Associated Papers
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Gao S et al.
Orphanet Journal of Rare Diseases, 2024
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Viehl L et al.
Pediatric Nephrology (berlin, Germany), 2023
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.
Hey CAB et al.
International Journal of Molecular Sciences, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT.
Hey CAB et al.
Stem Cell Research, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
Chandrasekar SP et al.
The Indian Journal of Medical Research, 2018
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL et al.
Prenatal Diagnosis, 2018
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
Sathya Priya C et al.
Clinical Genetics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Lindstrand A et al.
American Journal of Human Genetics, 2014
Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
Dulfer E et al.
American Journal of Medical Genetics. Part A, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Muller J et al.
Human Genetics, 2010
Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders.
Webb MP et al.
Kidney International, 2009
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
Dollfus H et al.
Medecine Sciences : M/s, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Stoetzel C et al.
Nature Genetics, 2006