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

Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5.

Genomics - 1 Mar 2000

Orti R, Rachidi M, Vialard F, Toyama K, Lopes C, Taudien S, Rosenthal A, Yaspo M L, Sinet P M, Delabar J M

Abstract excerpt

Phenotypic and molecular analyses of patients with partial chromosome 21 monosomy enabled us to define a region, spanning 2.4 Mb between D21S190 and D21S226, associated with arthrogryposis, mental retardation, hypertonia, and several facial anomalies. The markers of the region were used to screen a total human PAC library (Ioannou, RZPD). We isolated 57 PACs, which formed primary contigs. EST clusters (UNIGENE...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Northern
Share to Chromosomes, Human, Pair 21

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA, Complementary

Share to Embryo, Mammalian

Share to Monosomy

Share to Nucleic Acid Hybridization

Share to Open Reading Frames

Share to Tissue Distribution

Source

Identifiers

PMID: 10729227
DOI: 10.1006/geno.1999.6109

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5.PMID 10729227Read ↗

C11orf21, a novel gene within the Beckwith-Wiedemann syndrome region in human chromosome 11p15.5.Semantic proximity Read ↗

A gene expression map of human chromosome 21 orthologues in the mouseSemantic proximity Read ↗

Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome "critical region".Semantic proximity Read ↗

The DNA sequence of human chromosome 21.Semantic proximity Read ↗

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.Semantic proximity Read ↗

A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region.Semantic proximity Read ↗

A non-mosaic humanized mouse model of Down syndrome, trisomy of a nearly complete long arm of human chromosome 21 in mouse chromosome backgroundSemantic proximity Read ↗

Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation.Semantic proximity Read ↗

Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer DiseaseSemantic proximity Read ↗

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.Semantic proximity Read ↗

Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions.Semantic proximity Read ↗

Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp).Semantic proximity Read ↗

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