Recent Publications on Bardet-Biedl Syndrome: |  |
Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.
CONTEXT: A role for the centrosome has been suggested in the pathology of...
Direct Link | 27th September, 2008
| Department of Psychiatry and Behavioral Sciences, The Johns Hopkins
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Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.
BACKGROUND: To report the clinical findings in two brothers presenting...
Direct Link | 26th September, 2008
| Manchester Royal Eye Hospital, Manchester, United Kingdom.
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| Clinical manifestations of hereditary cystic kidney disease.
| 20th September, 2008
| Department of Medicine, The Mount Sinai School of Medicine, One Gustave L.
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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
Joubert syndrome (JS) is a developmental brain disorder characterized by...
Direct Link | 6th September, 2008
| Department of Neurosciences, University of California San Diego, La Jolla,
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Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome.
Hirschsprung's disease (HSCR) is a developmental disorder characterized by...
Direct Link | 30th August, 2008
| Saudi Aramco Medical Services Organization, PO Box 1356 Ras Tanura 31311,
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Fraser syndrome: a new case report with review of the literature.
Fraser syndrome is an autosomal recessive disorder characterized by...
Direct Link | 8th August, 2008
| Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
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A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl Syndrome in the Faroe Islands.
BACKGROUND/AIM: Bardet-Biedl syndrome is a multi-organ disease presenting...
Direct Link | 2nd August, 2008
| Kennedy Center, Denmark.
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| Regulation of Alstrom syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.
| 24th July, 2008
| Endocrine-Metabolic Laboratory, Internal Medicine 3, University of Padua,
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Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.
Bardet-Biedl syndrome (BBS) is a pleiotropic, genetically heterogeneous...
Direct Link | 24th July, 2008
| Department of Pediatrics, Howard Hughes Medical Institute, University of
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Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome.
The presence of hydrometrocolpos and postaxial polydactyly in a neonate...
Direct Link | 23rd July, 2008
| Ras Tanura Health Center, Saudi Aramco Medical Services Organization, Ras
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Biological tools revamp disease classification.
Hirschsprung''s disease (HSCR) is a developmental disorder characterized by...
Direct Link | 17th July, 2008
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Restoration of renal function in zebrafish models of ciliopathies.
The ciliopathies are a class of rare human genetic disease whose...
Direct Link | 8th July, 2008
| Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford
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Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly.
Male infertility is one possible consequence of a group of disorders...
Direct Link | 27th June, 2008
| Division of Medical Molecular Genetics and Gene Diagnostics, Institute for
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Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.
Facial recognition is central to the diagnosis of many syndromes, and...
Direct Link | 29th May, 2008
| Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford
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Assembly of primary cilia.
Primary cilia are microtubule-based, hair-like sensory organelles present...
Direct Link | 9th April, 2008
| Department of Biology, Section of Cell and Molecular Biology, University
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