- ►bmj.com PL Beales, N Elcioglu, AS Woolf, D Parker, FA … - British Medical Journal, 1999 - jmg.bmj.com QUESTIONNAIRE A seven page questionnaire, requesting details of the patient's
birth and delivery, age at diagnosis, and diagnosing clinician was used.
Information was sought regarding height, weight, presence or absence of ... Cited by 213 - Related articles - BL Direct - All 8 versions
- ►nih.gov K Mykytyn, RF Mullins, M Andrews, AP Chiang … - Proceedings of the National Academy of Sciences of …, 2004 - National Acad Sciences The functions of the proteins encoded by the Bardet–Biedl syndrome (BBS) genes
are unknown. Mutations in these genes lead to the pleiotropic human disorder
BBS, which is characterized by obesity, retinopathy, polydactyly, renal and ... Cited by 112 - Related articles - BL Direct - All 9 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
- ►oxfordjournals.org JL Badano, JC Kim, BE Hoskins, RA Lewis, SJ … - Human molecular genetics, 2003 - Oxford Univ Press Bardet–Biedl syndrome (BBS) is a pleiotropic genetic disorder with substantial
inter- and intrafamilial variability, that also exhibits remarkable genetic
heterogeneity, with seven mapped BBS loci in the human genome. Recent data ... Cited by 69 - Related articles - BL Direct - All 10 versions
- ►nih.gov K Mykytyn, DY Nishimura, CC Searby, G Beck, … - The American Journal of Human Genetics, 2003 - Elsevier Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of
obesity, pigmentary retinopathy, polydactyly, renal malformations, mental
retardation, and hypogenitalism. Patients with BBS are also at increased ... Cited by 52 - Related articles - BL Direct - All 13 versions
SJ Moore, JS Green, Y Fan, AK Bhogal, E … - American Journal of Medical Genetics Part A, 2005 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 44 - Related articles - All 4 versions
K Mykytyn, VC Sheffield - Trends in molecular medicine, 2004 - Elsevier Bardet–Biedl Syndrome (BBS) is a genetic disorder with the primary features of
retinal dystrophy, obesity, polydactyly, structural and functional renal
abnormalities, and learning disabilities. In addition to displaying ... Cited by 42 - Related articles - 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
- ►angrylapdog.com NB Haider, A Ikeda, JK Naggert, PM Nishina - Human Molecular Genetics, 2002 - hmg.oxfordjournals.org.p.angrylapdog.com The identification of disease genes and the mutations within them has greatly
enhanced our understanding of normal function in the eye and ear. At the same
time, it has become clear that these single-gene mutations must reside in a ... Cited by 29 - Related articles - BL Direct - All 5 versions
S Iannello, P Bosco, A Cavaleri, M Camuto, P … - Obesity reviews, 2002 - interscience.wiley.com Bardet–Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly
grouped with Laurence–Moon–Biedl syndrome but considered today as a separate
entity) characterized by abdominal obesity, mental retardation, dysphormic ... Cited by 25 - Related articles - BL Direct - All 3 versions
