Bardet-Biedl syndrome
Mechanistic insights into Bardet Biedl syndrome, a model ciliopathy
... Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ...
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Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
... Bardet-Biedl syndrome, a ciliopathy with autosomal recessive/oligogenic inheritance shows high clinical variability and genetic heterogeneity. Although the postaxial polydactyly is evident at birth, ...
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Bardet-Biedl Syndrome: A Rare Report of two Sibling Affected and Third Sibling with Multiple Anomalies
... Though a lot of progress has been made about this rare disease, there are still more things need to be known about its pathophysiology. Further studies are required to understand the genetic complexity of ...
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A Rare Classical Presentation of Bardet Biedl Syndrome in a Three Year Old Male from South East Nigeria: A Case Report
... rence-Moon-Bardet-Biedl syndrome after it was found that the phenotypes overlap and may be allelic [1] ...Alström syndrome and Prader Willi Syndrome (PWS). Alström syndrome ...
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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
... Alström syndrome (ALMS) (OMIM 203800) is charac- terized by early onset blindness and obesity ...The syndrome is caused by loss of function mutations in ALMS1, encoding a protein of un- known function ...
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Leptin resistance contributes to obesity and hypertension in mouse models of Bardet Biedl syndrome
... Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterized by many features, includ- ing obesity and cardiovascular disease. We previously developed knockout mouse models of 3 BBS ...
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Bardet–Biedl syndrome: expect the unexpected, suspect the unsuspected
... of Bardet–Biedl syndrome (BBS) with the combination of a malacic bifid epiglottis and anterior laryngeal ...web, Bardet–Biedl syndrome, bifid epiglottis, laryngeal anomalies, ...
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Bardet Biedl syndrome with end stage kidney disease in a four year old Romanian boy: a case report
... The variable manifestations of BBS were initially described by Bardet and Biedl in the 1920s [11]. Renal dys- function has been recognized only recently to be a compo- nent of the BBS clinical phenotype. ...
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Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients
... Bardet-Biedel syndrome (BBS) is an autosomal recessive disorder, characterized by the following major criteria: early rod-cone dystrophy, polydactyly, obesity, hypogonadism, mental retardation, and renal ...
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2015_Fracchia.pdf
... possible Bardet-Biedl ...of Bardet-Biedl ...with Bardet- Biedl Syndrome three months after birth because she did not exhibit all the necessary criteria; she lacked ...
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A systems-biology approach to understanding the ciliopathy disorders
... Alström syndrome; BBS, Bardet-Biedl syndrome; CORS, cerebello-oculo-renal syndrome; EVC, Ellis-van Creveld syndrome; JATD, Jeune asphyxiating thoracic dystrophy; JBTS, Joubert ...
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Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing
... including Bardet-Biedl syndrome (BBS) and Usher syndrome, exhibit a highly penetrant retinal de- generation phenotype with multiple affected tissues and are also ...
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Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins
... Kartagener’s syndrome was one of the earliest descrip- tions of a motile cilia disorder ...While Bardet–Biedl syndrome (BBS) was recognized as a distinct collection of phenotypes at least 60 ...
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The expanding spectrum of rare monogenic autoinflammatory diseases
... Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of ...
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Download Download PDF
... basilar syndrome, cerebral venous throm- bosis, transient cerebral hyperemia, Creutzfeldt-Jakob dis- ease, gliomatosis cerebri, infectious meningitis, encephalitis, post-infectious encephalomyelitis, vasculitis, ...
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Extra Aneurysmal Flow Modification Following Pipeline Embolization Device Implantation: Focus on Regional Branches, Perforators, and the Parent Vessel
... RESULTS: Slow flow was observed in 13 of 68 (19.1%) side branches covered by the Pipeline Embolization Device. It was reported in all cases of anterior cerebral artery coverage, in 3/5 cases of M2-MCA coverage, and in ...
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A Study on Diseases Affecting Litopenaeus vannamei Farming in Coastal Districts of Andhra Pradesh, India
... Spot Syndrome Virus (WSSV) has a wide host range in crustaceans [7,8,9] and is potentially becoming cause to most of the commercially cultivating shrimp species (OIE ...
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Significance of defecography and the role of rectocele in constipated patients
... Constipation is functionally separated into the follow- ing subgroups: slow colonic transit, normal colonic tran- sit, and defecatory or rectal evacuation abnormalities [2]. Disorders that are associated with pelvic ...
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Comorbidity of the Metabolic Syndrome: Hyperuricemia, Gallstone Disease, Hormonal Disorders
... metabolic syndrome and benign prostate ...metabolic syndrome has shown that the simultaneous course of the metabolic syndrome with hyperuricemia, gallstone disease and various hormonal disorders has ...
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Systemic Lupus Erythematosus: A Review
... Antinuclear antibody (ANA) testing and anti-extractable nuclear antigen (anti-ENA) form the mainstay of serologic testing for SLE. Several techniques are used to detect ANAs. Clinically the most widely used method is ...
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