(Q33948913)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11381270%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11381270%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

0 references

Alessandro Iannaccone

9

1 reference

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8 November 2019

Alfonso Baldi

12

1 reference

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8 November 2019

Samuel G. Jacobson

16

1 reference

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8 November 2019

Edwin M. Stone

18

1 reference

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8 November 2019

Val C Sheffield

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11381270%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Kirk Mykytyn

1 reference

ORCID Public Data File 2021

author name string

Mykytyn K

1

1 reference

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8 November 2019

Braun T

2

1 reference

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8 November 2019

Carmi R

3

1 reference

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8 November 2019

Haider NB

4

1 reference

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8 November 2019

Searby CC

5

1 reference

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8 November 2019

Shastri M

6

1 reference

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8 November 2019

Beck G

7

1 reference

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8 November 2019

Wright AF

8

1 reference

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8 November 2019

Elbedour K

10

1 reference

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8 November 2019

Riise R

11

1 reference

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8 November 2019

Raas-Rothschild A

13

1 reference

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8 November 2019

Gorman SW

14

1 reference

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8 November 2019

Duhl DM

15

1 reference

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8 November 2019

Casavant T

17

1 reference

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8 November 2019

language of work or name

English

0 references

publication date

1 June 2001

1 reference

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8 November 2019

1 reference

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8 November 2019

volume

28

1 reference

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8 November 2019

page(s)

188-191

1 reference

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8 November 2019

issue

2

1 reference

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https://scigraph.springernature.com/pub.10.1038/88925

8 November 2019

exact match

0 references

cites work

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

1 reference

7 January 2021

The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

1 reference

7 January 2021

Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients

1 reference

7 January 2021

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

1 reference

7 January 2021

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

1 reference

7 January 2021

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

1 reference

7 January 2021

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

1 reference

7 January 2021

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

1 reference

7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

7 January 2021

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

1 reference

7 January 2021

The McKusick-Kaufman syndrome: Recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease

1 reference

7 January 2021

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

1 reference

7 January 2021

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

1 reference

7 January 2021

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

1 reference

7 January 2021

Alu repeats and human disease

1 reference

7 January 2021

SPINDLY, a tetratricopeptide repeat protein involved in gibberellin signal transduction in Arabidopsis

1 reference

7 January 2021

O-Linked GlcNAc transferase is a conserved nucleocytoplasmic protein containing tetratricopeptide repeats

1 reference

7 January 2021

Elevated O-linked N-acetylglucosamine metabolism in pancreatic beta-cells

1 reference

7 January 2021

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

1 reference

7 January 2021

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

1 reference

7 January 2021

Basic local alignment search tool

1 reference

7 January 2021

Protein family classification based on searching a database of blocks

1 reference

7 January 2021

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

7 January 2021

Identifiers

DOI

10.1038/88925

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11381270%20AND%20SRC:MED&resulttype=core&format=json

release_7trjujylj5fvhdonsvszimcila

8 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7trjujylj5fvhdonsvszimcila

24 November 2022

mapped directly with Wikidata item

1 reference