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Ectopic adrenocortical adenoma characterized by hypogonadism: a case report and review of the literature.
- Published in:
- 2024
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- Publication type:
- Case Study
A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report.
- Published in:
- 2024
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- Publication type:
- Case Study
Why Should Orchidopexy Be Performed in Congenital Hypogonadotropic Hypogonadism, and When?
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- Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 299, doi. 10.1159/000530520
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- Article
Gender-Diverse Youth with Turner Syndrome: Special Management Considerations.
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- JCEM Case Reports, 2024, v. 2, n. 5, p. 1, doi. 10.1210/jcemcr/luae076
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- Article
Successful treatment of recurrent visceral leishmaniasis relapse in an immunocompetent adult female with functional hypopituitarism in Bangladesh.
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- PLoS Neglected Tropical Diseases, 2024, v. 18, n. 4, p. 1, doi. 10.1371/journal.pntd.0012134
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- Article
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.
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- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1343977
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- Article
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.
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- Cerebellum, 2024, v. 23, n. 2, p. 688, doi. 10.1007/s12311-023-01549-x
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- Article
Smelling TNT: Trends of the Terminal Nerve.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 3920, doi. 10.3390/ijms25073920
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- Article
A Challenging Case of Diabetes in a Patient With XXYY Syndrome.
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- JCEM Case Reports, 2024, v. 2, n. 4, p. 1, doi. 10.1210/jcemcr/luae014
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- Publication type:
- Article
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1354715
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- Article
Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.
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- JCEM Case Reports, 2024, v. 2, n. 3, p. 1, doi. 10.1210/jcemcr/luae028
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- Publication type:
- Article
Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment.
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- Children, 2024, v. 11, n. 2, p. 153, doi. 10.3390/children11020153
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- Publication type:
- Article
Fertility outcomes in male adults with congenital hypogonadotropic hypogonadism treated during puberty with human chorionic gonadotropin and recombinant follicle stimulating hormone.
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- Journal of Paediatrics & Child Health, 2024, v. 60, n. 2/3, p. 53, doi. 10.1111/jpc.16540
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- Publication type:
- Article
P-51 Association of Bardet-Biedl syndrome with differences of sex development and pituitary hypoplasia.
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- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.053
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- Publication type:
- Article
(328) The Relationship Between Multiple Myeloma and Hypogonadism: A Systematic Review.
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- Journal of Sexual Medicine, 2024, p. 1, doi. 10.1093/jsxmed/qdae001.313
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- Publication type:
- Article
Microdissection testicular sperm extraction outcomes in azoospermic patients with bilateral orchidopexy.
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- Andrology, 2024, v. 12, n. 1, p. 157, doi. 10.1111/andr.13463
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- Publication type:
- Article
Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis.
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- European Journal of Endocrinology, 2024, v. 190, n. 1, p. S1, doi. 10.1093/ejendo/lvad166
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- Publication type:
- Article
CARDIOVASCULAR CHARACTERISTICS IN PATIENTS WITH PRADER-WILLI SYNDROME.
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- Internal Medicine / Medicină Internă, 2024, v. 21, n. 1, p. 49, doi. 10.2478/inmed-2024-0277
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- Publication type:
- Article
Clinical management of nonobstructive azoospermia: An update.
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- International Journal of Urology, 2024, v. 31, n. 1, p. 17, doi. 10.1111/iju.15301
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- Publication type:
- Article
TESTOSTERONE LEVELS AMONG CASES OF DIABETES MELLITUS AND RISK OF METABOLIC SYNDROME AMONG MEN WITH HYPOGONADISM: A CROSS SECTIONAL STUDY.
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- Journal of Cardiovascular Disease Research (Journal of Cardiovascular Disease Research), 2024, v. 15, n. 1, p. 1173
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- Publication type:
- Article
Nasal Reconstruction in a Rare Case of Unilateral Arhinia in Bosma Arhinia Microphthalmia Syndrome.
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- Turkish Journal of Plastic Surgery, 2024, v. 32, n. 1, p. 38, doi. 10.4103/tjps.tjps_53_23
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- Publication type:
- Article
A novel compound variant in GNRHR causing congenital idiopathic hypogonadotropic hypogonadism in a young male Korean patient.
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- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, p. S20, doi. 10.6065/apem.2244070.035
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- Publication type:
- Article
Overweight and obesity in children and adolescents with endocrine disorders.
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- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2023, v. 167, n. 4, p. 328, doi. 10.5507/bp.2023.036
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- Publication type:
- Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
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- Article
Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1248231
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- Publication type:
- Article
Venous thromboembolism in Klinefelter syndrome: a clot in the knowledge?
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- Trends in Urology & Men's Health, 2023, v. 14, n. 6, p. 23, doi. 10.1002/tre.945
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- Article
Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report.
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- BMC Endocrine Disorders, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12902-023-01455-7
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- Publication type:
- Article
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
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- Human Genetics, 2023, v. 142, n. 10, p. 1499, doi. 10.1007/s00439-023-02581-x
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- Article
From Nose to Lumbar Spinal Cord – Reduced Sperm Numbers Occur by Olfactory Bulbectomy-Related Onuf's Nucleus Degeneration: New Experimental Evidence for Kallmann Syndrome.
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- Neuroendocrinology, 2023, v. 113, n. 10, p. 1051, doi. 10.1159/000531962
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- Article
Rathke's cleft cyst discovered with ruptured anterior communicating artery aneurysm: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1226839
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- Publication type:
- Article
Gastric Pneumatosis and Its Gastrofibroscopic Findings in LifeThreatening Superior Mesenteric Artery Syndrome Complicated by Anorexia Nervosa in a Child.
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- Pediatric Gastroenterology, Hepatology & Nutrition, 2023, v. 26, n. 5, p. 284, doi. 10.5223/pghn.2023.26.5.284
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- Publication type:
- Article
SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome.
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- Neuroendocrinology, 2023, v. 113, n. 8, p. 834, doi. 10.1159/000529615
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- Publication type:
- Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
- By:
- Publication type:
- Article
Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-38017-9
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- Publication type:
- Article
Primary ovarian insufficiency.
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- Canadian Medical Association Journal (CMAJ), 2023, v. 195, n. 28, p. E956, doi. 10.1503/cmaj.221712
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- Publication type:
- Article
Cortical interneuron development is affected in 4H leukodystrophy.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2846, doi. 10.1093/brain/awad017
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- Publication type:
- Article
Plasma metabolomics in male primary and functional hypogonadism.
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- Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1165741
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- Publication type:
- Article
A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant.
- Published in:
- 2023
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- Publication type:
- Case Study
Sex differences in the coexpression of prokineticin receptor 2 and gonadal steroids receptors in mice.
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- Frontiers in Neuroanatomy, 2023, v. 16, p. 1, doi. 10.3389/fnana.2022.1057727
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- Publication type:
- Article
Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants.
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- Genes, 2023, v. 14, n. 6, p. 1204, doi. 10.3390/genes14061204
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- Publication type:
- Article
Successful pregnancy and delivery after ovulation induction therapy in a woman with congenital hypogonadotropic hypogonadism: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7428, doi. 10.3390/ijms24087428
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- Publication type:
- Article
Reconsidering the olfactory and brain structures in Kallmann's syndrome: New findings in the analysis of volumetry.
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- Clinical Endocrinology, 2023, v. 98, n. 4, p. 554, doi. 10.1111/cen.14868
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- Publication type:
- Article
Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1133492
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- Publication type:
- Article
Estradiol treatment in a large cohort of younger women with congenital hypogonadism: how much is enough?
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- Clinical Endocrinology, 2023, v. 98, n. 3, p. 454, doi. 10.1111/cen.14845
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- Publication type:
- Article
Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.
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- Reproductive Biology & Endocrinology, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12958-023-01074-w
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- Publication type:
- Article
Endocrine complications of anorexia nervosa.
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- Journal of Eating Disorders, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40337-023-00744-9
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- Publication type:
- Article
Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.
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- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1132787
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- Publication type:
- Article
Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.
- Published in:
- Biomedicines, 2023, v. 11, n. 2, p. 242, doi. 10.3390/biomedicines11020242
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- Publication type:
- Article