Associated Papers
Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.
Choi SA et al.
Clinical and Experimental Pediatrics, 2026
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.
Roessler E et al.
Molecular Genetics and Metabolism, 2012
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Lacbawan F et al.
Journal of Medical Genetics, 2009
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Domené S et al.
Human Molecular Genetics, 2008
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Jeong Y et al.
Nature Genetics, 2008
Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
Geng X et al.
Developmental Cell, 2008
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.
Pasquier L et al.
Journal of Medical Genetics, 2005
Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.
Laflamme C et al.
Human Mutation, 2004
Six family genes--structure and function as transcription factors and their roles in development.
Kawakami K et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2000
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
Wallis DE et al.
Nature Genetics, 1999
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