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2018
Bardet-Biedl syndrome (BBS) is a human genetic disorder characterized by defects in multiple organ systems. Major symptoms of BBS include retinitis pigmentosa, obesity, polydactyly, mental retardation, genital abnormalities, and renal abnormalities.
Jennifer J. Iyengar +2 more
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Bardet-Biedl syndrome (BBS) is a human genetic disorder characterized by defects in multiple organ systems. Major symptoms of BBS include retinitis pigmentosa, obesity, polydactyly, mental retardation, genital abnormalities, and renal abnormalities.
Jennifer J. Iyengar +2 more
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Ciliopathy: Bardet-Biedl Syndrome
2018Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present.
Stephen H, Tsang +2 more
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Optometry and Vision Science, 2000
This case report describes the presentation of a patient with Bardet-Biedl syndrome. Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome.
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This case report describes the presentation of a patient with Bardet-Biedl syndrome. Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome.
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1999
Herein reported are the systemic and ophthalmologic features of four patients with Bardet-Biedl syndrome (BBS) from a consanguineous pedigree. Molecular genetic analyses showed linkage with the BBS4 locus (chromosome 15), and excluded linkage to the other known loci on chromosome 3 (BBS3), 11 (BBS1), and 16 (BBS2), respectively.
Alessandro Iannaccone +5 more
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Herein reported are the systemic and ophthalmologic features of four patients with Bardet-Biedl syndrome (BBS) from a consanguineous pedigree. Molecular genetic analyses showed linkage with the BBS4 locus (chromosome 15), and excluded linkage to the other known loci on chromosome 3 (BBS3), 11 (BBS1), and 16 (BBS2), respectively.
Alessandro Iannaccone +5 more
openaire +1 more source
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, MartÃnez 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, MartÃnez Giralt, I, Flores Despradel
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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
openaire +2 more sources