(Q43209143)

16 November 2017

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1. (English)

1 reference

genotype-phenotype correlation

16 November 2017

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Claudia Santoro

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Daniela Melis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Silverio Perrotta

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Giulio Piluso

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Anna Maietta

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Teresa Giugliano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

publication date

13 May 2015

1 reference

European Journal of Human Genetics

16 November 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

1460-1461

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.93

11 June 2020

exact match

0 references

cites work

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

Cognitive and psychosocial phenotype of young children with neurofibromatosis-1.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

Molecular diagnosis of neurofibromatosis type 1: 2 years experience

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4613473

Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25966637

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Assessment of executive function and attention in children with neurofibromatosis type 1: Relationships between cognitive measures and real-world behavior

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25966637

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25966637%20AND%20SRC:MED&resulttype=core&format=json