Concepedia

A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy

Fujio Umehara, Genshu Tate, K Itoh, Naoki Yamaguchi, Tsutomu Douchi, Toshiyuki Mitsuya, M Osame

The American Journal of Human Genetics · 2000 · 198 citations · 9 references

DOIFull text

Open access

Concepts

References

9

HedgehogandBmpGenes Are Coexpressed at Many Diverse Sites of Cell–Cell Interaction in the Mouse Embryo

Mark Joseph Bitgood, Andrew P. McMahon · Developmental Biology · 1995 · 1.4K citations

, , +9

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Erich Roessler, Elena Belloni, Karin Gaudenz et al. · Nature Genetics · 1996 · 1.2K citations

, , +3

Sertoli cell signaling by Desert hedgehog regulates the male germline

Mark Joseph Bitgood, Liya Shen, Andrew P. McMahon · Current Biology · 1996 · 676 citations · Full text

, , +12

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Elena Belloni, Maximilian Muenke, Erich Roessler et al. · Nature Genetics · 1996 · 644 citations

, , +5

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY

Ralf J. Jäger, Maria Anvret, Kerstin Hall et al. · Nature · 1990 · 412 citations

, , +10