Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Bardet-Biedl-Syndrom 3

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 1
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 2
Bardet-Biedl-Syndrom 20
Bardet-Biedl-Syndrom 3
ARL6
Bardet-Biedl-Syndrom 4
Bardet-Biedl-Syndrom 5
Bardet-Biedl-Syndrom 6
Bardet-Biedl-Syndrom 7
Bardet-Biedl-Syndrom 8
Bardet-Biedl-Syndrom 9

Referenzen:

1.

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2.

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

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3.

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4.

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5.

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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6.

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7.

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8.

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9.

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10.

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11.

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12.

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13.

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16.

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17.

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18.

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19.

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20.

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21.

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22.

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23.

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24.

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

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25.

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

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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.

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28.

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29.

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

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30.

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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31.

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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32.

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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33.

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

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34.

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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35.

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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36.

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

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37.

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38.

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39.

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40.

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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.

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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48.

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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49.

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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50.

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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51.

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

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52.

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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53.

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

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54.

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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55.

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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56.

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

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57.

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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58.

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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59.

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

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60.

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61.

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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