Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. (Q35888988)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

L M Kayes

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

W Burke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

V M Riccardi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

R Bennett

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

P Ehrlich

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

A Rubenstein

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

K Stephens

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 March 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

number of pages

13

1 reference

American Journal of Human Genetics

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

page(s)

424-436

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

The neurofibromatosis type 1 gene

25 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=1918114

Genetic complementation reveals a novel regulatory role for 3' untranslated regions in growth and differentiation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Deletion and amplification of the HGPRT locus in Chinese hamster cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Pathogenesis of congenital defects associated with Turner's syndrome: the role of hypoalbuminemia and edema

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Vertical transmission of the neurofibromatosis/Noonan syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Genetic analysis of eight loci tightly linked to neurofibromatosis 1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Evi-2, a common integration site involved in murine myeloid leukemogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

A 90 kb DNA deletion associated with neurofibromatosis type 1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

The neurofibromatosis type 1 gene encodes a protein related to GAP

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

A de novo Alu insertion results in neurofibromatosis type 1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

The oligodendrocyte-myelin glycoprotein belongs to a distinct family of proteins and contains the HNK-1 carbohydrate

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type I

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Somatic mutations in the neurofibromatosis 1 gene in human tumors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

NF1-related locus on chromosome 15

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Neurofibromatosis type 1 gene mutations in neuroblastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918114

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

24 September 2018

1 reference

12 December 2020

Tightly linked markers for the neurofibromatosis type 1 gene

1 reference

12 December 2020

Neurofibromatosis with fully expressed Noonan syndrome

1 reference

12 December 2020

Noonan phenotype associated with neurofibromatosis

1 reference

12 December 2020

Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines

1 reference

12 December 2020

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

1 reference

12 December 2020

Immunochemical studies of organ and tumor lipids: VIII. Comparison of human tumor and ox spleen cytosides

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

The neurofibromatosis-Noonan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular analysis of neurofibromatosis type 1 mutations

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8116612%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

PubMed publication ID

8116612

1 reference