(Q57657390)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

15

Kathryn North

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

6

Victor-Felix Mautner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Joseph L Kissil

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Jaishri O Blakeley

2

1 reference

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16 January 2020

Susan M Huson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Michel Kalamarides

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Frank McCormick

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Helen Morrison

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Roger Packer

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Vijaya Ramesh

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Nancy Ratner

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Katherine A Rauen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

David A Stevenson

13

1 reference

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16 January 2020

Kim Hunter-Schaedle

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

language of work or name

English

0 references

publication date

1 February 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

16 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

152A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

269-283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene

16 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Hearing improvement after bevacizumab in patients with neurofibromatosis type 2

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Neurofibromatosis type 2 (NF2): a clinical and molecular review

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

2 November 2018

Neurofibromatosis type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

PAK kinase regulates Rac GTPase and is a potential target in human schwannomas

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Spred1 is required for synaptic plasticity and hippocampus-dependent learning

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Neurofibromatosis type 1 revisited

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Efficient tumour formation by single human melanoma cells

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Nf1 mutation expands an EGFR-dependent peripheral nerve progenitor that confers neurofibroma tumorigenic potential.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Pten haploinsufficiency accelerates formation of high-grade astrocytomas

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Altered adhesive structures and their relation to RhoGTPase activation in merlin-deficient Schwannoma

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

The loss of Nf1 transiently promotes self-renewal but not tumorigenesis by neural crest stem cells

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

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

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

The tumour-suppressor genes NF2/Merlin and Expanded act through Hippo signalling to regulate cell proliferation and apoptosis

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Early inactivation of p53 tumor suppressor gene cooperating with NF1 loss induces malignant astrocytoma

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Diagnostic criteria for schwannomatosis

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Role of the kinase MST2 in suppression of apoptosis by the proto-oncogene product Raf-1.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Nf2 gene inactivation in arachnoidal cells is rate-limiting for meningioma development in the mouse

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Clinical, Pathological, and Molecular Variables Predictive of Malignant Peripheral Nerve Sheath Tumor Outcome

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818482

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

30 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20082461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.33189

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20082461%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

20082461

1 reference