(Q36695350)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Marco Tartaglia

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Emanuele Agolini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Emanuele Agolini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Katia Margiotti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Alessandro Bruselles

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Caterina Fusilli

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Sara Bargiacchi

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Sandra Giustini

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Chiara Leoni

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Valentina Pinna

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Valentina Lanari

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Paola Daniele

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Federica Consoli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Irene Bottillo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Isabella Torrente

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Anna Ficcadenti

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Eva Trevisson

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Monica Forzan

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Giuseppe Zampino

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Maria Cristina Digilio

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Maurizio Clementi

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Alessandro De Luca

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

publication date

5 November 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

22 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

1068-1071

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

Pleckstrin homology (PH) like domains - versatile modules in protein-protein interaction platforms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

Familial café au lait spots: a variant of neurofibromatosis type 1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

Neurofibromatosis: clinical heterogeneity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795103

Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.243

NF1 gene analysis based on DHPLC

21 January 2018

1 reference

12 December 2020

Lethal presentation of neurofibromatosis and Noonan syndrome

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

1 reference

12 December 2020

Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2014.243

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

25370043

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25370043%20AND%20SRC:MED&resulttype=core&format=json