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Article

Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.

American journal of medical genetics. Part A - 1 Dec 2004

Gould Douglas B, Walter Michael A

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Source

Identifiers

PMID: 15487006
DOI: 10.1002/ajmg.a.30227

Genes

BARHL1
BARX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome.PMID 15487006Read ↗

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single centerSemantic proximity Read ↗

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The major gene for Bardet-Biedl syndrome is BBS1.Semantic proximity Read ↗

Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.Semantic proximity Read ↗

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.Semantic proximity Read ↗

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.Semantic proximity Read ↗

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.Semantic proximity Read ↗

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.Semantic proximity Read ↗

NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.Semantic proximity Read ↗

Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene.Semantic proximity Read ↗

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.Semantic proximity Read ↗

Mild adrenal insufficiency due to a NROB1 (DAX1) gene mutation in a boy presenting an association of hypogonadotropic hypogonadism, reduced final height and attention deficit disorder.Semantic proximity Read ↗

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