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

Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1.

The Journal of clinical endocrinology and metabolism - 1 Nov 2000

Chabre O, Portrat-Doyen S, Chaffanjon P, Vivier J, Liakos P, Labat-Moleur F, Chambaz E, Morel Y, Defaye G

Abstract excerpt

We present an in vivo and in vitro study of congenital adrenal hyperplasia in a patient with 11beta-hydroxylase deficiency. Sequencing of the CYP11B1 gene showed two new base substitutions, a conservative 954 G-->C transversion at the last base of exon 5 (T318T), and a IVS8 + 4A-->G transition in intron 8. In addition, two polymorphisms were found in exons 1 and 2. The genetically female patient was raised as a...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Glands
Share to Adrenalectomy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adrenocorticotropic Hormone

Share to Disorders of Sex Development

Share to Laparoscopy

Share to Mineralocorticoids

Share to Steroid 11-beta-Hydroxylase

Source

Identifiers

PMID: 11095433
DOI: 10.1210/jcem.85.11.6897

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1.PMID 11095433Read ↗

Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.Semantic proximity Read ↗

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.Semantic proximity Read ↗

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.Semantic proximity Read ↗

Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by CYP11B gene mutation.Semantic proximity Read ↗

Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in theCYP11B1GeneSemantic proximity Read ↗

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.Semantic proximity Read ↗

Novel CYP11B1 Mutations in Congenital Adrenal Hyperplasia due to Steroid 11β-Hydroxylase DeficiencySemantic proximity Read ↗

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).Semantic proximity Read ↗

Mutations in CYP11B1 gene: phenotype-genotype correlations.Semantic proximity Read ↗

Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients.Semantic proximity Read ↗

Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH).Semantic proximity Read ↗

Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase DeficiencySemantic proximity Read ↗

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