Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

Microfluorometric Detection of Deoxyribonucleic Acid Replication in Human Metaphase Chromosomes

Samuel A. Latt · Proceedings of the National Academy of Sciences · 1973 · 833 citations · Full text

Chromatin, Genome Instability, Chromosome Dynamics +15

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M. Dibbens, Patrick Tarpey, Kim Hynes et al. · Nature Genetics · 2008 · 441 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +11

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

Charles E. Schwartz, Melanie May, Nancy J. Carpenter et al. · The American Journal of Human Genetics · 2005 · 366 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +5

Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain

Patricia Blanco, Carole A. Sargent, Catherine Boucher et al. · Mammalian Genome · 2000 · 124 citations

Knockout Mouse, Developmental Biology, Genetics +6