Lista de obras -

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

artículo científico publicado en 2012

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?

artículo científico publicado en 2012

A novel presentation of diffuse lung disease caused by congenital hypothyroidism

artículo científico publicado en 2009

Are guidelines for glucocorticoid coverage in adrenal insufficiency currently followed?

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Clinical case seminar in pediatric thyroid disease.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2016

Diagnosis, treatment and outcome of congenital hypothyroidism.

artículo científico

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

artículo científico publicado en 2011

Disorders of thyroid morphogenesis.

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2002

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)

artículo científico publicado en 1998

Possible non-Mendelian mechanisms of thyroid dysgenesis.

artículo científico publicado en 2007

Prophylactic thyroidectomies in MEN2 syndrome: Management and outcomes

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome.

artículo científico publicado en 2015

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.

artículo científico publicado en 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 ⬇️

artículo científico publicado el 8 de noviembre de 2010

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

artículo científico publicado en 2022

Whole-exome sequencing: opportunities in pediatric endocrinology

artículo científico publicado en 2014

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

scientific article published on 31 May 2019

Lista de obras de

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

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?

A novel presentation of diffuse lung disease caused by congenital hypothyroidism

Are guidelines for glucocorticoid coverage in adrenal insufficiency currently followed?

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.

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

Clinical case seminar in pediatric thyroid disease.

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

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

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

Diagnosis, treatment and outcome of congenital hypothyroidism.

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

Disorders of thyroid morphogenesis.

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

Ectopic thyroid gland causing dysphonia: imaging and molecular studies

Evidence for Calcitonin-Producing Cells in Human Lingual Thyroids

From Bioinactive ACTH to ACTH Antagonist: The Clinical Perspective.

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

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

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

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

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

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

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

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

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

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)

Possible non-Mendelian mechanisms of thyroid dysgenesis.

Prophylactic thyroidectomies in MEN2 syndrome: Management and outcomes

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

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

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

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

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

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

Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome.

The changing epidemiology of congenital hypothyroidism: fact or artifact?

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

Treating congenital hypothyroidism--which levothyroxine?

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

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

Whole-exome sequencing: opportunities in pediatric endocrinology

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