- ►nih.gov [PDF] R Riise, S Andreasson, MK Borgström, AF … - British Journal of ophthalmology, 1997 - bjo.bmj.com RESULTS Intrafamilial variation of expressivity of the features obesity,
polydactyly, abnormal radiograms of the extremities, hypogenitalism, short
stature, paraplegia, and dental abnormalities was found. The retinal ... Cited by 31 - Related articles - BL Direct - All 8 versions
R Carmi, K Elbedour, EM Stone, VC Sheffield - American journal of medical genetics, 1995 - interscience.wiley.com Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental
retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal
and cardiac abnormalities are also frequent in this disorder. Previous ... Cited by 62 - Related articles - BL Direct - All 5 versions
TL Young, MO Woods, PS Parfrey, JS Green, E … - American journal of medical genetics, 1998 - interscience.wiley.com There are at least five distinct Bardet-Biedl syndrome (BBS) loci, four of which
have been mapped: 11q (BBS1), 16q (BBS2), 3p (BBS3), and 15q (BBS4). A
comparative study of the three Arab-Bedouin kindreds used to map the BBS2, ... Cited by 34 - Related articles - BL Direct - All 3 versions
R Riise, K Tornqvist, AF Wright, K Mykytyn, VC … - Archives of ophthalmology, 2002 - Am Med Assoc You are seeing this message because your Web browser does not support basic Web
standards. Find out more about why this message is appearing and what you can do
to make your experience on this site better. ... Add to CiteULike Add to ... Cited by 10 - Related articles - BL Direct - All 5 versions
O Rudling, R Riise, K Tornqvist, K Jonsson - Skeletal radiology, 1996 - Springer &p.1:Abstract Objective. To identify ra- diological changes of the hands and
feet in a large group of patients with Laurence-Moon-Bardet-Biedl syn- drome.
Design. Postero-anterior views of hands and feet were obtained and ... Cited by 11 - Related articles - BL Direct - All 4 versions
G Ozer, B Yüksel, D Süleymanova, E Alhan, … - Acta paediatrica Japonica; Overseas edition, 1995 - ncbi.nlm.nih.gov Six 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, ... Cited by 8 - Related articles - BL Direct
DR Bergsma, KS Brown - Birth defects original article series, 1975 - ncbi.nlm.nih.gov There is a great degree of heterogeneity of ophthalmologic and endocrinologic
manifestations among patients with the Bardet-Biedl syndrome. The similarity of
the atypical forms of retinitis pigmentosa and cone-rod degeneration ... Cited by 20 - Related articles - All 4 versions
- ►bmj.com [PDF] PL Beales, AM Warner, GA Hitman, R Thakker, … - British Medical Journal, 1997 - jmg.bmj.com Abstract The autosomal recessive disorder Bardet- Biedl syndrome is
characterised by retinal degeneration, polydactyly, obesity, mental retardation,
hypogenitalism, renal dyspla- sia, and short stature. It is heterogeneous ... Cited by 91 - Related articles - BL Direct - All 7 versions
EA Bruford, R Riise, PW Teague, K Porter, … - Genomics, 1997 - Elsevier Bardet–Biedl syndrome (BBS) is a clinically and genetically heterogeneous
autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly,
obesity, hypogenitalism, mental retardation, and renal anomalies. To detect ... Cited by 91 - Related articles - BL Direct - All 4 versions