(Q67513370)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1346385%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

title

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1346385%20AND%20SRC:MED&resulttype=core&format=json

neurofibromatosis 1 genes

14 September 2019

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346385

16 September 2022

author name string

K. Stephens

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346385

16 September 2022

L. Kayes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346385

16 September 2022

V. M. Riccardi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346385

16 September 2022

M. Rising

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346385

16 September 2022

V. P. Sybert

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346385

16 September 2022

R. A. Pagon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1346385

16 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1346385

16 September 2022

publication date

1 January 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1346385%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1346385%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1346385%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1346385%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

page(s)

279-282

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1346385%20AND%20SRC:MED&resulttype=core&format=json

Recurrence risk of a new dominant mutation in children of unaffected parents

14 September 2019

cites work

1 reference

12 December 2020

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

1 reference

12 December 2020

Parental origin of mutations of the retinoblastoma gene

1 reference

12 December 2020

Identification of more than 500 RFLPs by screening random genomic clones

1 reference

12 December 2020

Genetic analysis of NF1: identification of close flanking markers on chromosome 17.

1 reference

12 December 2020

Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster

1 reference

12 December 2020

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

12 December 2020

The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations.

1 reference

12 December 2020

Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families

1 reference

12 December 2020

Spontaneous mutation in man

1 reference

12 December 2020

Genetic analysis of eight loci tightly linked to neurofibromatosis 1

1 reference

12 December 2020

Molecular organization and haplotype analysis of centromeric DNA from human chromosome 17: implications for linkage in neurofibromatosis

1 reference

12 December 2020

Tightly linked markers for the neurofibromatosis type 1 gene

1 reference

12 December 2020

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

1 reference

12 December 2020

Characterization of a spontaneous mutation to a beta-thalassemia allele

1 reference

12 December 2020

American paternal age data for selected years from 1876 to 1981.

1 reference

12 December 2020

The neurofibromatosis type 1 gene encodes a protein related to GAP

1 reference

12 December 2020

Temporal and regional changes in DNA methylation in the embryonic, extraembryonic and germ cell lineages during mouse embryo development

1 reference

12 December 2020

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

12 December 2020

Parental age in acondroplasia and mongolism

1 reference

12 December 2020

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

12 December 2020

Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17.

1 reference

12 December 2020

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

1 reference

12 December 2020

Refined physical and genetic mapping of the NF1 region on chromosome 17

1 reference

12 December 2020