Concepedia

Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Sarah Marsh, Carrie M Louie, Lesley C. Scott, Aithala Gururaj, Lihadh Al‐Gazali, Asma Al-Tawari, Hülya Kayserili, László Sztriha,

The American Journal of Human Genetics · 2004 · 292 citations · 15 references

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References

15

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A. Otto, Bernhard Schermer, Tomoko Obara et al. · Nature Genetics · 2003 · 642 citations · Full text

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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

Russell J. Ferland, Wafaa Eyaid, Randall V. Collura et al. · Nature Genetics · 2004 · 412 citations · Full text

, , +16

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

Friedhelm Hildebrandt, Edgar A. Otto, Hans Gerd Nothwang et al. · Nature Genetics · 1997 · 352 citations

, , +6

"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

Bernard L. Maria, Karin B.N. Hoang, Ronald J. Tusa et al. · Journal of Child Neurology · 1997 · 334 citations

, , +17

Cloning of inv, a gene that controls left/right asymmetry and kidney development

Toshio Mochizuki, Yukio Saijoh, Ken Tsuchiya et al. · Nature · 1998 · 261 citations

, , +10