| 1 |
Bardet-Biedl syndrome - antenatal presentation of 45 fetuses with biallelic pathogenic variants in known BBS genes. ( 30614526
)
|
Mary L...Muller J
|
2019 |
| 2 |
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. ( 30723319
)
|
Wormser O...Birk OS
|
2019 |
| 3 |
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. ( 30761183
)
|
Schaefer E...Muller J
|
2019 |
| 4 |
Cutaneous findings in Bardet-Biedl syndrome. ( 30790276
)
|
Haws RM...Green CB
|
2019 |
| 5 |
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. ( 30793792
)
|
Tappel AC...Zlotoff B
|
2019 |
| 6 |
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome. ( 30839500
)
|
Shen T...Yan XM
|
2019 |
| 7 |
Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. ( 30850397
)
|
Imani S...Fu J
|
2019 |
| 8 |
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. ( 30901771
)
|
Kretschmer V...May-Simera HL
|
2019 |
| 9 |
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ( 30902542
)
|
Anosov M...Birk R
|
2019 |
| 10 |
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. ( 29445114
)
|
Novas R....Badano J.L.
|
2018 |
| 11 |
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. ( 29666954
)
|
Kurata K....Hotta Y.
|
2018 |
| 12 |
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. ( 29633607
)
|
Nikkhah E....Golchin N.
|
2018 |
| 13 |
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ( 29806606
)
|
Chandrasekar S.P....Sarangapani S.
|
2018 |
| 14 |
Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (<i>Bbs1</i><sup>M<i>390</i>R/M<i>390</i>R</sup>): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation. ( 29971011
)
|
Sheffield I.D....Kooyman D.L.
|
2018 |
| 15 |
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a<i>Bardet-Biedl Syndrome 9</i>(<i>BBS9</i>) deletion. ( 29367880
)
|
Reiner J....Scott S.A.
|
2018 |
| 16 |
[Bardet-Biedl syndrome and Kidney failure: a case report]. ( 29390243
)
|
Tattoli F....Formica M.
|
2018 |
| 17 |
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes. ( 29482283
)
|
Viggiano D....De Santo N.G.
|
2018 |
| 18 |
Managing Bardet-Biedl Syndrome-Now and in the Future. ( 29487844
)
|
Forsythe E....Beales P.L.
|
2018 |
| 19 |
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ( 29126234
)
|
Dilan T.L....Ramamurthy V.
|
2018 |
| 20 |
The Endocrine and Metabolic Characteristics of a large Bardet-Biedl syndrome clinic population. ( 29409041
)
|
Mujahid S....McGowan B.M.
|
2018 |
| 21 |
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. ( 29339469
)
|
Liu P....Lechtreck K.F.
|
2018 |
| 22 |
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome. ( 29854508
)
|
Grechukhina O....Vash-Margita A.
|
2018 |
| 23 |
Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome. ( 29539623
)
|
Caterino M....Capasso G.
|
2018 |
| 24 |
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. ( 30073714
)
|
Li QY...Li DZ
|
2018 |
| 25 |
Characterisation of Bardet Biedl Syndrome by post-mortem microfocus computed tomography (micro-CT). ( 30079607
)
|
Shelmerdine SC...Arthurs OJ
|
2018 |
| 26 |
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. ( 30142598
)
|
Hey CAB...M?ller LB
|
2018 |
| 27 |
Anesthetic Management of a Pediatric Patient With Bardet-Biedl Syndrome. ( 30234512
)
|
Gencol T...Balcioglu T
|
2018 |
| 28 |
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. ( 30293640
)
|
Olson AJ...Haws RM
|
2018 |
| 29 |
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. ( 30312873
)
|
Hey CAB...M?ller LB
|
2018 |
| 30 |
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome ( 30335236
)
|
Ladino LY...Beltr?n OI
|
2018 |
| 31 |
Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation. ( 30446775
)
|
Patnaik SR...May-Simera HL
|
2018 |
| 32 |
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. ( 30484961
)
|
Tavares E...H?on E
|
2018 |
| 33 |
Ciliopathy: Bardet-Biedl Syndrome. ( 30578506
)
|
Tsang SH...Sharma T
|
2018 |
| 34 |
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). ( 28824921
)
|
A8lvarez-Satta M....Valverde D.
|
2017 |
| 35 |
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ( 28761321
)
|
Ullah A....Ahmad W.
|
2017 |
| 36 |
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. ( 28143435
)
|
Esposito G....Salvatore F.
|
2017 |
| 37 |
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect. ( 28868293
)
|
Zacchia M....Capasso G.
|
2017 |
| 38 |
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787
)
|
Viswanathan V.K....Rajasekaran S.
|
2017 |
| 39 |
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ( 28624958
)
|
Qi Z....Wang H.
|
2017 |
| 40 |
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838
)
|
Williams C.L....Martens J.R.
|
2017 |
| 41 |
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024
)
|
Vora K.S....Shah V.R.
|
2017 |
| 42 |
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767
)
|
Garcia-Tizon Larroca S....Gamez Alderete F.
|
2017 |
| 43 |
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336
)
|
Chew T....Wade C.M.
|
2017 |
| 44 |
<i>FBN3</i> gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome. ( 29156830
)
|
Wang Y....Liu X.
|
2017 |
| 45 |
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. ( 29457131
)
|
Weihbrecht K....Sheffield V.C.
|
2017 |
| 46 |
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102
)
|
A8lvarez-Satta M....Valverde D.
|
2017 |
| 47 |
Toward personalized medicine in Bardet-Biedl syndrome. ( 29754569
)
|
Kenny J....Bacchelli C.
|
2017 |
| 48 |
Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome. ( 29161709
)
|
Zacchia M....Marion V.
|
2017 |
| 49 |
Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. ( 29232001
)
|
Ullah A....Ahmad W.
|
2017 |
| 50 |
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. ( 28808579
)
|
Ohto T....Kosaki K.
|
2017 |
