Results 121 to 130 of about 6,126 (165)
Some of the next articles are maybe not open access.
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.
openaire +3 more sources
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.
openaire +3 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
Clinical features of Bardet‐Biedl syndrome
Pediatrics International, 1995AbstractSix patients with Bardet‐Biedl syndrome who have been followed in our clinics for the last 5 years are reported in this study. Of the five classic features of this syndrome; obesity and mental retardation were present in all cases, retinal disturbances were present in five, Polydactyly in three and hypogenitalism was observed in all four male ...
ÖZER G. +5 more
openaire +2 more sources
[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
openaire +2 more sources
Ciliopathy: Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000.Ahmet, Hondur +4 more
openaire +2 more sources
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
openaire +1 more source
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