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Bardet-Biedl-Syndrom 03

Das Bardet-Biedl-Syndrom 3 ist eine autosomal rezessive Erkrankung, die durch Mutationen im ARL6-Gen hervorgerufen wird.

Gliederung

Bardet-Biedl-Syndrom
Bardet-Biedl-Syndrom 01
Bardet-Biedl-Syndrom 02
Bardet-Biedl-Syndrom 03
ARL6
Bardet-Biedl-Syndrom 04
Bardet-Biedl-Syndrom 05
Bardet-Biedl-Syndrom 06
Bardet-Biedl-Syndrom 07
Bardet-Biedl-Syndrom 08
Bardet-Biedl-Syndrom 09
Bardet-Biedl-Syndrom 10
Bardet-Biedl-Syndrom 11
Bardet-Biedl-Syndrom 12
Bardet-Biedl-Syndrom 13
Bardet-Biedl-Syndrom 14
Bardet-Biedl-Syndrom 15
Bardet-Biedl-Syndrom 16
Bardet-Biedl-Syndrom 17
Bardet-Biedl-Syndrom 18
Bardet-Biedl-Syndrom 19
Bardet-Biedl-Syndrom 20

Referenzen:

1.

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

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2.

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

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3.

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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4.

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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5.

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6.

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

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9.

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10.

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11.

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13.

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14.

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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15.

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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17.

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19.

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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20.

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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21.

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

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22.

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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23.

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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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26.

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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27.

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

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28.

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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Young TL et al. (1998) Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

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30.

Ghadami M et al. (2000) Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.

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31.

Chiang AP et al. (2004) Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

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32.

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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33.

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34.

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35.

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

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36.

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37.

Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

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38.

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39.

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41.

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42.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

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51.

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52.

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53.

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54.

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

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55.

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56.

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57.

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

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58.

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59.

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60.

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61.

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62.

OMIM.ORG article

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Update: 14. August 2020
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