ArticleAmerican journal of human genetics1990
Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.
Article in American journal of human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 112 citations in OpenAlex.
- Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Pediatric surgery international · 2012Review
- Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.Pigment cell & melanoma research · 2008Review
- Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.Journal of medical genetics · 1998Article
- IRS-PCR-based genetic mapping of the huntingtin interacting protein gene (HIP1) on mouse chromosome 5.Mammalian genome : official journal of the International Mammalian Genome Society · 1998Article
- Waardenburg syndrome.Journal of medical genetics · 1997Review
- The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).Journal of medical genetics · 1997Review
- Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.American journal of human genetics · 1996Article
- Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.Journal of medical genetics · 1995Article
- The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3.Molecular and cellular biology · 1995Article
- Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.American journal of human genetics · 1994Article
- Molecular basis of splotch and Waardenburg Pax-3 mutations.Proceedings of the National Academy of Sciences of the United States of America · 1994Article
- Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).American journal of human genetics · 1993Article
- Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.Nature genetics · 1993Article
- Mapping of the human homologs of the murine paired-box-containing genes.Mammalian genome : official journal of the International Mammalian Genome Society · 1993Article
- Genetic deafness.Journal of medical genetics · 1992Review
- Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.The Journal of clinical investigation · 1992Article
- Genetic counseling for deaf adults: Communication/language and cultural considerations.Journal of genetic counseling · 1992Article
- Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.American journal of human genetics · 1992Article
- Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.Journal of medical genetics · 1992Review
- Sensorineural deafness inherited as a tissue specific mitochondrial disorder.Journal of medical genetics · 1992Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have demonstrated close linkage between the locus for the autosomal dominant Waardenburg syndrome type I and the placental alkaline phosphatase locus on chromosome 2q37. In five families the peak lod score was 4.76 at a recombination fraction of .023. In the mouse the Splotch locus maps to near the homologous position. Splotch mice have white spotting and hearing defects, suggesting that Splotch may be the murine homologue of Waardenburg syndrome type I.
Indexed as
Identifiers
2339698PMC1683816W263280644What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.