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Scholar Results 1 - 10 of about 101 related to Riise: Intrafamilial variation of the phenotype in Bardet–Biedl syndrome. (0.08 sec) 

Intrafamilial variation of the phenotype in Bardet–Biedl syndrome

- 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

[CITATION] Laurence-Moon-Bardet-Biedl syndrome. Clinical, electrophysiological and genetic aspects.


R Riise - Acta ophthalmologica Scandinavica. Supplement, 1998 - ncbi.nlm.nih.gov
1: Acta Ophthalmol Scand Suppl. 1998;(226):1-28. Laurence-Moon-Bardet-Biedl syndrome.
Clinical, electrophysiological and genetic aspects. Riise R. ...
Cited by 8 - Related articles - BL Direct - All 3 versions

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different …


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

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and …


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

The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the …


R Riise, K Tornqvist, AF Wright, K Mykytyn, VC … - Archives of ophthalmology, 2002 - Am Med Assoc
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Cited by 10 - Related articles - BL Direct - All 5 versions

Skeletal abnormalities of hands and feet in Laurence-Moon-Bardet-Biedl (LMBB) syndrome: …


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

Clinical features of Bardet-Biedl syndrome.


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

Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl …


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

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

- 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

Linkage mapping in 29 Bardet–Biedl syndrome families confirms loci in chromosomal …


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


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