A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

No abstract is available for this paper.

• Publication year

  2000

• Venue

  European Journal of Human Genetics

• Publication date

  2000-10-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/sj.ejhg.5200540PMID 11039582
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Holoprosencephaly: molecular study of a California population.

  2000cited by this paper
• Sequence and location of SIX3, a homeobox gene expressed in the human eye.

  1999cited by this paper
• Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

  1999cited by this paper
• Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.

  1999cited by this paper
• The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

  1999cited by this paper
• Molecular mechanisms of holoprosencephaly.

  1999cited by this paper
• Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.

  1999cited by this paper
• Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

  1999cited by this paper
• Holoprosencephaly: A paradigm for the complex genetics of brain development

  1998cited by this paper
• Segregation analysis in nonsyndromic holoprosencephaly.

  1998cited by this paper
• Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development.

  1995cited by this paper
• Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection.

  1994cited by this paper

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  2018cites this paper
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  2010cites this paper
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  2010cites this paper
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  2009cites this paper
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  2009cites this paper
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  2009cites this paper
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  2008cites this paper
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  2008cites this paper
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  2008cites this paper
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  2007cites this paper
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  2007cites this paper
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  2007cites this paper
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  2007cites this paper
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  2006cites this paper
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  2006cites this paper
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  2006influential citation
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  2005cites this paper
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  2005cites this paper
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  2004cites this paper
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  2004cites this paper
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  2004cites this paper
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