(Q37682789)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

review article

1 reference

case report

1 reference

PubMed publication ID

20108502

title

Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

24 June 2019

1 reference

PubMed publication ID

1

Cristina Maria Mihai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

2

Doina Catrinoiu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Ramona Mihaela Stoicescu

series ordinal

4

object named as

Ramona Stoicescu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Ioan Tiberiu Tofolean

series ordinal

5

object named as

Ioan Tiberiu Tofolean

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

3

Jan Marshall

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

1 July 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

Journal of medicine and life

17 January 2020

published in

5 references

5 March 2019

22 April 2019

25 April 2019

24 June 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

254-261

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution

17 January 2020

copyright license

4 references

5 March 2019

22 April 2019

25 April 2019

24 June 2019

0 references

on focus list of Wikimedia project

ScienceSource

0 references

cites work

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

The primary cilium as the cell's antenna: signaling at a sensory organelle

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

The Ciliopathies: An Emerging Class of Human Genetic Disorders

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Alms1-disrupted mice recapitulate human Alström syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

The centrosome in human genetic disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Proteomic characterization of the human centrosome by protein correlation profiling

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

To beat or not to beat: roles of cilia in development and disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Low serum insulin-like growth factor I is associated with increased risk of ischemic heart disease: a population-based case-control study

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Re-evaluating centrosome function

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

The IGF-I receptor in cell growth, transformation and apoptosis.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

New Alström syndrome phenotypes based on the evaluation of 182 cases

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Seeking the optimal target range for insulin-like growth factor I during the treatment of adult growth hormone disorders

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5654309

Monitoring of growth hormone replacement therapy in adults, based on measurement of serum markers

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20108502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/20108502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Growth hormone and the heart

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20108502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20108502%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

20108502

1 reference