Associated Papers
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
Hong S et al.
Human Molecular Genetics, 2016
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
Pineda-Alvarez DE et al.
American Journal of Medical Genetics. Part A, 2011
Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).
Mercier S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2010
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
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
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