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Calcareous nannofossils, biostratigraphy, and paleobiogeography of the Aptian/Albian Romualdo Formation in the Araripe Basin, North-Eastern Brazil.
- Published in:
- Brazilian Journal of Geology, 2023, v. 53, n. 2, p. 1, doi. 10.1590/2317-4889202320220054
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- Publication type:
- Article
GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 3967, doi. 10.1093/hmg/ddac093
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- Publication type:
- Article
Quantification of serum thyroid hormones using tandem mass spectrometry in patients with Down syndrome.
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- Biomedical Chromatography, 2022, v. 36, n. 1, p. 1, doi. 10.1002/bmc.5249
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- Publication type:
- Article
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1067, doi. 10.1002/ajmg.a.62063
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- Publication type:
- Article
Metreleptin worked in a diabetic woman with a history of hematopoietic stem cell transplantation (HSCT) during infancy: further support for the concept of 'HSCT-associated lipodystrophy'.
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- Endocrine Journal, 2021, v. 68, n. 4, p. 399
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- Publication type:
- Article
A Coleção Paleontológica do Museu de Ciências Naturais e de História Barra do Jardim da Fundação Francisco de Lima Botelho, Jardim, Ceará, Brasil.
- Published in:
- Anuario do Instituto de Geociencias, 2021, v. 44, p. 1, doi. 10.11137/1982-3908_2021_44_35670
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- Publication type:
- Article
Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
- Published in:
- 2020
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- Publication type:
- journal article
Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.
- Published in:
- 2019
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- Publication type:
- journal article
Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 2, p. 191, doi. 10.1515/jpem-2018-0464
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- Publication type:
- Article
Spontaneous virilization around puberty in NR5A1- related 46,XY sex reversal: additional case and a literature review.
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- Endocrine Journal, 2018, v. 65, n. 12, p. 1187, doi. 10.1507/endocrj.ej18-0218
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- Publication type:
- Article
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.
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- European Journal of Endocrinology, 2018, v. 178, n. 2, p. 137, doi. 10.1530/EJE-16-1049
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- Publication type:
- Article
Partial lipodystrophy in patients who have undergone hematopoietic stem cell transplantation during childhood: an institutional cross-sectional survey.
- Published in:
- Clinical Pediatric Endocrinology, 2017, v. 26, n. 2, p. 99, doi. 10.1297/cpe.26.99
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- Publication type:
- Article
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immunoosseous dysplasia?
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- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0519-7
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- Publication type:
- Article
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
- Published in:
- 2016
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- Publication type:
- journal article
Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report.
- Published in:
- Clinical Pediatric Endocrinology, 2016, v. 25, n. 3, p. 91, doi. 10.1297/cpe.25.91
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- Publication type:
- Article
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.
- Published in:
- 2015
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- Publication type:
- journal article
Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 5, p. 349, doi. 10.1159/000438672
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- Publication type:
- Article
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2430, doi. 10.1002/ajmg.a.37193
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- Publication type:
- Article
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 553, doi. 10.1038/jhg.2015.53
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- Publication type:
- Article
The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism.
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- Thyroid Research, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13044-015-0023-5
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- Publication type:
- Article
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.
- Published in:
- Clinical Pediatric Endocrinology, 2015, v. 24, n. 1, p. 27, doi. 10.1297/cpe.24.27
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- Publication type:
- Article
Heterozygous defects in PAX6 gene and congenital hypopituitarism.
- Published in:
- European Journal of Endocrinology, 2015, v. 172, n. 1, p. 37, doi. 10.1530/EJE-14-0255
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- Publication type:
- Article
Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement.
- Published in:
- Endocrine Journal, 2014, v. 61, n. 10, p. 1025, doi. 10.1507/endocrj.ej14-0143
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- Publication type:
- Article
Discordant Genotype-Phenotype Correlation in Familial Hyperaldosteronism Type III with KCNJ5 Gene Mutation: A Patient Report and Review of the Literature.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 2, p. 138, doi. 10.1159/000358197
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- Publication type:
- Article
A Novel Mutation in SOX2 Causes Hypogonadotropic Hypogonadism with Mild Ocular Malformation.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 2, p. 133, doi. 10.1159/000355279
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- Publication type:
- Article
Neonatal case of classic maple syrup urine disease: Usefulness of <sup>1</sup>H-MRS in early diagnosis.
- Published in:
- Pediatrics International, 2014, v. 56, n. 1, p. 112, doi. 10.1111/ped.12211
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- Publication type:
- Article
Therapeutic Use of Oral Sodium Phosphate (Phosribbon® Combination Granules) in Hereditary Hypophosphatemic Rickets.
- Published in:
- Clinical Pediatric Endocrinology, 2014, v. 23, n. 1, p. 9, doi. 10.1297/cpe.23.9
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- Publication type:
- Article
Classic Bartter syndrome complicated with profound growth hormone deficiency.
- Published in:
- 2013
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- Publication type:
- Abstract
Bone marrow transplantation in Schimke immuno-osseous dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2609, doi. 10.1002/ajmg.a.36111
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- Publication type:
- Article
Abnormal Adipose Tissue Distribution with Unfavorable Metabolic Profile in Five Children Following Hematopoietic Stem Cell Transplantation: A New Etiology for Acquired Partial Lipodystrophy.
- Published in:
- Clinical Pediatric Endocrinology, 2013, v. 22, n. 4, p. 53, doi. 10.1297/cpe.22.53
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- Publication type:
- Article
Association Between Graves' Disease and Renal Coloboma Syndrome: A Case Report.
- Published in:
- Clinical Pediatric Endocrinology, 2013, v. 22, n. 3, p. 45, doi. 10.1297/cpe.22.45
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- Publication type:
- Article
Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.
- Published in:
- 2013
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- Publication type:
- Case Study
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 5, p. 625, doi. 10.1530/EJE-12-0410
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- Publication type:
- Article
Long-Term 3,5,3′-Triiodothyroacetic Acid Therapy in a Child with Hyperthyroidism Caused by Thyroid Hormone Resistance: Pharmacological Study and Therapeutic Recommendations.
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- Thyroid, 2012, v. 22, n. 10, p. 1069, doi. 10.1089/thy.2011.0450
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- Publication type:
- Article
Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046008
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- Publication type:
- Article
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1982, doi. 10.1002/ajmg.a.35440
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- Publication type:
- Article
Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper.
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- European Journal of Endocrinology, 2012, v. 166, n. 5, p. 829, doi. 10.1530/EJE-11-0653
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- Publication type:
- Article
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 70, doi. 10.1186/1750-1172-7-70
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- Publication type:
- Article
PAX8 Mutation Disturbing Thyroid Follicular Growth: A Case Report.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 12, p. E2039, doi. 10.1210/jc.2011-1114
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- Publication type:
- Article
Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 11, p. E1838, doi. 10.1210/jc.2011-1573
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- Publication type:
- Article
Nonclassic TSH Resistance: TSHR Mutation Carriers with Discrepantly High Thyroidal Iodine Uptake.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 8, p. E1340, doi. 10.1210/jc.2011-0070
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- Publication type:
- Article
Schimke immunoosseous dysplasia: defining skeletal features.
- Published in:
- 2010
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- Publication type:
- journal article
Increased Na reabsorption via the Na–Cl cotransporter in autosomal recessive pseudohypoaldosteronism.
- Published in:
- Clinical & Experimental Nephrology, 2010, v. 14, n. 3, p. 228, doi. 10.1007/s10157-010-0277-0
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- Publication type:
- Article
Growth Hormone Response to GH-Releasing Peptide-2 in Children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 5, p. 473, doi. 10.1515/jpem.2010.078
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- Publication type:
- Article
Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 4, p. 1981, doi. 10.1210/jc.2009-2373
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- Publication type:
- Article
Unfavorable lipoprotein profile in childhood cancer survivors with suprasellar brain tumors—a high Apo B level and increased small dense LDL-cholesterol.
- Published in:
- Child's Nervous System, 2009, v. 25, n. 6, p. 669, doi. 10.1007/s00381-009-0837-3
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- Publication type:
- Article
TSHR Mutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 4, p. 1317, doi. 10.1210/jc.2008-1767
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- Publication type:
- Article
Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a.
- Published in:
- International Journal of Endocrinology, 2009, p. 1, doi. 10.1155/2009/931057
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- Publication type:
- Article
Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 920, doi. 10.1210/jc.2007-1419
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- Publication type:
- Article
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
- Published in:
- Human Mutation, 2007, v. 28, n. 3, p. 273, doi. 10.1002/humu.20432
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- Publication type:
- Article