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Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Assessment of relevant hepatic steatosis in obese adolescents by rapid fat-selective GRE imaging with spatial-spectral excitation: a quantitative comparison with spectroscopic findings.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 12, p. 1455, doi. 10.15252/emmm.201606623
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- Publication type:
- Article
Relationship of Salivary and Plasma Cortisol Levels in Preterm Infants: Results of a Prospective Observational Study and Systematic Review of the Literature.
- Published in:
- Neonatology (16617800), 2014, v. 105, n. 4, p. 312, doi. 10.1159/000357555
- By:
- Publication type:
- Article
Silver-Russell syndrome: genetic basis and molecular genetic testing.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Silver-Russell syndrome: genetic basis and molecular genetic testing.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 19, doi. 10.1186/1750-1172-5-19
- By:
- Publication type:
- Article
A role for helix 3 of the TRß ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone.
- Published in:
- EMBO Journal, 1998, v. 17, n. 16, p. 4760, doi. 10.1093/emboj/17.16.4760
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- Publication type:
- Article
Impact of Newborn Screening on Adult Height in Patients With Congenital Adrenal Hyperplasia (CAH).
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. e1199, doi. 10.1210/clinem/dgad307
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- Publication type:
- Article
Diabetes screening in overweight and obese children and adolescents: choosing the right test.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Changes in whole-body fat distribution, intrahepatic lipids, and insulin resistance of obese adolescents during a low-level lifestyle intervention.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Harmonization of growth hormone measurements with different immunoassays by data adjustment.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 7, p. 1135, doi. 10.1515/CCLM.2011.201
- By:
- Publication type:
- Article
No Major Contribution of IGF2 Variants to the Etiology of Sporadic 11p15-Associated Imprinting Disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 283, doi. 10.1002/ajmg.a.37416
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- Publication type:
- Article
Adrenarche in Silver-Russell Syndrome: Timing and Consequences.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Anti-mullerian hormone deficiency in girls with congenital multiple pituitary hormone deficiency.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Aromatase Excess Syndrome: Identification of Cryptic Duplications and Deletions Leading to Gain of Function of CYP19A1 and Assessment of Phenotypic Determinants.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 6, p. E1035, doi. 10.1210/jc.2011-0145
- By:
- Publication type:
- Article
Validation of automatic bone age determination in children with congenital adrenal hyperplasia.
- Published in:
- Pediatric Radiology, 2013, v. 43, n. 12, p. 1615, doi. 10.1007/s00247-013-2744-8
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- Publication type:
- Article
Comparison of radiogrammetrical metacarpal indices in children and reference data from the First Zurich Longitudinal Study.
- Published in:
- Pediatric Radiology, 2012, v. 42, n. 8, p. 982, doi. 10.1007/s00247-012-2390-6
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- Publication type:
- Article
Clinical application of automated Greulich-Pyle bone age determination in children with short stature.
- Published in:
- Pediatric Radiology, 2009, v. 39, n. 6, p. 598, doi. 10.1007/s00247-008-1114-4
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- Publication type:
- Article
Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts' consensus.
- Published in:
- Molecular & Cellular Pediatrics, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40348-020-00108-2
- By:
- Publication type:
- Article
Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- Published in:
- Molecular & Cellular Pediatrics, 2020, v. 7, n. 1, p. 1, doi. 10.1186/s40348-020-00100-w
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- Publication type:
- Article
Very High Dehydroepiandrosterone Sulfate (DHEAS) in Serum of an Overweight Female Adolescent Without a Tumor.
- Published in:
- Frontiers in Endocrinology, 2020, v. 11, p. 1, doi. 10.3389/fendo.2020.00240
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- Publication type:
- Article
Eating Disorder Pathology in Adolescents Participating in a Lifestyle Intervention for Obesity: Associations with Weight Change, General Psychopathology and Health-Related Quality of Life.
- Published in:
- Obesity Facts: The European Journal of Obesity, 2013, v. 6, n. 4, p. 307, doi. 10.1159/000354534
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- Publication type:
- Article
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.
- Published in:
- Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-023-01453-5
- By:
- Publication type:
- Article
Phenotype Selection Reveals Coevolution of Muscle Glycogen and Protein and PTEN as a Gate Keeper for the Accretion of Muscle Mass in Adult Female Mice.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0039711
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- Publication type:
- Article
The Growth Hormone Deficiency (GHD) Reversal Trial: effect on final height of discontinuation versus continuation of growth hormone treatment in pubertal children with isolated GHD—a non-inferiority Randomised Controlled Trial (RCT).
- Published in:
- Trials, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13063-023-07562-z
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- Publication type:
- Article
The Endocrine Phenotype in Silver-Russell Syndrome Is Defined by the Underlying Epigenetic Alteration.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 4, p. 1402, doi. 10.1210/jc.2007-1897
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- Publication type:
- Article
The A645D Mutation in the Hinge Region of the Human Androgen Receptor (AR) Gene Modulates AR Activity, Depending on the Context of the Polymorphic Glutamine and Glycine Repeats.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 9, p. 3515, doi. 10.1210/jc.2006-0372
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- Publication type:
- Article
Isolated Autosomal Dominant Growth Hormone Deficiency: An Evolving Pituitary Deficit? A Multicenter Follow-Up Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 4, p. 2089, doi. 10.1210/jc.2004-1280
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- Publication type:
- Article
SHOX Haploinsufficiency and Leri-Weill Dyschondrosteosis: Prevalence and Growth Failure in Relation to Mutation, Sex, and Degree of Wrist Deformity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 9, p. 4403, doi. 10.1210/jc.2004-0591
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- Publication type:
- Article
Auxology Is a Valuable Instrument for the Clinical Diagnosis of SHOX Haploinsufficiency in School-Age Children with Unexplained Short Stature.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 10, p. 4891, doi. 10.1210/jc.2003-030136
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- Publication type:
- Article
Mechanisms Responsible for Dominant Expression of Human Growth Hormone Gene Mutations.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 11, p. 4047, doi. 10.1210/jc.81.11.4047
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- Publication type:
- Article
Increase of jump performance during GH treatment in short children born SGA.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1122287
- By:
- Publication type:
- Article
IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 328, doi. 10.1038/sj.ejhg.5201974
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- Publication type:
- Article
Normal bone density but altered geometry in girls with Turner syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 3, p. 270, doi. 10.1515/jpem-2022-0516
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- Publication type:
- Article
Basal characteristics and first year responses to human growth hormone (GH) vary according to diagnostic criteria in children with non-acquired GH deficiency (naGHD): observations from a single center over a period of five decades.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 11, p. 1257, doi. 10.1515/jpem-2018-0025
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- Publication type:
- Article
Resting energy expenditure in girls with Turner syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 3, p. 327, doi. 10.1515/jpem-2016-0295
- By:
- Publication type:
- Article
Schoolchildren born VLBW or VLGA show height-related changes in body composition and muscle function but no evidence of metabolic syndrome risk factors. Results from the NEOLONG study.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 2, p. 163, doi. 10.1515/jpem-2015-0266
- By:
- Publication type:
- Article
Validation of automatic bone age rating in children with precocious and early puberty.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 11/12, p. 1009, doi. 10.1515/JPEM.2011.420
- By:
- Publication type:
- Article
LOT1 (ZAC1/PLAGL1) as Member of an Imprinted Gene Network Does Not Harbor Silver-Russell Specific Variants.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 6, p. 555
- By:
- Publication type:
- Article
Are H19 Variants Associated with Silver-Russell Syndrome?
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 10, p. 985
- By:
- Publication type:
- Article
No Evidence for Additional Imprinting Defects in Silver-Russell Syndrome Patients with Maternal Uniparental Disomy 7 or 11p15 Epimutation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2007, v. 20, n. 12, p. 1329, doi. 10.1515/jpem.2007.20.12.1329
- By:
- Publication type:
- Article
Screening for Insulin-like Growth Factor-I Receptor Mutations in Patients with Silver-Russell Syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2002, v. 15, n. 8, p. 1167, doi. 10.1515/jpem.2002.15.8.1167
- By:
- Publication type:
- Article
Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children: A Bayesian Meta-Analysis.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children: A Bayesian Meta-Analysis.
- Published in:
- American Journal of Epidemiology, 2012, v. 175, n. 9, p. 867, doi. 10.1093/aje/kwr408
- By:
- Publication type:
- Article
Arginine‐stimulated copeptin in children and adolescents.
- Published in:
- Clinical Endocrinology, 2023, v. 98, n. 4, p. 548, doi. 10.1111/cen.14880
- By:
- Publication type:
- Article
GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 3, p. 150, doi. 10.1159/000503783
- By:
- Publication type:
- Article
A New Model of Adult Height Prediction Validated in Boys with Constitutional Delay of Growth and Puberty.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 3, p. 186, doi. 10.1159/000499712
- By:
- Publication type:
- Article
Biological Significance of Anti-GH Antibodies in Children Treated with rhGH.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 1, p. 17, doi. 10.1159/000497409
- By:
- Publication type:
- Article
The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 88, n. 3/4, p. 201, doi. 10.1159/000477666
- By:
- Publication type:
- Article
Levothyroxine Treatment of Euthyroid Children with Autoimmune Hashimoto Thyroiditis: Results of a Multicenter, Randomized, Controlled Trial.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 4, p. 266, doi. 10.1159/000437140
- By:
- Publication type:
- Article