Pure partial trisomy of 6p12.1–p22.1 secondary to a familial 12/6 insertion in two malformed babies

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

Masahiko Satoda, Feng Zhao, George A. Díaz et al. · Nature Genetics · 2000 · 265 citations

Life Sciences, Genetics, Molecular Genetics +12

Syndromic patent ductus arteriosus: Evidence for haploinsufficient <i>TFAP2B</i> mutations and identification of a linked sleep disorder

Arya Mani, Jayaram Radhakrishnan, Anita Farhi et al. · Proceedings of the National Academy of Sciences · 2005 · 79 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Inversion duplication of chromosome 6 with trisomic codominant expression of HLA antigens.

George D. Pearson, Joseph D. Mann, Jeannette T. Bensen et al. · PubMed · 1979 · 37 citations

Life Sciences, Genetics, Molecular Genetics +16

A 6p trisomy detected in a family with a ?giant satellite?

Hideaki Chiyo, Yoshikazu Kuroki, I Matsui et al. · Human Genetics · 1975 · 34 citations

Life Sciences, Genetics, Molecular Genetics +12

A family with a presumptive C-F translocation in five generations.

Therkelsen Aj, Thomas Klinge, K. Henningsen et al. · PubMed · 1971 · 33 citations

Life Sciences, Genetics, Molecular Genetics +10