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Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 2, p. 380, doi. 10.1210/clinem/dgad533
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- Publication type:
- Article
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. e1580, doi. 10.1210/clinem/dgad373
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- Publication type:
- Article
Phenotyping children and adolescents with obesity using behavioral, psychological, and familial data.
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- Obesity (19307381), 2023, v. 31, n. 12, p. 3016, doi. 10.1002/oby.23893
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- Article
Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34963-6
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- Publication type:
- Article
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30968-3
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- Publication type:
- Article
Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 4, p. e1577, doi. 10.1210/clinem/dgab838
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- Publication type:
- Article
Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height.
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- Journal of Bone & Mineral Research, 2021, v. 36, n. 12, p. 2300, doi. 10.1002/jbmr.4408
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- Article
Growth Hormone Stimulation Testing Patterns Contribute to Sex Differences in Pediatric Growth Hormone Treatment.
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- Hormone Research in Paediatrics, 2021, v. 94, n. 9/10, p. 353, doi. 10.1159/000520250
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- Article
The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect.
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- Arthritis Research & Therapy, 2021, v. 23, n. 1, p. 1, doi. 10.1186/s13075-021-02444-8
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- Article
Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness".
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- 2021
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- Publication type:
- letter
A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness.
- Published in:
- 2020
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- Publication type:
- journal article
Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 15, p. 2625, doi. 10.1093/hmg/ddaa103
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- Publication type:
- Article
Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15193-0
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- Publication type:
- Article
Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain.
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- PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0222445
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- Publication type:
- Article
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
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- Hormone Research in Paediatrics, 2019, v. 92, n. 3, p. 186, doi. 10.1159/000504884
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- Publication type:
- Article
Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 7, p. 2961, doi. 10.1210/jc.2018-02657
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- Publication type:
- Article
Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease.
- Published in:
- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0361-2
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- Publication type:
- Article
Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.
- Published in:
- 2019
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- Publication type:
- journal article
PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data.
- Published in:
- PLoS Computational Biology, 2019, v. 15, n. 1, p. 1, doi. 10.1371/journal.pcbi.1006734
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- Publication type:
- Article
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
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- Human Molecular Genetics, 2019, v. 28, n. 1, p. 166, doi. 10.1093/hmg/ddy327
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- Publication type:
- Article
Insights and Implications of Genome-Wide Association Studies of Height.
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- 2018
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- Publication type:
- journal article
Fluid Balance Is Associated with Clinical Outcomes and Extravascular Lung Water in Children with Acute Asthma Exacerbation.
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- 2018
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- Publication type:
- journal article
Gene-Environment Interactions Associated with the Severity of Acute Asthma Exacerbation in Children.
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- 2018
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- Publication type:
- editorial
Genetic Evidence That Carbohydrate-Stimulated Insulin Secretion Leads to Obesity.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 1, p. 192, doi. 10.1373/clinchem.2017.280727
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- Publication type:
- Article
Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing.
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- Hormone Research in Paediatrics, 2017, v. 87, n. 4, p. 264, doi. 10.1159/000448754
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- Publication type:
- Article
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.
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- Hormone Research in Paediatrics, 2017, v. 87, n. 3, p. 1, doi. 10.1159/000452888
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- Article
Omalizumab Is Associated with Reduced Acute Severity of Rhinovirus-triggered Asthma Exacerbation.
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- 2016
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- Publication type:
- journal article
Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic.
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- Clinical Pediatrics, 2016, v. 55, n. 12, p. 1152, doi. 10.1177/0009922815621331
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- Publication type:
- Article
Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram.
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- Human Molecular Genetics, 2016, v. 25, n. 10, p. 2093, doi. 10.1093/hmg/ddw058
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- Publication type:
- Article
Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes.
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- Human Molecular Genetics, 2016, v. 25, n. 6, p. 1247, doi. 10.1093/hmg/ddw007
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- Publication type:
- Article
Genetic Evidence for a Causal Role of Obesity in Diabetic Kidney Disease.
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- 2015
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- Publication type:
- journal article
Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity.
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- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6849, doi. 10.1093/hmg/ddv379
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- Article
Small island, big genetic discoveries.
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- Nature Genetics, 2015, v. 47, n. 11, p. 1224, doi. 10.1038/ng.3426
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- Article
Population genetic differentiation of height and body mass index across Europe.
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- Nature Genetics, 2015, v. 47, n. 11, p. 1357, doi. 10.1038/ng.3401
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- Article
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.
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- Nature Genetics, 2015, v. 47, n. 8, p. 921, doi. 10.1038/ng.3340
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- Article
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.
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- 2015
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- Publication type:
- journal article
Heterozygous Mutations in Natriuretic Peptide Receptor-B ( NPR2) Gene as a Cause of Short Stature.
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- Human Mutation, 2015, v. 36, n. 4, p. 474, doi. 10.1002/humu.22773
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- Article
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.
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- 2015
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- Publication type:
- journal article
SNPsnap: a Web-based tool for identification and annotation of matched SNPs.
- Published in:
- Bioinformatics, 2015, v. 31, n. 3, p. 418, doi. 10.1093/bioinformatics/btu655
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- Publication type:
- Article
Gene expression analysis identifies global gene dosage sensitivity in cancer.
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- Nature Genetics, 2015, v. 47, n. 2, p. 115, doi. 10.1038/ng.3173
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- Publication type:
- Article
Biological interpretation of genome-wide association studies using predicted gene functions.
- Published in:
- Nature Communications, 2015, v. 6, n. 1, p. 5890, doi. 10.1038/ncomms6890
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- Publication type:
- Article
A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype.
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- Hormone Research in Paediatrics, 2014, v. 82, n. 5, p. 344, doi. 10.1159/000368192
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- Article
Genetic evaluation of short stature.
- Published in:
- 2014
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- Publication type:
- journal article
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
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- Nature Genetics, 2014, v. 46, n. 9, p. 957, doi. 10.1038/ng.3063
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- Article
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
- Published in:
- 2014
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- Publication type:
- journal article
Whole Exome Sequencing to Identify Genetic Causes of Short Stature.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 1, p. 44, doi. 10.1159/000360857
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- Publication type:
- Article
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2880, doi. 10.1093/hmg/ddu001
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- 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
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- Publication type:
- journal article
A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.
- Published in:
- 2014
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- Publication type:
- journal article
Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2519, doi. 10.1002/ajmg.a.36128
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- Publication type:
- Article