Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis.

The Journal of clinical endocrinology and metabolism - 1 Aug 1996

Quinton R, Duke V M, de Zoysa P A, Platts A D, Valentine A, Kendall B, Pickman S, Kirk J M, Besser G M, Jacobs H S, Bouloux P M

Abstract excerpt

A detailed neurological investigation of patients with Kallmann's syndrome (KS) has been performed in an attempt to relate phenotypic characterization with genotype. Twenty-seven subjects with KS were studied (including 12 males with X-linked disease and 3 females). Six male and 2 female normosmics with isolated GnRH deficiency, 1 male with KS variant, and 1 obligate female carrier were also imaged. Evidence for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Magnetic Resonance Imaging

Share to Molecular Probes

Share to Molecular Sequence Data

Share to Movement Disorders

Share to Phenotype

Source

Identifiers

PMID: 8768867
DOI: 10.1210/jcem.81.8.8768867

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis.PMID 8768867Read ↗

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.Semantic proximity Read ↗

X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.Semantic proximity Read ↗

The Importance of Autosomal Genes in Kallmann Syndrome: Genotype-Phenotype Correlations and Neuroendocrine CharacteristicsSemantic proximity Read ↗

X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.Semantic proximity Read ↗

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.Semantic proximity Read ↗

A molecular approach to the pathophysiology of the X chromosome-linked Kallmann's syndrome.Semantic proximity Read ↗

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.Semantic proximity Read ↗

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditionsSemantic proximity Read ↗

Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene.Semantic proximity Read ↗

Mutation analysis of the KAL gene in female patients with gonadotropin-releasing hormone deficiency.Semantic proximity Read ↗

Renal abnormalities in patients with Kallmann syndrome.Semantic proximity Read ↗

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.