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Bardet-Biedl syndrome 02

Bardet-Biedl syndrome 2 is an autosomal recessive disorder caused by mutations in the BBS2 gene.

Systematic

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References:

1.

Kulaga HM et al. (2004) Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

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2.

Woods MO et al. (1999) Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.

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3.

David A et al. (1999) Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

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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.

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5.

Young TL et al. (1999) A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.

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6.

Lorda-Sanchez I et al. (2000) Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

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7.

Beales PL et al. (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

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8.

Burghes AH et al. (2001) Genetics. The land between Mendelian and multifactorial inheritance.

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9.

Katsanis N et al. (2001) Exploring the molecular basis of Bardet-Biedl syndrome.

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10.

Mykytyn K et al. (2002) Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

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11.

Mykytyn K et al. (2003) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

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12.

Cox GF et al. (2003) Retinal function in carriers of Bardet-Biedl syndrome.

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13.

None (1956) Laurence-Moon-Biedl syndrome in an Arab boy: familial incidence.

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14.

CICCARELLI EC et al. (1961) Laurence-Moon-Biedl syndrome. Report of an unusual family.

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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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16.

Leppert M et al. (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

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17.

Moore SJ et al. (2005) Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

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18.

Ross AJ et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

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19.

Tan PL et al. (2007) Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.

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20.

Davis RE et al. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

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21.

Shah AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.

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22.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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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.

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24.

Janssen S et al. (2011) Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

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25.

Abu-Safieh L et al. (2012) In search of triallelism in Bardet-Biedl syndrome.

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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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27.

Sheffield VC et al. (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

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28.

Nishimura DY et al. (2001) Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

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29.

Laurier V et al. (2006) Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

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30.

Mehrotra N et al. (1997) Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome.

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31.

Wang X et al. (2013) Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

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32.

Carmi R et al. (1995) Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

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33.

Katsanis N et al. (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

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34.

Katsanis N et al. (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

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35.

Kwitek-Black AE et al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

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36.

Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

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37.

Chanmugam D et al. (1977) The Laurence-Moon-Biedl syndrome in a Singhalese family.

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38.

Toledo SP et al. (1977) Evaluation of the hypothalamic-pituitary-gonadal function in the Bardet-Biedl syndrome.

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39.

Gershoni-Baruch R et al. (1992) Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome.

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40.

Croft JB et al. (1990) Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs.

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41.

Farag TI et al. (1989) High incidence of Bardet Biedl syndrome among the Bedouin.

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42.

Green JS et al. (1989) The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

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43.

Farag TI et al. (1988) Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.

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44.

Harnett JD et al. (1988) The spectrum of renal disease in Laurence-Moon-Biedl syndrome.

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45.

Alton DJ et al. (1973) Urographic findings in the Bardet-Biedl syndrome, formerly the Laurence-Moon-Biedl syndrome.

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46.

None (1971) Familial translocation t(2p-; 17p+).

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47.

Emberger JM et al. (1970) [Digito-palmar dermatoglyphics of a group of Tunisians].

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48.

Chang RJ et al. (1981) Hypogonadotropic hypogonadism associated with retinitis pigmentosa in a female sibship: evidence for gonadotropin deficiency.

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49.

Schachat AP et al. (1982) Bardet-Biedl syndrome and related disorders.

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50.

Pagon RA et al. (1982) Hepatic involvement in the Bardet-Biedl syndrome.

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51.

Haning RV et al. (1980) Virilism as a late manifestation in the Bardet-Biedl syndrome.

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52.

Croft JB et al. (1995) Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome.

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53.

Stoler JM et al. (1995) Genital abnormalities in females with Bardet-Biedl syndrome.

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54.

Elbedour K et al. (1994) Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.

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55.

Işlek I et al. (1996) Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease.

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56.

Beales PL et al. (1997) Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

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57.

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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58.

OMIM.ORG article

Omim 615981 external link
Update: Aug. 14, 2020
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