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[Update on Bardet-Biedl syndrome].
Journal francais d'ophtalmologie, 2005Until recently, Bardet-Biedl syndrome was considered as a classic autosomal recessive condition. The disorder is defined by the association of the following clinical features: retinitis pigmentosa, polydactyly, obesity, hypogonadism, and possible mental retardation. This syndrome leads to multiple handicaps (visual impairment, complications of obesity,
Dollfus, H. +7 more
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Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
Therapeutics and Clinical Risk Management, 2023Andrea Melluso +2 more
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Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do
Journal of Multidisciplinary Healthcare, 2022Lavinia Caba +2 more
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American Journal of Ophthalmology, 1983
Cecilio F. Velasco Barona, Miguel Paciuc
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Cecilio F. Velasco Barona, Miguel Paciuc
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Acta medica portuguesa, 2002
Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations.
Luís, Siopa +3 more
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Bardet-Biedl syndrome is a rare disease characterized by pigmentary retinopathy, dysmorphic extremities, obesity, renal abnormalities and hypogonadism only in men. The authors present a typical case and made a brief commentary about the disease's cardinal manifestations.
Luís, Siopa +3 more
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Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance
EMBO Reports, 2021Oksana Tsyklauri +2 more
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Journal of the American Optometric Association, 1991
Tapetoretinal degeneration, obesity, polydactyly, mental retardation, and hypogonadism are the cardinal signs of Bardet-Biedl syndrome. Formerly grouped with Laurence-Moon syndrome, Bardet-Biedl has established itself as a separate entity. It is one of the rare systemic diseases associated with a form of retinitis pigmentosa.
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Tapetoretinal degeneration, obesity, polydactyly, mental retardation, and hypogonadism are the cardinal signs of Bardet-Biedl syndrome. Formerly grouped with Laurence-Moon syndrome, Bardet-Biedl has established itself as a separate entity. It is one of the rare systemic diseases associated with a form of retinitis pigmentosa.
openaire +1 more source