Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

In search of triallelism in Bardet–Biedl syndrome

(2012) Leen Abu-Safieh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

High incidence of Bardet Biedl syndrome among the Bedouin

(2010) Talaat I. Farag et al.   CLINICAL GENETICS

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

(2010) Sabine Janssen et al.   HUMAN GENETICS

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

(2010) Jean Muller et al.   HUMAN GENETICS

Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

(2010) Tina Duelund Hjortshøj et al.   HUMAN MUTATION

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

(2010) N. A. Zaghloul et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

BBS7andTTC8(BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

(2009) Jenea Bin et al.   HUMAN MUTATION

TheChlamydomonas reinhardtiiBBSome is an IFT cargo required for export of specific signaling proteins from flagella

(2009) Karl-Ferdinand Lechtreck et al.   JOURNAL OF CELL BIOLOGY

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

(2009) H. M. Harville et al.   JOURNAL OF MEDICAL GENETICS

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

(2009) L. Abu Safieh et al.   JOURNAL OF MEDICAL GENETICS

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

(2008) N. F. Berbari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA