Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. - Wikidata - wikimedia - TriplyDB

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

http://www.wikidata.org/entity/Q34581759

about

Genetic Services in the Sultanate of Oman and other Gulf Countries: Progress is needed now!Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.The molecular basis of retinal dystrophies in pakistan.Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine.A systematic review of genetic syndromes with obesity.Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.An autosomal genome-wide screen for celiac disease in Bedouin families.Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

P2860

Q34782975-669507CB-D87E-464B-8D96-9DF99B290B9E Q35221428-27E8AD3C-59FC-4AAF-A537-8540992D7E24 Q36740244-669FA74F-D7FF-4E6F-86A6-C80ED0B0A2EC Q37314640-AE92D929-D0B1-4199-91A0-73353BD08D9C Q37689840-8A88DEB1-138A-49D2-83F6-01083914E346 Q37822862-D7D7279E-5C31-46B8-AF5F-430C525F4DD9 Q39202448-9F8DAFB6-C44E-428F-B183-1D3BA3ED403F Q41106456-859FE89C-94C6-44FF-A8C0-AF3E42963278 Q43209196-8AAF5787-EC08-402C-8C51-DE2E52E39E1E Q46452127-1DBCF13C-E49A-4494-98B1-73DE0D84B489 Q47228492-FC4C189F-63AC-4CE9-8ACC-756D358FBC4B Q53155688-EB3DDC45-4088-48B4-8E9B-27140C58C860

P2860

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

http://www.wikidata.org/entity/Q34581759

description

2006 nî lūn-bûn

@nan

2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2006年の論文

@ja

2006年論文

@yue

2006年論文

@zh-hant

2006年論文

@zh-hk

2006年論文

@zh-mo

2006年論文

@zh-tw

2006年论文

@wuu

name

Autozygosity mapping of Bardet ...... irmation of FLJ23560 as BBS10.

@ast

Autozygosity mapping of Bardet ...... irmation of FLJ23560 as BBS10.

@en

Autozygosity mapping of Bardet ...... irmation of FLJ23560 as BBS10.

@nl

type

label

Autozygosity mapping of Bardet ...... irmation of FLJ23560 as BBS10.

@ast

Autozygosity mapping of Bardet ...... irmation of FLJ23560 as BBS10.

@en

Autozygosity mapping of Bardet ...... irmation of FLJ23560 as BBS10.

@nl

prefLabel

Autozygosity mapping of Bardet ...... irmation of FLJ23560 as BBS10.

@ast

Autozygosity mapping of Bardet ...... irmation of FLJ23560 as BBS10.

@en

Autozygosity mapping of Bardet ...... irmation of FLJ23560 as BBS10.

@nl

P1433

Q34581759-D9A6C817-37C2-44E1-96B9-9F063528C331

P1476

Q34581759-36CD5940-6F6F-4696-A306-F7E86656F724

P2093

Q34581759-26CF6352-7EEE-4F88-BC77-13A1352BDACE

Q34581759-2EC7869C-6852-435C-BCC4-117EE9C6E7AD

Q34581759-4D3FA873-1F7B-4426-B4BC-17F9D3D44DF6

Q34581759-6A0416DE-AFDF-44AD-90DE-24B14597E590

Q34581759-73BB7366-0DEF-401E-915E-F1A1374FC373

Q34581759-7CD8F2B3-C26A-4D5F-A869-03E9D9A7B64F

Q34581759-994FD615-6B15-4442-8B43-84A7F90B61F4

Q34581759-A1A7F41D-2821-4560-8512-2621E87ACEEE

Q34581759-A9F381D5-4A06-4884-B730-76989BDDEAB1

Q34581759-C085BE8D-6927-4FFC-96AD-66F4C65B1DE7

P2860

Q34581759-023534A9-247C-4AA0-BD71-EA3953AC5EE3

Q34581759-05AF8917-2DB1-4D04-9833-29B2183A1156

Q34581759-0A5B136C-E6D2-458E-9358-9C70ED89C555

Q34581759-1727C044-F382-4891-AC9E-291EAC729069

Q34581759-22019AC0-77BD-4325-8C99-30864169810F

Q34581759-335BCD8D-1FC0-486F-9272-68D18F471A9F

Q34581759-49D1AE1D-B918-4773-8A08-289833B3321A

Q34581759-4D244293-F9CB-4E89-8134-D16BA58A7C6B

Q34581759-4D9DC60E-F869-4CB0-84E7-EAAFE2A62834

Q34581759-5451D650-AEA1-4E90-AAEA-12334DC7F8B6

P2888

Q34581759-DF38832F-63E2-4728-993B-EEC2CAD3B00D

P304

Q34581759-C603A8C2-E8CB-4D28-B427-2BE49DB4E8A7

P31

Q34581759-8F8686EC-7EB0-43C3-A390-E633D71E49DB

P356

Q34581759-1FD043CC-B0D8-4719-AD25-A9D44E459D9E

P433

Q34581759-8A463AD6-EE4F-43D9-82EC-8BFB17C61E03

P478

Q34581759-76391915-E58E-497A-8E9D-AC762A6E0ABD

P50

Q34581759-140580EF-D118-4B34-8D81-7A035F87EA38

Q34581759-7484D81E-339B-482A-A34C-651CABA69E16

Q34581759-89A2B72C-5133-45E7-A7CF-9ED526186C7E

Q34581759-8D4611A0-F3F2-4FAD-A7EA-695D97C02468

P577

Q34581759-67FAEA35-3EC3-4EFF-92A6-F9A596E35052

P5875

Q34581759-C33B2FFF-D7DE-434C-9395-1DAA626E6215

P698

Q34581759-38409DAB-2258-4801-9280-AAD7364F899A

P356

SJ.EJHG.5201736

P1433

European Journal of Human Genetics

P1476

Autozygosity mapping of Bardet ...... firmation of FLJ23560 as BBS10

@en

P2093

Anna Rajab

http://www.w3.org/2001/XMLSchema#string

Anuradha Ganesh

http://www.w3.org/2001/XMLSchema#string

Colin A Johnson

http://www.w3.org/2001/XMLSchema#string

Darryl Nishimura

http://www.w3.org/2001/XMLSchema#string

Dominic R A White

http://www.w3.org/2001/XMLSchema#string

Eleanor Rattenberry

http://www.w3.org/2001/XMLSchema#string

Eyal Banin

http://www.w3.org/2001/XMLSchema#string

Fiona Macdonald

http://www.w3.org/2001/XMLSchema#string

Sandy Raeburn

http://www.w3.org/2001/XMLSchema#string

Shakeel Ahmed

http://www.w3.org/2001/XMLSchema#string

P2860

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

P2888

sj.ejhg.5201736

P304

173-178

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1038/SJ.EJHG.5201736

http://www.w3.org/2001/XMLSchema#string

P433

2

http://www.w3.org/2001/XMLSchema#string

P478

15

http://www.w3.org/2001/XMLSchema#string

P50

Richard C Trembath

Val C Sheffield

P577

2006-11-15T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

6692135

http://www.w3.org/2001/XMLSchema#string

P698

17106446

http://www.w3.org/2001/XMLSchema#string