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Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by TPIT Gene Mutations
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 7, p. 1323, doi. 10.1210/jc.2004-1300
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- Publication type:
- Article
Population-based TSH Screening of Newborns for Hyperthyroidism: It May Be Feasible, but Is It Justified?
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 6, p. e2630, doi. 10.1210/clinem/dgac124
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- Publication type:
- Article
Redefining Congenital Hypothyroidism?
- Published in:
- 2021
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- Publication type:
- journal article
Similar age-dependent levothyroxine requirements of schoolchildren with congenital or acquired hypothyroidism.
- Published in:
- 2016
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- Publication type:
- journal article
Dépistage néonatal de l'hypothyroïdie congénitale et de l'hyperplasie congénitale des surrénales: Bénéfices et coûts d'un programme de santé publique à succès.
- Published in:
- Médecine Sciences, 2021, v. 37, n. 5, p. 528, doi. 10.1051/medsci/2021053
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- Publication type:
- Article
Role for tissue-dependent methylation differences in the expression of FOXE1 in nontumoral thyroid glands.
- Published in:
- 2014
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- Publication type:
- journal article
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.
- Published in:
- 2014
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- Publication type:
- journal 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?
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- 2012
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- Publication type:
- journal article
Muscle-bone characteristics in children with Prader-Willi syndrome.
- Published in:
- 2012
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- Publication type:
- journal article
Severe Cortisol Deficiency Associated with Reversible Growth Hormone Deficiency in Two Infants: What Is the Link?
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 9, p. 2670, doi. 10.1210/jc.2011-0129
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- Publication type:
- Article
Is the Incidence of Congenital Hypothyroidism Really Increasing? A 20-Year Retrospective Population-Based Study in Québec.
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- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 8, p. 2422, doi. 10.1210/jc.2011-1073
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- Publication type:
- Article
The Continuing Health Burden of Congenital Hypothyroidism in the Era of Neonatal Screening.
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- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 6, p. 1671, doi. 10.1210/jc.2011-0687
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- Publication type:
- Article
Why Should Orchidopexy Be Performed in Congenital Hypogonadotropic Hypogonadism, and When?
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 299, doi. 10.1159/000530520
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- Publication type:
- Article
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
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- 2009
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- Publication type:
- journal article
Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 1, p. 197, doi. 10.1210/jc.2008-1402
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- Publication type:
- Article
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
- Published in:
- 2008
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- Publication type:
- journal article
Pseudodominant Inheritance of Goitrous Congenital Hypothyroidism Caused by TPO Mutations: Molecular and in Silico Studies.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 2, p. 627, doi. 10.1210/jc.2007-2276
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- Publication type:
- Article
Random Variability in Congenital Hypothyroidism from Thyroid Dysgenesis over 16 Years in Québec.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 8, p. 3158, doi. 10.1210/jc.2007-0527
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- Publication type:
- Article
Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
- Published in:
- 2007
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- Publication type:
- journal article
Autosomal Dominant Resistance to Thyrotropin as a Distinct Entity in Five Multigenerational Kindreds: Clinical Characterization and Exclusion of Candidate Loci.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 7, p. 4025, doi. 10.1210/jc.2005-0572
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- Publication type:
- Article
Primary Adrenal Insufficiency in Children: Twenty Years Experience at the Sainte-Justine Hospital, Montreal.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 3243, doi. 10.1210/jc.2004-0016
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- Publication type:
- Article
Sexual Dimorphism of Thyroid Function in Newborns with Congenital Hypothyroidism.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 5, p. 2696, doi. 10.1210/jc.2004-2320
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- Publication type:
- Article
Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by TPIT Gene Mutations.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 3, p. 1323, doi. 10.1210/jc.2004-1300
- By:
- Publication type:
- Article
Sex-Specific Impact of Congenital Hypothyroidism due to Thyroid Dysgenesis on Skeletal Maturation in Term Newborns.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 5, p. 2009, doi. 10.1210/jc.2002-021735
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- Publication type:
- Article
A Novel A10E Homozygous Mutation in the HSD3B2 Gene Causing Severe Salt-Wasting 3 b-Hydroxysteroid Dehydrogenase Deficiency in 46,XX and 46,XY French-Canadians: Evaluation of Gonadal Function after Puberty.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 5, p. 1968, doi. 10.1210/jcem.85.5.6581
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- Publication type:
- Article
A Search for the Possible Molecular Mechanisms of Thyroid Dysgenesis: Sex Ratios and Associated Malformations.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 7, p. 2502, doi. 10.1210/jcem.84.7.5831
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- Publication type:
- Article
Diversity and Prevalence of Somatic Mutations in the Thyrotropin Receptor and Gsα Genes as a Cause of Toxic Thyroid Adenomas.
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- Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 8, p. 2695, doi. 10.1210/jcem.82.8.4144
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- Publication type:
- Article
Outcome of Severe Congenital Hypothyroidism: Closing the Developmental Gap with Early High Dose Levothyroxine Treatment.
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- Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 1, p. 222, doi. 10.1210/jc.81.1.222
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- Publication type:
- Article
Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 3, p. 1, doi. 10.1210/jendso/bvaa183
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- Publication type:
- Article
Thyrotropin Screening of Newborns: Before or After 72 Hours of Life? Before Discharge or at Home?
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- Thyroid, 2023, v. 33, n. 11, p. 1311, doi. 10.1089/thy.2023.0114
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- Publication type:
- Article
Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism.
- Published in:
- Thyroid, 2019, v. 29, n. 7, p. 1018, doi. 10.1089/thy.2018.0461
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- Publication type:
- Article
Demonstration of Autosomal Monoallelic Expression in Thyroid Tissue Assessed by Whole-Exome and Bulk RNA Sequencing.
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- Thyroid, 2016, v. 26, n. 6, p. 852, doi. 10.1089/thy.2016.0009
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- Publication type:
- Article
Quality of referral of short children to the paediatric endocrinologist and impact of a fax communication system.
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- Paediatrics & Child Health (1205-7088), 2013, v. 18, n. 10, p. 533, doi. 10.1093/pch/18.10.533
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- Publication type:
- Article
Outcome after Bariatric Surgery in Two Adolescents with Hypothalamic Obesity Following Treatment of Craniopharyngioma.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 9, p. 867, doi. 10.1515/JPEM.2009.22.9.867
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- Publication type:
- Article
Meeting Report: Measuring Endocrine-Sensitive Endpoints within the First Years of Life.
- Published in:
- Environmental Health Perspectives, 2008, v. 116, n. 7, p. 948, doi. 10.1289/ehp.11226
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- Publication type:
- Article
Hypothyroidism due to biallelic variants in IYD: description of 4 families and a novel variant.
- Published in:
- European Journal of Endocrinology, 2024, v. 191, n. 2, p. K5, doi. 10.1093/ejendo/lvae100
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- Publication type:
- Article
Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?
- Published in:
- European Journal of Endocrinology, 2017, v. 177, n. 5, p. D1, doi. 10.1530/EJE-17-0107
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- Publication type:
- Article
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.
- Published in:
- 2017
- By:
- Publication type:
- Opinion
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
- Published in:
- European Journal of Endocrinology, 2006, p. S3, doi. 10.1530/eje.1.02235
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- Publication type:
- Article
Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone.
- Published in:
- BMC Pediatrics, 2011, v. 11, n. 1, p. 49, doi. 10.1186/1471-2431-11-49
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- Publication type:
- Article
Growth Hormone Supplementation and Psychosocial Functioning to Adult Height in Turner Syndrome: A Questionnaire Study of Participants in the Canadian Randomized Trial.
- Published in:
- Frontiers in Endocrinology, 2019, p. N.PAG, doi. 10.3389/fendo.2019.00125
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- Publication type:
- Article
Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Congenital Hypothyroidism: Long-Term Experience with Early and High Levothyroxine Dosage.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 85, n. 3, p. 188, doi. 10.1159/000443958
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- Publication type:
- Article
Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 2, p. 79, doi. 10.1159/000365393
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- Publication type:
- Article
Autonomous Adenomas Caused by Somatic Mutations of the Thyroid-Stimulating Hormone Receptor in Children.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 2, p. 73, doi. 10.1159/000357143
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- Publication type:
- Article
European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 2, p. 80, doi. 10.1159/000358198
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- Publication type:
- Article
Is Ultrasonography Useful in Predicting Thyroid Cancer in Children with Thyroid Nodules and Apparently Benign Cytopathologic Features?
- Published in:
- Hormone Research in Paediatrics, 2011, v. 75, n. 4, p. 269, doi. 10.1159/000322877
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- Publication type:
- Article
Therapeutic Approach of Fetal Thyroid Disorders.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 74, n. 1, p. 1, doi. 10.1159/000297595
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- Publication type:
- Article
Conserved Telomere Length in Human Ectopic Thyroids: An Argument Against Premature Differentiation Causing Arrested Migration.
- Published in:
- Thyroid, 2015, v. 25, n. 9, p. 1050, doi. 10.1089/thy.2015.0204
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- Publication type:
- Article
Discovery of a Fetal Goiter on Prenatal Ultrasound in Women Treated for Graves' Disease: First, Do No Harm.
- Published in:
- Thyroid, 2011, v. 21, n. 8, p. 931, doi. 10.1089/thy.2011.0066
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- Publication type:
- Article