(Q35194828)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1

Easton DF

1 reference

29 October 2019

Ponder MA

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Huson SM

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Ponder BA

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

language of work or name

English

0 references

publication date

1 August 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

305-313

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

Neurofibromatosis in monozygotic twins: a case report

29 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682337

[Unusual manifestations of neurofibromatosis (von Recklinghausen's disease) in childhood. Abdominal tumor with clitoris hypertrophy. Renal hypertension caused by renal artery stenosis. Monozygotic twins--plexiform neuroma in the head region and glau

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682337

Analysis of family resemblance. 3. Complex segregation of quantitative traits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682337

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682337

Neurofibromatosis: variable expression is not intrinsic to the mutant gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682337

Penetrance and variability in neurofibromatosis: a genetic study of 60 families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682337

Brain stem gliomas causing hydrocephalus in twins with von Recklinghausen's disease.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682337

Neurofibromatosis in monozygotic twins: a case report of spontaneous mutation.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682337

Optic gliomata affecting twins with neurofibromatosis.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682337

Neurofibromatosis I: Predicting the relation of gene structure to gene function

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682337

A mixed-model likelihood approximation on large pedigrees

15 November 2018

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

Characterization of a panel of highly variable minisatellites cloned from human DNA

1 reference

12 December 2020

Neurofibromatosis and agenesis of the corpus callosum in identical twins: MR diagnosis

1 reference

12 December 2020

Programs for pedigree analysis: Mendel, Fisher, and dGene

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328449%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference