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The molecular genetics of Bardet-Biedl syndrome
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
11377969
retrieved
1 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
The molecular genetics of Bardet-Biedl syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11377969
retrieved
1 August 2017
main subject
molecular genetics
1 reference
based on heuristic
inferred from title
Bardet-Biedl syndrome
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inferred from title
author name string
Sheffield VC
series ordinal
1
1 reference
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Europe PubMed Central
PubMed ID
11377969
retrieved
1 August 2017
Nishimura D
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
11377969
retrieved
1 August 2017
Stone EM
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
11377969
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1 August 2017
publication date
1 June 2001
1 reference
stated in
Europe PubMed Central
PubMed ID
11377969
retrieved
1 August 2017
published in
Current Opinion in Genetics & Development
1 reference
stated in
Europe PubMed Central
PubMed ID
11377969
retrieved
1 August 2017
volume
11
1 reference
stated in
Europe PubMed Central
PubMed ID
11377969
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1 August 2017
issue
3
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stated in
Europe PubMed Central
PubMed ID
11377969
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1 August 2017
page(s)
317-321
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stated in
Europe PubMed Central
PubMed ID
11377969
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1 August 2017
cites work
Urographic findings in the Bardet-Biedl syndrome, formerly the Laurence-Moon-Biedl syndrome
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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High incidence of Bardet Biedl syndrome among the Bedouin.
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Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31
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Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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Erratum: finckh U, Schroder J, ressler B, veske A, gal A. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J med genet 92:40-46
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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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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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM
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The McKusick-Kaufman syndrome: Recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease
1 reference
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Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity?
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Genetic and physical mapping of the McKusick-Kaufman syndrome
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Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
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Mutations in MKKS cause Bardet-Biedl syndrome
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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The mouse fidgetin gene defines a new role for AAA family proteins in mammalian development.
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The AAA team: related ATPases with diverse functions
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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Assignment of the human homologue of the mTRiC-P5 gene (TRIC5) to band 1q23 by fluorescence in situ hybridization
1 reference
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Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization
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Cloning of a novel C-terminal kinesin (KIFC3) that maps to human chromosome 16q13-q21 and thus is a candidate gene for Bardet-Biedl syndrome
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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cDNA cloning and chromosomal localization of human alpha(11) integrin. A collagen-binding, I domain-containing, beta(1)-associated integrin alpha-chain present in muscle tissues
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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Characterization of a novel C-kinesin (KIFC3) abundantly expressed in vertebrate retina and RPE.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21-->q22.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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Genomic structure and chromosomal localization of the mouse gene Punc.
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Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
1 reference
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https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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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
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900196-9
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7 January 2021
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Identifiers
DOI
10.1016/S0959-437X(00)00196-9
1 reference
stated in
Europe PubMed Central
PubMed ID
11377969
retrieved
1 August 2017
PubMed ID
11377969
1 reference
stated in
Europe PubMed Central
PubMed ID
11377969
retrieved
1 August 2017
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