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List of works by Johnny Deladoëy

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

scientific article published on 30 January 2012

A Search for Variables Predicting Cortisol Response to Low-Dose Corticotropin Stimulation Following Supraphysiological Doses of Glucocorticoids ⬇️

scientific article published on February 12, 2013

A high prevalence of dual thyroid ectopy in congenital hypothyroidism: evidence for insufficient signaling gradients during embryonic thyroid migration or for the polyclonal nature of the thyroid gland?

scientific article published on 28 March 2012

A novel presentation of diffuse lung disease caused by congenital hypothyroidism

scientific article published on 01 October 2009

Are guidelines for glucocorticoid coverage in adrenal insufficiency currently followed?

scientific article published on 30 October 2010

Association of adrenal insufficiency with insulin-dependent diabetes mellitus in a patient with inactivating mutations in nicotinamide nucleotide transhydrogenase: a phenocopy of the animal model.

scientific article

Autonomous adenomas caused by somatic mutations of the thyroid-stimulating hormone receptor in children.

scientific article published on 30 January 2014

Clinical case seminar in pediatric thyroid disease.

scientific article published on 29 August 2014

Conserved Telomere Length in Human Ectopic Thyroids: An Argument Against Premature Differentiation Causing Arrested Migration

scientific article published on July 2015

Continuous Subcutaneous Insulin Infusion in Children: A Pilot Study Validating a Protocol to Avoid Hypoglycemia at Initiation.

scientific article published on 24 April 2017

Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing

scientific article published on 28 April 2016

Diagnosis, treatment and outcome of congenital hypothyroidism.

scientific article published on 29 August 2014

Discovery of a fetal goiter on prenatal ultrasound in women treated for Graves' disease: first, do no harm

scientific article published on 11 July 2011

Disorders of thyroid morphogenesis.

scientific article

Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations.

scientific article published on 14 November 2015

Ectopic thyroid gland causing dysphonia: imaging and molecular studies

scientific article published on 01 October 2010

Evidence for Calcitonin-Producing Cells in Human Lingual Thyroids

article

From Bioinactive ACTH to ACTH Antagonist: The Clinical Perspective.

scientific article published on 08 February 2017

Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis

scientific article

Has Triiodothyronine Treatment of Children after Cardiopulmonary Bypass Surgery Any Long-Term Effects?

scientific article published on 13 May 2015

Influence of Adiposity, Physical Activity, Fitness, and Screen Time on Insulin Dynamics Over 2 Years in Children.

scientific article published on 8 February 2016

Interpreting Minor Variations in Thyroid Function or Echostructure: Treating Patients, Not Numbers or Images.

scientific article published on 24 June 2015

Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec.

scientific article

Is ultrasonography useful in predicting thyroid cancer in children with thyroid nodules and apparently benign cytopathologic features?

scientific article

Linear association between household income and metabolic control in children with insulin-dependent diabetes mellitus despite free access to health care.

scientific article published on 28 March 2013

Molecular and cellular basis of isolated dominant-negative growth hormone deficiency, IGHD type II: insights on the secretory pathway of peptide hormones.

scientific article

Pediatric thyroidectomy: Favorable outcomes can be achieved by a multidisciplinary team of pediatric providers

scientific article published on 07 July 2018

Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C)

scientific article

Possible non-Mendelian mechanisms of thyroid dysgenesis.

scientific article published on January 2007

Prophylactic thyroidectomies in MEN2 syndrome: Management and outcomes

scientific article published on 13 November 2017

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies

scientific article published on 20 November 2007

Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Québec.

scientific article

Role for tissue-dependent methylation differences in the expression of FOXE1 in nontumoral thyroid glands

scientific article published on 19 March 2014

Short Stature Caused by a Biologically Inactive Mutant Growth Hormone (GH-C53S)

scientific article published on 15 February 2005

Similar age-dependent levothyroxine requirements of schoolchildren with congenital or acquired hypothyroidism.

scientific article published on 9 February 2016

Somatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesis.

scientific article published on 23 September 2014

Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome.

scientific article

The changing epidemiology of congenital hypothyroidism: fact or artifact?

scientific article published on 16 May 2014

Thyroid function from birth to adolescence in Prader-Willi syndrome.

scientific article published on 25 April 2013

Treating congenital hypothyroidism--which levothyroxine?

scientific article published on 05 March 2013

Variation by Ethnicity in the Prevalence of Congenital Hypothyroidism Due to Thyroid Dysgenesis ⬇️

scientific article published on November 8, 2010

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

scientific article published on 25 April 2022

Whole-exome sequencing: opportunities in pediatric endocrinology

scientific article published on 01 January 2014

Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism

scientific article published on 31 May 2019

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