Luis E. Figuera

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

Berthold Struk, Li Cai, Stéphanie Zäch et al. · Journal of Molecular Medicine · 2000 · 144 citations

Molecular Physiology, Natural Sciences, Membrane Transport +10

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Ramesh C. Juyal, Luis E. Figuera, Xueya Hauge et al. · PubMed · 1996 · 128 citations

New PCR method to differentiate species in the<i>Aspergillus niger</i>aggregate

Francesc Accensi, J. Cano, Luis E. Figuera et al. · FEMS Microbiology Letters · 1999 · 105 citations · Full text

Diagnostic Mycology, Fungal Diversity, New Pcr Method +9

X-Linked Congenital Hypertrichosis Syndrome Is Associated with Interchromosomal Insertions Mediated by a Human-Specific Palindrome near SOX3

Hongwen Zhu, Dandan Shang, Miao Sun et al. · The American Journal of Human Genetics · 2011 · 89 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +11

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24–q27.1

Luis E. Figuera, Massimo Pandolfo, Patrick W. Dunne et al. · Nature Genetics · 1995 · 72 citations

Developmental Biology, Cytogenetics, Genetic Disorder +7