Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis (Q34350807)

1 August 2017

Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis (English)

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1 August 2017

15

Alexander F Wilson

1 reference

NISC Comparative Sequencing Program

1 August 2017

12

object named as

NISC Comparative Sequencing Program

1 reference

1 August 2017

13

James C Mullikin

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1 August 2017

Alexander Pemov

1

1 reference

1 August 2017

Heejong Sung

2

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1 August 2017

Paula L Hyland

3

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1 August 2017

Jennifer L Sloan

4

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1 August 2017

Sarah L Ruppert

5

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1 August 2017

Andrea M Baldwin

6

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1 August 2017

Joseph F Boland

7

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1 August 2017

Sara E Bass

8

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1 August 2017

Hyo Jung Lee

9

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1 August 2017

Kristine M Jones

10

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1 August 2017

Xijun Zhang

11

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1 August 2017

Brigitte C Widemann

14

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1 August 2017

Douglas R Stewart

16

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1 August 2017

16 October 2014

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1 August 2017

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1 August 2017

10

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10

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1 August 2017

e1004575

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Creative Commons CC0 License

1 August 2017

start time

16 October 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

Genetics of human gene expression

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ZBTB33 binds unmethylated regions of the genome associated with actively expressed genes

6 July 2018

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Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis

6 July 2018

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The zebrafish mutants for the V-ATPase subunits d, ac45, E, H and c and their variable pigment dilution phenotype

6 July 2018

1 reference

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ENCODE data in the UCSC Genome Browser: year 5 update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

The UCSC Genome Browser database: extensions and updates 2013.

6 July 2018

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Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions

6 July 2018

1 reference

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The NIH Roadmap Epigenomics Program data resource

6 July 2018

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Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Arlm1 is a male-specific modifier of astrocytoma resistance on mouse Chr 12.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Scram1 is a modifier of spinal cord resistance for astrocytoma on mouse Chr 5.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Unique modifications of translation elongation factors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

OVCA1 inhibits the proliferation of epithelial ovarian cancer cells by decreasing cyclin D1 and increasing p16.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Clinical and genetic aspects of neurofibromatosis 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Finding the missing heritability of complex diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Multi-tissue coexpression networks reveal unexpected subnetworks associated with disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Chr 19(A/J) modifies tumor resistance in a sex- and parent-of-origin-specific manner

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Pigment dilution mutants from fish models with connection to lysosome-related organelles and vesicular traffic genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

6 July 2018

Melanosomes at a glance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Identifying modifier genes of monogenic disease: strategies and difficulties.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Structure and regulation of the vacuolar ATPases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Genetics of gene expression and its effect on disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Dph3, a small protein required for diphthamide biosynthesis, is essential in mouse development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

An imprinted locus epistatically influences Nstr1 and Nstr2 to control resistance to nerve sheath tumors in a neurofibromatosis type 1 mouse model

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Uncovering regulatory pathways that affect hematopoietic stem cell function using 'genetical genomics'.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Complex trait analysis of gene expression uncovers polygenic and pleiotropic networks that modulate nervous system function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Genetic analysis of genome-wide variation in human gene expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Genetics of gene expression surveyed in maize, mouse and man

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

The vacuolar (H+)-ATPases--nature's most versatile proton pumps

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Modifier genes convert "simple" Mendelian disorders to complex traits

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Vacuolar and plasma membrane proton-adenosinetriphosphatases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Centiles for adult head circumference

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).

6 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004575

GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004575

Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004575

Genetical genomics: the added value from segregation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004575

Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004575

Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004575

Neurofibromatosis type 1 growth charts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004575

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Neurofibromatosis, skin hemangiomas, and arterial disease.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4199479

Modifier genes in humans: strategies for identification

27 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004575

[Diagnostic value of café-au-lait spots (author's transl)]

21 January 2018

1 reference

12 December 2020

In search of the Holy Grail: NF1 mutation analysis and genotype-phenotype correlation

1 reference

12 December 2020

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

1 reference

12 December 2020

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1

1 reference

12 December 2020

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

1 reference

12 December 2020

Natural variation in human gene expression assessed in lymphoblastoid cells

1 reference

12 December 2020

Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient

1 reference

12 December 2020

Angiomas and von Recklinghausen neurofibromatosis

1 reference

12 December 2020

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1004575

Identifiers

DOI

1 reference

1 August 2017

1 reference

1 August 2017

1 reference