(Q26775950)

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Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature

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scholarly article

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1 reference

6 November 2020

1 reference

PubMed publication ID

Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature (English)

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optic nerve glioma

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6 November 2020

precocious puberty

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6 November 2020

1 reference

6 November 2020

neurofibromatosis type I

1 reference

6 November 2020

gonadotropin-releasing hormone family

1 reference

17 November 2019

1 reference

20 November 2019

Neurofibromin 1

1 reference

19 December 2019

1

object named as

Mirjana Kocova

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Elena Sukarova-Angelovska

3

object named as

Elena Sukarova-Angelovska

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2

object named as

Elena Kochova

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language of work or name

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publication date

15 December 2015

13 references

5 March 2019

24 March 2019

3 April 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

17 November 2019

20 November 2019

18 December 2019

19 December 2019

6 November 2020

BMC Endocrine Disorders

13 references

5 March 2019

24 March 2019

3 April 2019

22 April 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

17 November 2019

20 November 2019

18 December 2019

19 December 2019

6 November 2020

15

0 references

1

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82

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copyright license

Creative Commons Attribution 4.0 International

13 references

Europe PubMed Central

5 March 2019

Europe PubMed Central

24 March 2019

Europe PubMed Central

3 April 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

20 June 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

14 September 2019

Europe PubMed Central

17 November 2019

Europe PubMed Central

20 November 2019

Europe PubMed Central

18 December 2019

Europe PubMed Central

19 December 2019

Europe PubMed Central

6 November 2020

copyright status

0 references

on focus list of Wikimedia project

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Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

7 April 2017

Neuroendocrine Morbidity After Pediatric Optic Gliomas: A Longitudinal Analysis of 166 Children Over 30 Years.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

Functional outcome measures for NF1-associated optic pathway glioma clinical trials

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

Neurofibromatosis type 1: diagnosis and recent advances

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

Visual acuity in children with low grade gliomas of the visual pathway: implications for patient care and clinical research.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

Neurofibromatosis type 1 revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

Growth and pubertal disorders in neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

Genetics of neurofibromatosis 1 and the NF1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 September 2017

Rescue of a Drosophila NF1 mutant phenotype by protein kinase A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

31 May 2018

Precocious puberty in children with neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

31 May 2018

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

31 May 2018

Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

31 May 2018

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).

1 reference

https://api.crossref.org/works/10.1186%2FS12902-015-0076-4

21 January 2018

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

https://api.crossref.org/works/10.1186%2FS12902-015-0076-4

21 January 2018

Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments

1 reference

https://api.crossref.org/works/10.1186%2FS12902-015-0076-4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2FS12902-015-0076-4

21 January 2018

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1186%2FS12902-015-0076-4

21 January 2018

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

1 reference

https://api.crossref.org/works/10.1186%2FS12902-015-0076-4

21 January 2018

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

1 reference

https://api.crossref.org/works/10.1186%2FS12902-015-0076-4

21 January 2018

Optic pathway gliomas in patients with neurofibromatosis type 1: follow-up of 44 patients

1 reference

https://api.crossref.org/works/10.1186%2FS12902-015-0076-4

21 January 2018

Patterns of associations of clinical features in neurofibromatosis 1 (NF1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 November 2018

Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4678666

28 November 2018

Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/26666878

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurofibromatosis type 1 and precocious puberty

1 reference

https://pubmed.ncbi.nlm.nih.gov/26666878

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26666878

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/26666878

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/26666878

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S12902-015-0076-4

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