Concepedia

Chromosomal abnormality at 6p25.1–25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy

John Kerrigan, Michael C. Kruer, Jason J. Corneveaux, Corrie B. Panganiban, Abraham Itty, David Reiman, Yu‐Tze Ng, Dietrich Stephan, David W. Craig

Epilepsy Research · 2007 · 13 citations · 15 references

DOI

Concepts

References

15

A Potassium Channel Mutation in Neonatal Human Epilepsy

Christian Biervert, Björn C. Schroeder, Christian Kubisch et al. · Science · 1998 · 1.1K citations

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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

Seongman Kang, John M. Graham, Ann Haskins Olney et al. · Nature Genetics · 1997 · 510 citations

, , +8

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

C Shaw-Smith · Journal of Medical Genetics · 2004 · 510 citations · Full text

, , +17

Catalogue of Unbalanced Chromosome Aberrations in Man

Susan Roberts · Journal of Medical Genetics · 1985 · 398 citations · Full text

, , +12

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

Daniel Kelberman · Journal of Clinical Investigation · 2006 · 379 citations · Full text

, , +15