Reference health
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
15/15 checkable references clean · checked 2026-08-25
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
5 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 15 checked references that resolve
resolves10.1002/tera.1420400304
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology
resolves10.1023/A:1005406719292
Holoprosencephaly: A paradigm for the complex genetics of brain development
resolves10.1093/hmg/5.2.223
Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21
resolves10.1016/0896-6273(94)90308-5
The drosophila sine oculis locus encodes a homeodomain-containing protein required for the development of the entire visual system
resolves10.1093/genetics/138.4.1137
sine oculis is a homeobox gene required for Drosophila visual system development.
resolves10.1016/0014-5793(96)00899-X
Identification and expression of <i>six</i> family genes in mouse retina
resolves10.1016/S0925-4773(98)00055-0
Six3, a medaka homologue of the Drosophila homeobox gene sine oculis is expressed in the anterior embryonic shield and the developing eye
resolves10.1016/S0925-4773(98)00028-8
Expression of two zebrafish homologues of the murine Six3 gene demarcates the initial eye primordia
resolves10.1073/pnas.95.18.10643
The
<i>Optx</i>
<i>2</i>
homeobox gene is expressed in early precursors of the eye and activates retina-specific genes
resolves10.1073/pnas.83.9.2850
Influences of mRNA secondary structure on initiation by eukaryotic ribosomes.
resolves10.1242/dev.121.12.4045
<i>Six3</i>
, a murine homologue of the
<i>sine oculis</i>
gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development
resolves10.1093/hmg/6.11.1781
Reciprocal Effect of Waardenburg Syndrome Mutations on DNA Binding by the Pax-3 Paired Domain and Homeodomain
resolves10.1073/pnas.94.22.11974
Mouse
<i>Eya</i>
genes are expressed during limb tendon development and encode a transcriptional activation function
resolves10.1126/science.2294592
High-Resolution Mapping of Human Chromosome 11 by in Situ Hybridization with Cosmid Clones
resolves10.1016/0888-7543(90)90442-W
Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation
The 5 references without a DOI — listed, not checked
no DOI — not checkedCohen, M.M. Perspectives on holoprosencephaly. Part III. Spectra, distinctions, continuities, and discontinuities. Am. J. Med. Genet. 34, 371–388 (1989).
no DOI — not checkedCohen, M.M. & Sulik, K.K. Perspectives on holoprosencephaly. Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J. Craniofac. Genet. Dev. Biol. 12, 196–244 (1992).
no DOI — not checkedBurglin, T.R. The evolution of homeobox genes. in Biodiversity and Evolution (eds Arari, R. & Doi, Y.) 291–336 (The National Science Museum Foundation, Tokyo, 1995).
no DOI — not checkedBovolenta, P., Mallamaci, A. & Boncinelli, E. Cloning and characterization of two chick homeobox genes, members of the Six/sine oculis family, expressed during eye development. Int. J. Dev. Biol. 1 (suppl.), 738–748 (1996).
no DOI — not checkedZuber, M.E., Perron, M., Bang, A., Jolt, C.D. & Harris, W.A. Molecular cloning and expression analysis of the homeobox gene Six3 in Xenopus laevis. Dev. Biol. 186, 314 (1997).
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