Bardet-Biedl syndrome 1 is an autosomal recessive disorder caused by mutations in the BBS1 gene. The phenotype can be further modified by mutations in other ciliopathy genes including CCDC28B, ARL6, and TMEM67.
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CICCARELLI EC et al. (1961) Laurence-Moon-Biedl syndrome. Report of an unusual family. |
2. |
Woods MO et al. (1999) Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. |
3. |
David A et al. (1999) Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. |
4. |
Katsanis N et al. (1999) Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. |
5. |
Young TL et al. (1999) A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. |
6. |
Lorda-Sanchez I et al. (2000) Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. |
7. |
Beales PL et al. (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. |
8. |
Burghes AH et al. (2001) Genetics. The land between Mendelian and multifactorial inheritance. |
9. |
Katsanis N et al. (2001) Exploring the molecular basis of Bardet-Biedl syndrome. |
10. |
Mykytyn K et al. (2002) Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. |
11. |
Mykytyn K et al. (2003) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). |
12. |
Cox GF et al. (2003) Retinal function in carriers of Bardet-Biedl syndrome. |
13. |
None (1956) Laurence-Moon-Biedl syndrome in an Arab boy: familial incidence. |
14. |
Leppert M et al. (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. |
15. |
Fan Y et al. (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. |
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Kulaga HM et al. (2004) Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. |
17. |
Moore SJ et al. (2005) Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. |
18. |
Ross AJ et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. |
19. |
Tan PL et al. (2007) Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. |
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Davis RE et al. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. |
21. |
Shah AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. |
22. |
Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. |
23. |
Muller J et al. (2010) Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. |
24. |
Janssen S et al. (2011) Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. |
25. |
Abu-Safieh L et al. (2012) In search of triallelism in Bardet-Biedl syndrome. |
26. |
Scheidecker S et al. (2014) Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). |
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Mehrotra N et al. (1997) Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome. |
28. |
Wang X et al. (2013) Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. |
29. |
Katsanis N et al. (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. |
30. |
Kwitek-Black AE et al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. |
31. |
Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. |
32. |
Chanmugam D et al. (1977) The Laurence-Moon-Biedl syndrome in a Singhalese family. |
33. |
Toledo SP et al. (1977) Evaluation of the hypothalamic-pituitary-gonadal function in the Bardet-Biedl syndrome. |
34. |
Gershoni-Baruch R et al. (1992) Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome. |
35. |
Croft JB et al. (1990) Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. |
36. |
Farag TI et al. (1989) High incidence of Bardet Biedl syndrome among the Bedouin. |
37. |
Green JS et al. (1989) The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. |
38. |
Farag TI et al. (1988) Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. |
39. |
Harnett JD et al. (1988) The spectrum of renal disease in Laurence-Moon-Biedl syndrome. |
40. |
Alton DJ et al. (1973) Urographic findings in the Bardet-Biedl syndrome, formerly the Laurence-Moon-Biedl syndrome. |
41. |
None (1971) Familial translocation t(2p-; 17p+). |
42. |
Emberger JM et al. (1970) [Digito-palmar dermatoglyphics of a group of Tunisians]. |
43. |
Chang RJ et al. (1981) Hypogonadotropic hypogonadism associated with retinitis pigmentosa in a female sibship: evidence for gonadotropin deficiency. |
44. |
Schachat AP et al. (1982) Bardet-Biedl syndrome and related disorders. |
45. |
Pagon RA et al. (1982) Hepatic involvement in the Bardet-Biedl syndrome. |
46. |
Haning RV et al. (1980) Virilism as a late manifestation in the Bardet-Biedl syndrome. |
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Croft JB et al. (1995) Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. |
48. |
Stoler JM et al. (1995) Genital abnormalities in females with Bardet-Biedl syndrome. |
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Elbedour K et al. (1994) Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. |
50. |
Işlek I et al. (1996) Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease. |
51. |
Beales PL et al. (1997) Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. |
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Bruford EA et al. (1997) Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. |
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OMIM.ORG article Omim 209900 |