Dina J. Zand

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

John A. Martignetti, Lifeng Tian, Dong Li et al. · The American Journal of Human Genetics · 2013 · 204 citations · Full text

Mendelian Disorder, Genetic Disorder, Pathology +2

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

William B. Dobyns, Ghayda Mirzaa, Susan L. Christian et al. · American Journal of Medical Genetics Part A · 2008 · 174 citations

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Matthew Bower, Rémi Salomon, Judith Allanson et al. · Human Mutation · 2011 · 152 citations · Full text

Pax2 Mutations, Urology, Mendelian Disorder +15

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant et al. · American Journal of Medical Genetics Part A · 2013 · 104 citations · Full text

Brain Development, Genetics, Duplication 17P13.3 +19

Retinoic acid-mediated down-regulation of Oct3/4 coincides with the loss of promoter occupancy in vivo.

Saverio Minucci, V. Botquin, Young Il Yeom et al. · The EMBO Journal · 1996 · 101 citations · Full text

Transcriptional Regulation, Oct3/4 Coincides, Cell Regulation +9