Lista de obras -

A Neonatal Form of Isolated ACTH Deficiency Frequently Associated with Tpit Gene Mutations

article

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 mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene

artículo científico publicado en 1997

A search for variables predicting cortisol response to low-dose corticotropin stimulation following supraphysiological doses of glucocorticoids

artículo científico publicado en 2013

Abstracts Of The Meeting On Obesity Organized By The Contact Groups « Hormones » and « Nutrition » of Frsm/Fwgo On February 23, 1985 In Brussels Effect Of Growth Hormone Releasing Factor (Grf) On Plasma Growth Hormone (Gh) And Prolactin (Prl) Levels

artículo científico publicado en 1985

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

artículo científico publicado en 2005

Androgens and fetal growth.

artículo científico publicado en 1998

Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.

artículo científico publicado en 2007

Are guidelines for glucocorticoid coverage in adrenal insufficiency currently followed?

artículo científico publicado en 2010

Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? A debate.

artículo científico publicado en 2017

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

Avoiding the Overdiagnosis of Congenital Hypothyroidism in Premature Newborns

scientific article published on 16 July 2019

Bioinactive ACTH causing glucocorticoid deficiency

artículo científico publicado en 2013

Cause of dwarfism in Mauriac syndrome ⬇️

artículo científico publicado el 1 de mayo de 1981

Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia

scientific article published on 25 October 2020

Clinical case seminar in pediatric thyroid disease.

artículo científico publicado en 2014

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism

artículo científico publicado en 2006

Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine

artículo científico publicado en 2004

Cold thyroid nodules in childhood: is surgery always necessary?

scientific article published on 01 July 1987

Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signs

artículo científico publicado en 2009

Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism

artículo científico publicado en 2010

Congenital Hypothyroidism: Long-Term Experience with Early and High Levothyroxine Dosage.

artículo científico publicado en 2016

Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained byTPITGene Mutations

artículo científico publicado en 2004

Congenital hypopituitarism: results of pituitary stimulation tests and of magnetic resonance imaging in a newborn girl

artículo científico publicado en 1992

Congenital hypothyroidism

artículo científico publicado en 2006

Congenital hypothyroidism: from paracelsus to molecular diagnosis

artículo científico publicado en 2006

Congenital hypothyroidism: look at the whole patient! Editorial comment on the paper by El Kholy et al. in this issue

artículo científico publicado en 2007

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

artículo científico publicado en 2015

Contribution of thyroid ultrasound and serum calcitonin to the diagnosis of congenital hypothyroidism

artículo científico publicado en 1990

Counselling of a couple faced with a prenatal diagnosis of Klinefelter syndrome

artículo científico publicado en 2011

Decreased growth hormone response to glucagon in infants after an apnea of infancy

artículo científico publicado en 1998

Decreased growth hormone response to growth hormone-releasing hormone in Turner's syndrome: relation to body weight and adiposity.

artículo científico publicado en 1991

Decreasing sex difference in birth weight

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Development of the thyroid gland: lessons from congenitally hypothyroid mice and men.

artículo científico publicado en 2003

Diagnosis, treatment and outcome of congenital hypothyroidism.

artículo científico

Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology.

artículo científico publicado en 2002

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

artículo científico publicado en 2011

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

artículo científico publicado en 2005

Does growth-hormone supplementation affect adult height in Turner's syndrome?

artículo científico publicado en 1996

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

artículo científico publicado en 2015

Effect of growth hormone-releasing factor on plasma growth hormone, prolactin and somatomedin C in hypopituitary and short normal children

artículo científico publicado en 1985

Evaluation and significance of the degree of pituitary-gonadal inhibition during intranasal administration of buserelin.

artículo científico publicado en 1987

Experience With Store-and-Forward Consultations in Providing Access to Pediatric Endocrine Consultations in Low- and Middle-Income Countries

artículo científico publicado en 2019

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

artículo científico publicado en 2013

Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

artículo científico publicado en 2009

Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism.

artículo científico publicado en 2009

Growth Hormone Supplementation and Psychosocial Functioning to Adult Height in Turner Syndrome: A Questionnaire Study of Participants in the Canadian Randomized Trial

article

Growth hormone supplementation in Turner's syndrome

artículo científico publicado en 1998

Growth-stimulating effects of human growth hormone therapy in patients with Turner syndrome

artículo científico publicado en 1986

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

article

Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone ⬇️

artículo científico publicado el 29 de mayo de 2011

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

artículo científico publicado en 2011

How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia?

artículo científico publicado en 2007

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency

artículo científico publicado en 2003

Hypergonadotropic hypogonadism in a boy with Fanconi anemia with growth hormone deficiency and pituitary stalk interruption

artículo científico publicado en 2002

Hypothalamo-pituitary dysfunction in congenital toxoplasmosis

scientific article published on 01 August 1989

IGF-I transcript levels in whole-liver tissue, in freshly isolated hepatocytes, and in cultured hepatocytes from lean and obese Zucker rats

artículo científico publicado en 2003

Impact of patient characteristics and clinical factors on the decision to initiate growth hormone treatment in Turner syndrome

artículo científico publicado en 2008

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism ⬇️

scientific article published on 09 October 2009

Inhibition of growth hormone response in angiomatous lymphoid hamartoma

artículo científico publicado en 1982

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

Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene

artículo científico publicado en 2008

Leydig cell tumors in children: contrasting clinical, hormonal, anatomical, and molecular characteristics in boys and girls

artículo científico

Longitudinal study of thyroid function in Down's syndrome in the first two decades

artículo científico publicado en 2005

Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia

artículo científico publicado en 2004

Low somatomedin-C (Sm-C) concentrations measured by direct radioimmunoassay in patients with chronic renal failure.

artículo científico publicado en 1987

Meeting report: measuring endocrine-sensitive endpoints within the first years of life.

artículo científico publicado en 2008

Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype

artículo científico publicado en 2009

Muscle-bone characteristics in children with Prader-Willi syndrome.

artículo científico publicado en 2011

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2013

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

artículo científico publicado en 2014

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

artículo científico publicado en 2008

Non-immune goiter and hypothyroidism in a 19-week fetus: a plea for conservative treatment

artículo científico publicado en 2010

Normal minipuberty of infancy in boys with Prader-Willi syndrome

artículo científico publicado en 2006

Outcome after bariatric surgery in two adolescents with hypothalamic obesity following treatment of craniopharyngioma

artículo científico publicado en 2009

Outcome in three siblings with antibody-mediated transient congenital hypothyroidism ⬇️

artículo científico publicado el 1 de agosto de 1995

Panhypopituitarism without diabetes insipidus: magnetic resonance imaging of pituitary stalk transection

artículo científico publicado en 1990

Partnering with parents to disclose Klinefelter syndrome to their child

artículo científico publicado en 2015

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

artículo científico publicado en 2010

Plasma gonadotropin values in prepubertal cryptorchid boys: Similar increase of FSH secretion in uni- and bilateral cases ⬇️

artículo científico publicado el 1 de agosto de 1980

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis

artículo científico publicado en 2007

Possible non-Mendelian mechanisms of thyroid dysgenesis.

artículo científico publicado en 2007

Premature Ovarian Failure in French Canadian Leigh Syndrome

artículo científico publicado en 2017

Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?

artículo científico publicado en 2011

Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal

artículo científico publicado en 2005

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

artículo científico publicado en 2007

Quality of referral of short children to the paediatric endocrinologist and impact of a fax communication system

scientific article published on December 2013

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

artículo científico publicado en 2007

Redefining congenital hypothyroidism?

artículo científico publicado en 2020

Reference intervals for free thyroxine, total triiodothyronine, thyrotropin and thyroglobulin for Quebec newborns, children and teenagers

artículo científico publicado en 2004

Reply

Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader-Willi syndrome

artículo científico publicado en 2008

Rising serum thyroxine levels and chorea in graves' disease

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Screening for neonatal endocrinopathies: rationale, methods and results

artículo científico publicado en 2004

Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?

scientific article published on 13 July 2011

Sex-specific impact of congenital hypothyroidism due to thyroid dysgenesis on skeletal maturation in term newborns

artículo científico publicado en 2003

Sexual dimorphism of thyroid function in newborns with congenital hypothyroidism

artículo científico publicado en 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

Studies with growth hormone releasing factor in children: diagnostic and therapeutic implications

artículo científico publicado en 1988

Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome.

artículo científico publicado en 2015

Sudden death in growth hormone-treated children with Prader-Willi syndrome

artículo científico publicado en 2004

The changing epidemiology of congenital hypothyroidism: fact or artifact?

scientific article published on 16 May 2014

The continuing health burden of congenital hypothyroidism in the era of neonatal screening

scientific article published on 01 June 2011

Therapeutic approach of fetal thyroid disorders

artículo científico publicado en 2010

Thyroid dyshormonogenesis: severe hypothyroidism after normal neonatal thyroid stimulating hormone screening

artículo científico publicado el 1 de marzo de 1992

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

artículo científico publicado en 2013

Thyroid scintigraphy in children and adolescents with Hashimoto disease

scientific article published on 01 December 1995

Total synthesis of insulin-like growth factor I (somatomedin C).

artículo científico publicado en 1983

Treating congenital hypothyroidism--which levothyroxine?

scientific article published on 05 March 2013

Treating fetal thyroid and adrenal disorders through the mother

artículo científico publicado en 2008

Treatment of Turner syndrome with growth hormone

artículo científico publicado en 1993

Treatment of central precocious puberty with an intranasal analogue of GnRH (Buserelin)

scientific article published on 01 November 1987

Treatment of congenital hypothyroidism

artículo científico publicado en 2001

Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism

scientific article published on 01 September 2004

Undetectable AMH at 3 days of age: a clue to bilateral anorchia

artículo científico publicado en 2010

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

artículo científico publicado el 8 de noviembre de 2010

Very low birth weight newborns do not need repeat screening for congenital hypothyroidism

artículo científico publicado en 2002

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

A Neonatal Form of Isolated ACTH Deficiency Frequently Associated with Tpit Gene Mutations

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 mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene

A search for variables predicting cortisol response to low-dose corticotropin stimulation following supraphysiological doses of glucocorticoids

Abstracts Of The Meeting On Obesity Organized By The Contact Groups « Hormones » and « Nutrition » of Frsm/Fwgo On February 23, 1985 In Brussels Effect Of Growth Hormone Releasing Factor (Grf) On Plasma Growth Hormone (Gh) And Prolactin (Prl) Levels

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

Androgens and fetal growth.

Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.

Are guidelines for glucocorticoid coverage in adrenal insufficiency currently followed?

Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? A debate.

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.

Avoiding the Overdiagnosis of Congenital Hypothyroidism in Premature Newborns

Bioinactive ACTH causing glucocorticoid deficiency

Cause of dwarfism in Mauriac syndrome ⬇️

Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia

Clinical case seminar in pediatric thyroid disease.

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism

Cognition and behavior at school entry in children with congenital hypothyroidism treated early with high-dose levothyroxine

Cold thyroid nodules in childhood: is surgery always necessary?

Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signs

Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism

Congenital Hypothyroidism: Long-Term Experience with Early and High Levothyroxine Dosage.

Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained byTPITGene Mutations

Congenital hypopituitarism: results of pituitary stimulation tests and of magnetic resonance imaging in a newborn girl

Congenital hypothyroidism

Congenital hypothyroidism: from paracelsus to molecular diagnosis

Congenital hypothyroidism: look at the whole patient! Editorial comment on the paper by El Kholy et al. in this issue

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

Contribution of thyroid ultrasound and serum calcitonin to the diagnosis of congenital hypothyroidism

Counselling of a couple faced with a prenatal diagnosis of Klinefelter syndrome

Decreased growth hormone response to glucagon in infants after an apnea of infancy

Decreased growth hormone response to growth hormone-releasing hormone in Turner's syndrome: relation to body weight and adiposity.

Decreasing sex difference in birth weight

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

Development of the thyroid gland: lessons from congenitally hypothyroid mice and men.

Diagnosis, treatment and outcome of congenital hypothyroidism.

Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology.

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

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

Does growth-hormone supplementation affect adult height in Turner's syndrome?

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

Effect of growth hormone-releasing factor on plasma growth hormone, prolactin and somatomedin C in hypopituitary and short normal children

Evaluation and significance of the degree of pituitary-gonadal inhibition during intranasal administration of buserelin.

Experience With Store-and-Forward Consultations in Providing Access to Pediatric Endocrine Consultations in Low- and Middle-Income Countries

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism.

Growth Hormone Supplementation and Psychosocial Functioning to Adult Height in Turner Syndrome: A Questionnaire Study of Participants in the Canadian Randomized Trial

Growth hormone supplementation in Turner's syndrome

Growth-stimulating effects of human growth hormone therapy in patients with Turner syndrome

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone ⬇️

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia?

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency

Hypergonadotropic hypogonadism in a boy with Fanconi anemia with growth hormone deficiency and pituitary stalk interruption

Hypothalamo-pituitary dysfunction in congenital toxoplasmosis

IGF-I transcript levels in whole-liver tissue, in freshly isolated hepatocytes, and in cultured hepatocytes from lean and obese Zucker rats

Impact of patient characteristics and clinical factors on the decision to initiate growth hormone treatment in Turner syndrome

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism ⬇️

Inhibition of growth hormone response in angiomatous lymphoid hamartoma

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?

Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene

Leydig cell tumors in children: contrasting clinical, hormonal, anatomical, and molecular characteristics in boys and girls

Longitudinal study of thyroid function in Down's syndrome in the first two decades

Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia

Low somatomedin-C (Sm-C) concentrations measured by direct radioimmunoassay in patients with chronic renal failure.

Meeting report: measuring endocrine-sensitive endpoints within the first years of life.

Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype

Muscle-bone characteristics in children with Prader-Willi syndrome.

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

Non-immune goiter and hypothyroidism in a 19-week fetus: a plea for conservative treatment

Normal minipuberty of infancy in boys with Prader-Willi syndrome

Outcome after bariatric surgery in two adolescents with hypothalamic obesity following treatment of craniopharyngioma