Concepedia

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

Haifa Hichri, Corinne Stoetzel, Virginie Laurier, Solenne Caron, Sabine Sigaudy, Pierre Sarda, Christian Hamel, Dominique Martin‐Coignard, Gilles Morin, Bruno Leheup,

European Journal of Human Genetics · 2005 · 76 citations · 23 references

DOI

Concepts

References

23

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf et al. · Journal of Medical Genetics · 1999 · 972 citations · Full text

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Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene

Jin Billy Li, Jantje M. Gerdes, Courtney J. Haycraft et al. · Cell · 2004 · 768 citations · Full text

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Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Stephen J. Ansley, José L. Badano, Oliver E. Blacque et al. · Nature · 2003 · 690 citations

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Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Nicholas Katsanis, Stephen J. Ansley, José L. Badano et al. · Science · 2001 · 655 citations

, , +17

The Cardinal Manifestations of Bardet–Biedl Syndrome, a Form of Laurence–Moon–Biedl Syndrome

Jane S. Green, P S Parfrey, J D Harnett et al. · New England Journal of Medicine · 1989 · 556 citations

, , +12