, 2019-09, Vol.32 (9), p.1027-1030

2019

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Aktuelle Herausforderungen in der Therapie des Typ-1-Diabetes beim Kind

Swiss medical forum, 2022-11

2022

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Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond

The journal of clinical endocrinology and metabolism, 2022-01, Vol.107 (2), p.e487-e499

2022

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Atypical familial diabetes associated with a novel NEUROD1 nonsense variant

Journal of Pediatric Endocrinology and Metabolism, 2023-01, Vol.36 (1), p.101-104

2023

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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

European journal of endocrinology, 2018-04, Vol.178 (4), p.377-388

2018

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Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report

Journal of Pediatric Endocrinology and Metabolism, 2019-11, Vol.32 (11), p.1299-1303

2019

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DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

Human molecular genetics, 2018-01, Vol.27 (2), p.359-372

2018

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Children With Congenital Hypothyroidism : Long-Term Intellectual Outcome After Early High-Dose Treatment

Pediatric research, 2009-02, Vol.65 (2), p.242-248

2009

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Défis actuels dans le traitement du diabète de type 1 chez l’enfant

Forum médical suisse (En ligne), 2022-11

2022

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Two Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns

Frontiers in pediatrics, 2017-03, Vol.5, p.35

2017

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When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)

The journal of clinical endocrinology and metabolism, 2012-09, Vol.97 (9), p.E1798-E1807

2012

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Natural history of Wolcott‐Rallison syndrome: A systematic review and follow‐up study

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism

Transient severe non‐proliferative retinopathy in an adolescent with type 1 diabetes and chronic myeloid leukemia

Estrogens: Two nuclear receptors, multiple possibilities

Loss of Kinase Activity in a Patient With Wolcott-Rallison Syndrome Caused By a Novel Mutation in the EIF2AK3 Gene

Improved glycemic control and lower frequency of severe hypoglycemia with insulin detemir; long-term experience in 105 children and adolescents with type 1 diabetes

Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2)

Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism

A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature

Aktuelle Herausforderungen in der Therapie des Typ-1-Diabetes beim Kind

Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond

Atypical familial diabetes associated with a novel NEUROD1 nonsense variant

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report

NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

Children With Congenital Hypothyroidism : Long-Term Intellectual Outcome After Early High-Dose Treatment

Défis actuels dans le traitement du diabète de type 1 chez l’enfant

Two Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns

When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)

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