ArticleJournal of medical genetics1993
Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 26 citations in OpenAlex.
- Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.Journal of medical genetics · 1997Article
- Chromosome 22q11 deletion presenting as the Potter sequence.Journal of medical genetics · 1997Article
- The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease.European journal of pediatrics · 1996Article
- Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.Human genetics · 1996Article
- 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.Human genetics · 1995Article
- Velocardiofacial syndrome and DiGeorge sequence.Journal of medical genetics · 1994Article
- CATCH 22.Journal of medical genetics · 1993Article
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
End fragment cloning from a YAC at the D22S134 locus allowed the isolation of a new probe HD7k. This marker detects hemizygosity in two patients previously shown to be dizygous for D22S134. This positions the distal deletion breakpoint in these patients to the sequences within the YAC, and confirms that HD7k is proximal to D22S134. In a search for coding sequences within the region commonly deleted in DGS we have identified a conserved sequence at D22S134. Although no cDNAs have yet been isolated, genomic sequencing shows a short open reading frame with weak similarity to collagen proteins.
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