List of works - Nadia Schoenmakers

2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism

scientific article published in October 2018

A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism

scientific article published on 01 July 2014

A mutation in the thyroid hormone receptor alpha gene

scientific article published on 14 December 2011

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome

scientific article published on 01 October 2018

A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia

scientific article

An approach to quantifying abnormalities in energy expenditure and lean mass in metabolic disease

scientific article

Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates.

scientific article published on 9 April 2016

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

scientific article published on 16 June 2017

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

scientific article published on 03 February 2016

Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation.

scientific article

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

scientific article

Mitochondrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy

scientific article

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

scientific article published on 8 February 2016

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

scientific article published on 15 November 2010

Recent advances in central congenital hypothyroidism

scientific article

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia

scientific article

Resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha.

scientific article published on 23 March 2013

Semantic prioritization of novel causative genomic variants

scientific article

The IGSF1 deficiency syndrome: characteristics of male and female patients

scientific article

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

scientific article published in January 2013

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.

scientific article published on 6 May 2013

Thyroid gland: TSHR mutations and subclinical congenital hypothyroidism

scientific article published on 24 February 2015

List of works by Nadia Schoenmakers

2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism

A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism

A mutation in the thyroid hormone receptor alpha gene

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome

A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia

An approach to quantifying abnormalities in energy expenditure and lean mass in metabolic disease

Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates.

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management

Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation.

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Mitochondrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Recent advances in central congenital hypothyroidism

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia

Resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha.

Semantic prioritization of novel causative genomic variants

The IGSF1 deficiency syndrome: characteristics of male and female patients

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.

Thyroid gland: TSHR mutations and subclinical congenital hypothyroidism