(Q51777578)

English

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

scientific article published on 7 November 2006

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Elfride De Baere

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Jeyabalan Nallathambi

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Lara Moumné

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Diane Beysen

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Kim Usha

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Periasamy Sundaresan

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Reiner A Veitia

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

publication date

7 November 2006

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

121

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

107-112

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evolution and expression of FOXL2

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The other trinucleotide repeat: polyalanine expansion disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure, evolution and expression of the FOXL2 transcription unit

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion

1 reference

https://pubmed.ncbi.nlm.nih.gov/17089161

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-006-0276-0

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17089161%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

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