(Q30445566)

21 September 2017

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere (English)

1 reference

21 September 2017

8

S P Daiger

1 reference

21 September 2017

H. Northrup

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

24 September 2022

D. J. Kwiatkowski

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

24 September 2022

E. S. Roach

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

24 September 2022

W. B. Dobyns

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

24 September 2022

R. A. Lewis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

24 September 2022

G. E. Herman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

24 September 2022

E. Rodriguez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

24 September 2022

S. H. Blanton

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

24 September 2022

language of work or name

English

0 references

publication date

1 October 1992

1 reference

PMCID

1682771

full work available at URL

21 September 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1415216/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1415216/pdf/?tool=EBI

24 September 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

https://europepmc.org/articles/PMC1682771

24 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

https://europepmc.org/articles/PMC1682771?pdf=render

24 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415216

American Journal of Human Genetics

24 September 2022

published in

1 reference

21 September 2017

51

1 reference

21 September 2017

709-720

1 reference

21 September 2017

4

1 reference

Strategies for multilocus linkage analysis in humans

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Diagnostic and genetical aspects of tuberous sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

A mapped set of genetic markers for human chromosome 9.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Estimating the power of a proposed linkage study for a complex genetic trait.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Evidence that the gene for tuberous sclerosis is on chromosome 9

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Evidence for genetic heterogeneity in tuberous sclerosis

20 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

20 June 2018

12 December 2020

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14!

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Dinucleotide repeat polymorphism at the GSN locus (9q32-34).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Dinucleotide repeat polymorphism at the ABL locus (9q34).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Genetic heterogeneity in tuberous sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Non-penetrance in tuberous sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Causes of Death in Patients With Tuberous Sclerosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Construction of a GT polymorphism map of human 9q

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682771

Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982

20 June 2018

1 reference

12 December 2020

Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset

1 reference

12 December 2020

Family studies in tuberous sclerosis. evaluation of apparently unaffected parents

1 reference

12 December 2020

A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus

1 reference

12 December 2020

Detection of tuberous sclerosis in parents by magnetic resonance imaging

1 reference

12 December 2020

Absence of linkage of ABO blood group locus to familial tuberous sclerosis

1 reference

12 December 2020

Examining the parents of children with tuberous sclerosis

1 reference

12 December 2020

Linkage of tuberous sclerosis to ABO blood group

1 reference

12 December 2020

Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis

1 reference

12 December 2020

Identifiers

PMCID

1682771

1 reference

21 September 2017

1 reference

PMCID

1682771