Concepedia

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Marion Delous, Lekbir Baala, Rémi Salomon, Christine Laclef, Jeanette Vierkotten, Kálmán Tory, Christelle Golzio, Tiphanie Lacoste, Laurianne Besse, Catherine Ozilou,

Nature Genetics · 2007 · 493 citations · 28 references

DOI

Concepts

References

28

Parametric and nonparametric linkage analysis: a unified multipoint approach.

Leonid Kruglyak, Mark J. Daly, Mary Pat Reeve-Daly et al. · PubMed · 1996 · 2.9K citations · Full text

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Cilia and Hedgehog responsiveness in the mouse

Danwei Huangfu, Kathryn V. Anderson · Proceedings of the National Academy of Sciences · 2005 · 825 citations · Full text

, , +17

Familial agenesis of the cerebellar vermis

Marie Joubert, Jean-Jacques Eisenring, Jennifer Preston et al. · Neurology · 1969 · 651 citations · Full text

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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

, , +14

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A. Sayer, Edgar A. Otto, John F. O’Toole et al. · Nature Genetics · 2006 · 572 citations

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