Concepedia

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

Ercole Rao, Maki Fukami, Andreas Rump, Beate Niesler, Annelyse Mertz, Koji Muroya, Gerhard Binder, Stefan Kirsch, M. Winkelmann, Gabriele Nordsiek,

Nature Genetics · 1997 · 954 citations · 59 references

DOI

Concepts

References

59

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

, , +13

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

, , +16

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

, , +14

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

, , +13

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

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