(Q35194587)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

1 reference

M Tassabehji

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

T Strachan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

M Sharland

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

A Colley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

D Donnai

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

R Harris

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

N Thakker

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

language of work or name

English

0 references

publication date

1 July 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%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:8317503%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:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

90-95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

Pulmonary stenosis, cafe-au-lait spots, and dull intelligence

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=1682238

Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

Vertical transmission of the neurofibromatosis/Noonan syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

Precise localization of NF1 to 17q11.2 by balanced translocation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

A 90 kb DNA deletion associated with neurofibromatosis type 1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

The neurofibromatosis type 1 gene encodes a protein related to GAP

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

A de novo Alu insertion results in neurofibromatosis type 1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

Somatic mutations in the neurofibromatosis 1 gene in human tumors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box 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=1682238

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682238

A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 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=1682238

Neurofibromatosis with fully expressed Noonan syndrome

27 September 2018

1 reference

12 December 2020

Physical mapping of a translocation breakpoint in neurofibromatosis

1 reference

12 December 2020

Noonan phenotype associated with neurofibromatosis

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17

1 reference

12 December 2020

Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8317503%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference