(Q71599217)

English

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms

scientific article published on 01 April 1996

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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:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

P Gasparini

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

L D'Agruma

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

G Pio de Cillis

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

P Balestrazzi

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

R Mingarelli

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

L Zelante

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

publication date

1 April 1996

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

97

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

492-495

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

https://scigraph.springernature.com/pub.10.1007/bf02267073

0 references

Mutational analysis of patients with neurofibromatosis 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic organization of the neurofibromatosis 1 gene (NF1).

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NF1-related locus on chromosome 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of familial adenomatous polyposis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The neurofibromatosis type 1 gene encodes a protein related to GAP

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NF1: a prevalent cause of tumorigenesis in human cancers?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8834249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02267073

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8834249%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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