Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer.

Michael A. Frohman, Michael Dush, Gail R. Martin · Proceedings of the National Academy of Sciences · 1988 · 4.6K citations · Full text

Variant Mrnas, Genetics, Molecular Biology +17

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

Sensitive Detection, Polymerase Chain Reaction, Genetic Analysis +12

Growth hormone receptor and serum binding protein: purification, cloning and expression

David W. M. Leung, Steven A. Spencer, George Cachianes et al. · Nature · 1987 · 1.5K citations

Signal Transduction, Growth Hormone, Biochemistry +10

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Rita Shiang, Leslie M. Thompson, Yazhen Zhu et al. · Cell · 1994 · 1.3K citations

Biology, Mendelian Disorder, Genetic Disorder +8

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Fred Petrif, Rachel H. Giles, Hans G. Dauwerse et al. · Nature · 1995 · 1.2K citations

Transcriptional Regulation, Rubinstein-taybi Syndrome, Mendelian Disorder +7