Bardet–Biedl syndrome

A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis

Maxence V. Nachury, Alexander V. Loktev, Qihong Zhang et al. · Cell · 2007 · 1.4K citations

Life Sciences, Cell Biology, Molecular Biology +9

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

Medicine, Genetics, Pediatrics +9

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

Life Sciences, Endocrinology, Human Genetics +5

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

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

Life Sciences, Genetics, Molecular Genetics +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

Medicine, Endocrinology, Ophthalmology +12