Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review

The BBSome: a nexus controlling energy metabolism in the brain

(2021) Sandra Blaess et al.   JOURNAL OF CLINICAL INVESTIGATION

BBSome: a New Player in Hypertension and Other Cardiovascular Risks

(2021) Yuying Zhao et al.   HYPERTENSION

Ciliopathies and the Kidney: A Review

(2020) Dominique J. McConnachie et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

(2019) Charlotte Gimpel et al.   Nature Reviews Nephrology

Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease

(2018) Mingchao Zhang et al.   NEPHROLOGY

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016

(2016) Fouad T. Chebib et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

(2016) Elizabeth Forsythe et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The spectrum of autosomal dominant polycystic kidney disease in children and adolescents

(2016) Bharathi V. Reddy et al.   PEDIATRIC NEPHROLOGY

Renal transplantation in Bardet–Biedl Syndrome

(2016) Robert M. Haws et al.   PEDIATRIC NEPHROLOGY

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

(2015) Gabrielle Wheway et al.   NATURE CELL BIOLOGY

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

(2014) Anna Lindstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) O. M'hamdi et al.   CLINICAL GENETICS

Nephrology in China

(2013) Zhi-Hong Liu   Nature Reviews Nephrology

Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management

(2013) R. L. Luciano et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

(2011) Vincent Marion et al.   KIDNEY INTERNATIONAL

Hypertension in Autosomal Dominant Polycystic Kidney Disease

(2010) Arlene B. Chapman et al.   ADVANCES IN CHRONIC KIDNEY DISEASE

Renal Ultrasonographic Evaluation in Children at Risk of Autosomal Dominant Polycystic Kidney Disease

(2010) Berenice Reed et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

High incidence of Bardet Biedl syndrome among the Bedouin

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

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

(2010) O. Imhoff et al.   Clinical Journal of the American Society of Nephrology

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

(2010) G. Billingsley et al.   JOURNAL OF MEDICAL GENETICS

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

(2009) Norann A. Zaghloul et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

(2008) T D. Hjortshoj et al.   BRITISH JOURNAL OF OPHTHALMOLOGY