Found: 52
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GH Treatment in Children of Normal Height.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 10, p. e1955, doi. 10.1210/clinem/dgae457
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- Publication type:
- Article
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. e1797, doi. 10.1210/clinem/dgac064
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- Publication type:
- Article
Long-Term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma after GnRHa Treatment: Anthropometric, Metabolic, and Reproductive Aspects.
- Published in:
- Neuroendocrinology, 2018, v. 106, n. 3, p. 203, doi. 10.1159/000477584
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- Publication type:
- Article
Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature.
- Published in:
- 2013
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- Publication type:
- Journal Article
Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 9, p. E1457, doi. 10.1210/jc.2011-0170
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- Publication type:
- Article
Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 4, p. E685, doi. 10.1210/jc.2010-1239
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- Publication type:
- Article
Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 11, p. E384, doi. 10.1210/jc.2010-1050
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- Publication type:
- Article
Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.
- Published in:
- 2010
- By:
- Publication type:
- journal article
The −202 A Allele of Insulin-Like Growth Factor Binding Protein-3 (IGFBP3) Promoter Polymorphism Is Associated with Higher IGFBP-3 Serum Levels and Better Growth Response to Growth Hormone Treatment in Patients with Severe Growth Hormone Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 2, p. 588, doi. 10.1210/jc.2008-1608
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- Publication type:
- Article
Polymorphisms Identified in the Upstream Core Polyadenylation Signal of IGF1 Gene Exon 6 Do Not Cause Pre- and Postnatal Growth Impairment.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 12, p. 4889, doi. 10.1210/jc.2007-1661
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- Publication type:
- Article
Allelic Variants of the γ-Aminobutyric Acid-A Receptor α1-Subunit Gene (GABRA1) Are Not Associated with Idiopathic Gonadotropin-Dependent Precocious Puberty in Girls with and without Electroencephalographic Abnormalities.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 6, p. 2432, doi. 10.1210/jc.2005-2657
- By:
- Publication type:
- Article
Growth Hormone (GH) Pharmacogenetics: Influence of GH Receptor Exon 3 Retention or Deletion on First-Year Growth Response and Final Height in Patients with Severe GH Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 3, p. 1076, doi. 10.1210/jc.2005-2005
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- Publication type:
- Article
A Single Luteinizing Hormone Determination 2 Hours after Depot Leuprolide Is Useful for Therapy Monitoring of Gonadotropin-Dependent Precocious Puberty in Girls.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 9, p. 4338, doi. 10.1210/jc.2003-031537
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- Publication type:
- Article
Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3241, doi. 10.1210/jc.2002-021658
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- Publication type:
- Article
Pituitary Magnetic Resonance Imaging and Function in Patients with Growth Hormone Deficiency with and without Mutations in GHRH-R, GH-1, or PROP-1 Genes.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 11, p. 5076, doi. 10.1210/jc.2001-011936
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- Publication type:
- Article
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
- Published in:
- 2002
- By:
- Publication type:
- journal article
An Unusual Phenotype of Frasier Syndrome due to IVS9 +4C>T Mutation in the WT1 Gene: Predominantly Male Ambiguous Genitalia and Absence of Gonadal Dysgenesis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2500, doi. 10.1210/jcem.87.6.8521
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- Publication type:
- Article
Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 4, p. 1805, doi. 10.1210/jcem.87.4.8379
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- Publication type:
- Article
Poor Reproducibility of IGF-I and IGF Binding Protein-3 Generation Test in Children with Short Stature and Normal Coding Region of the GH Receptor Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 2, p. 469, doi. 10.1210/jcem.87.2.8191
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- Publication type:
- Article
Origin of an Ovarian Steroid Cell Tumor Causing Isosexual Pseudoprecocious Puberty Demonstrated by the Expression of Adrenal Steroidogenic Enzymes and Adrenocorticotropin Receptor.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 3, p. 1211, doi. 10.1210/jcem.85.3.6454
- By:
- Publication type:
- Article
A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency.
- Published in:
- 1999
- By:
- Publication type:
- journal article
17b-Hydroxysteroid Dehydrogenase 3 Deficiency in Women.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 2, p. 802, doi. 10.1210/jcem.84.2.5477
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- Publication type:
- Article
Longitudinal Hormonal and Pituitary Imaging Changes in Two Females with Combined Pituitary Hormone Deficiency due to Deletion of A301,G302 in the PROP1 Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 3, p. 942, doi. 10.1210/jcem.84.3.5537
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- Publication type:
- Article
Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency*.
- Published in:
- 1998
- By:
- Publication type:
- journal article
The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 9, p. 3346, doi. 10.1210/jc.83.9.3346
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- Publication type:
- Article
Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 238, doi. 10.1159/000484882
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- Publication type:
- Article
Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.
- Published in:
- European Journal of Endocrinology, 2023, v. 189, n. 3, p. 387, doi. 10.1093/ejendo/lvad128
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- Publication type:
- Article
The phenotypic spectrum associated with OTX2 mutations in humans.
- Published in:
- European Journal of Endocrinology, 2021, v. 185, n. 1, p. 121, doi. 10.1530/EJE-20-1453
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- Publication type:
- Article
A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).
- Published in:
- European Journal of Endocrinology, 2016, v. 175, n. 2, p. K7, doi. 10.1530/EJE-15-0149
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- Publication type:
- Article
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.
- Published in:
- European Journal of Endocrinology, 2014, v. 171, n. 2, p. 253, doi. 10.1530/EJE-14-0232
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- Publication type:
- Article
Adrenal Nodules in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Regression after Adequate Hormonal Control.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 4, p. 415, doi. 10.1515/jpem.2001.14.4.415
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- Publication type:
- Article
Insulin-like Growth Factor-I Treatment in Two Children with Growth Hormone Gene Deletions.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 4, p. 499, doi. 10.1515/jpem.1999.12.4.499
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- Publication type:
- Article
Serum Inhibin Levels Before and After Gonadotropin Stimulation in Cryptorchid Boys Under Age 4 Years.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 6, p. 687, doi. 10.1515/jpem.1998.11.6.687
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- Publication type:
- Article
Clinical and Molecular Characterization of a Brazilian Patient with Pit-1 Deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 5, p. 623, doi. 10.1515/jpem.1998.11.5.623
- By:
- Publication type:
- Article
Long-Acting Gonadotropin-Releasing Hormone Agonists in the Differential Diagnosis of Male Precocious Puberty.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1997, v. 10, n. 5, p. 499
- By:
- Publication type:
- Article
PTPN11 (Protein Tyrosine Phosphatase, Nonreceptor Type 11) Mutations and Response to Growth Hormone Therapy in Children with Noonan Syndrome.
- Published in:
- IEEE Transactions on Software Engineering, 2005, v. 31, n. 9, p. 5156, doi. 10.1210/jc.2004-2559
- By:
- Publication type:
- Article
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
- Published in:
- Human Mutation, 1995, v. 6, n. 2, p. 152, doi. 10.1002/humu.1380060208
- By:
- Publication type:
- Article
Long‐term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
- Published in:
- Clinical Endocrinology, 2018, v. 89, n. 2, p. 164, doi. 10.1111/cen.13717
- By:
- Publication type:
- Article
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
- Published in:
- Clinical Endocrinology, 2018, v. 88, n. 3, p. 425, doi. 10.1111/cen.13535
- By:
- Publication type:
- Article
Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.
- Published in:
- Clinical Endocrinology, 2015, v. 82, n. 2, p. 274, doi. 10.1111/cen.12572
- By:
- Publication type:
- Article
Quality of life of patients with 46, XX and 46, XY disorders of sex development.
- Published in:
- Clinical Endocrinology, 2015, v. 82, n. 2, p. 159, doi. 10.1111/cen.12561
- By:
- Publication type:
- Article
Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p. Arg511 Trp).
- Published in:
- Clinical Endocrinology, 2013, v. 78, n. 4, p. 558, doi. 10.1111/cen.12048
- By:
- Publication type:
- Article
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
- Published in:
- Clinical Endocrinology, 2013, v. 78, n. 4, p. 551, doi. 10.1111/cen.12044
- By:
- Publication type:
- Article
46,XY disorders of sex development (DSD).
- Published in:
- 2009
- By:
- Publication type:
- Other
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
- Published in:
- Clinical Endocrinology, 2008, v. 69, n. 3, p. 426, doi. 10.1111/j.1365-2265.2008.03234.x
- By:
- Publication type:
- Article
Exon 3-deleted genotype of growth hormone receptor ( GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature.
- Published in:
- Clinical Endocrinology, 2007, v. 67, n. 4, p. 500, doi. 10.1111/j.1365-2265.2007.02915.x
- By:
- Publication type:
- Article
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
- Published in:
- Clinical Endocrinology, 2007, v. 66, n. 1, p. 130, doi. 10.1111/j.1365-2265.2006.02698.x
- By:
- Publication type:
- Article