Found: 17
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Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.
- Published in:
- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10598-3
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- Article
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
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- Science Translational Medicine, 2022, v. 14, n. 665, p. 1, doi. 10.1126/scitranslmed.abh2369
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- Article
Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
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- Neuroendocrinology, 2021, v. 111, n. 1/2, p. 99, doi. 10.1159/000506640
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- Article
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
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- Endocrine Reviews, 2019, v. 40, n. 2, p. 669, doi. 10.1210/er.2018-00116
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- Article
A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.
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- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 1, p. 49, doi. 10.6065/apem.2019.24.1.49
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- Article
The Reduction of Visceral Adipose Tissue after Roux-en-Y Gastric Bypass Is more Pronounced in Patients with Impaired Glucose Metabolism.
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- Obesity Surgery, 2018, v. 28, n. 12, p. 4006, doi. 10.1007/s11695-018-3455-x
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- Article
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
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- European Journal of Endocrinology, 2018, v. 178, n. 4, p. 377, doi. 10.1530/EJE-17-0568
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- Article
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 2, p. 359, doi. 10.1093/hmg/ddx408
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- Publication type:
- Article
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
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- EMBO Molecular Medicine, 2017, v. 9, n. 10, p. 1379, doi. 10.15252/emmm.201607376
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- Article
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
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- 2007
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- Publication type:
- journal article
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
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- 2005
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- Publication type:
- journal article
GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone.
- Published in:
- 2004
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- Publication type:
- journal article
GNRHR Mutations in a Woman with Idiopathic Hypogonadotropic Hypogonadism Highlight the Differential Sensitivity of Luteinizing Hormone and Follicle-Stimulating Hormone to Gonadotropin-Releasing Hormone.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 7, p. 3189, doi. 10.1210/jc.2003-031808
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- Article
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).
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- Journal of Human Genetics, 2004, v. 49, n. 5, p. 265, doi. 10.1007/s10038-004-0137-4
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- Article
A Locus for Autosomal Recessive Idiopathic Hypogonadotropic Hypogonadism on Chromosome 19p13.3
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 6, p. 2947, doi. 10.1210/jc.2003-030423
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- Article
Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.
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- 2002
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- Publication type:
- journal article
Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans.
- Published in:
- BMC Genomics, 2002, v. 3, p. 1
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- Publication type:
- Article