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Bardet-Biedl Syndrome and Usher Syndrome
2003Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation.
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2008
Abstract BARDET–BIEDL SYNDROME Bardet–Biedl syndrome (BBS) (OMIM 209900) is a heterogeneous autosomal recessive disorder characterized by a combination of clinical findings that include obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay (Ammann, 1970; Alton and ...
Val C Sheffield +4 more
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Abstract BARDET–BIEDL SYNDROME Bardet–Biedl syndrome (BBS) (OMIM 209900) is a heterogeneous autosomal recessive disorder characterized by a combination of clinical findings that include obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay (Ammann, 1970; Alton and ...
Val C Sheffield +4 more
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2014
Bardet-Biedl syndrome is a ciliopathy with multivisceral abnormalities, characterized by postaxial polydactyly, cone-rod dystrophy, cognitive impairment, truncal obesity, renal malformation, and hypogenitalism.
Bernard Puech, Jean-Jacques De Laey
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Bardet-Biedl syndrome is a ciliopathy with multivisceral abnormalities, characterized by postaxial polydactyly, cone-rod dystrophy, cognitive impairment, truncal obesity, renal malformation, and hypogenitalism.
Bernard Puech, Jean-Jacques De Laey
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1998
Abstract Traditionally, Laurence-Moon-Biedl syndrome has been described as characterized by retinal dystrophy, polydactyly, obesity, mental retardation, and hypogenitalism (Ammann 1970; McKusick 1988). However, it is likely that this syndrome comprises two genetic disorders: the Laurence-Moon and Bardet-Biedl syndromes (Bartlet 1920 ...
Patrick S Parfrey +2 more
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Abstract Traditionally, Laurence-Moon-Biedl syndrome has been described as characterized by retinal dystrophy, polydactyly, obesity, mental retardation, and hypogenitalism (Ammann 1970; McKusick 1988). However, it is likely that this syndrome comprises two genetic disorders: the Laurence-Moon and Bardet-Biedl syndromes (Bartlet 1920 ...
Patrick S Parfrey +2 more
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Archivos de la Sociedad Espanola de Oftalmologia, 2005
We report a case of Bardet-Biedl syndrome.A nine-year-old boy was having problems of recent loss of vision when in the dark. He was born with polydactyly in the feet for which he had surgery performed when he was seven weeks old. Mental retardation was significant and his vision was poor.
O, Martínez Giralt, I, Flores Despradel
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We report a case of Bardet-Biedl syndrome.A nine-year-old boy was having problems of recent loss of vision when in the dark. He was born with polydactyly in the feet for which he had surgery performed when he was seven weeks old. Mental retardation was significant and his vision was poor.
O, Martínez Giralt, I, Flores Despradel
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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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Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance
EMBO Reports, 2021Oksana Tsyklauri +2 more
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