(Q43547156)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23535966%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter (English)

1 reference

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27 February 2020

8

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27 February 2020

Kouji H Harada

11

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27 February 2020

author name string

Junxia Yan

1

1 reference

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27 February 2020

Tsutomu Takahashi

2

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27 February 2020

Toshihiro Ohura

3

1 reference

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27 February 2020

Hiroyuki Adachi

4

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27 February 2020

Ikuko Takahashi

5

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27 February 2020

Eishin Ogawa

6

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27 February 2020

Hiroko Okuda

7

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27 February 2020

Toshiaki Hitomi

9

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27 February 2020

Wanyang Liu

10

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27 February 2020

Akio Koizumi

12

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27 February 2020

publication date

28 March 2013

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Journal of Human Genetics

27 February 2020

published in

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27 February 2020

volume

58

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27 February 2020

issue

6

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27 February 2020

page(s)

366-377

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https://scigraph.springernature.com/pub.10.1038/jhg.2013.20

27 February 2020

exact match

0 references

cites work

The genetics of euthyroid familial goiter

1 reference

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Molecular pathogenesis of euthyroid and toxic multinodular goiter

21 January 2018

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Risk factors for goiter and thyroid nodules

21 January 2018

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Major role of genes in the etiology of simple goiter in females: a population-based twin study

21 January 2018

1 reference

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Genetic and environmental causes of individual differences in thyroid size: a study of healthy Danish twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Mapping a dominant form of multinodular goiter to chromosome Xp22

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Past, present, and future of environmental specimen banks

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

A method and server for predicting damaging missense mutations

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.20

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.20

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2013.20

Carrier testing for severe childhood recessive diseases by next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Genetics of congenital hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Linkage analysis in the next-generation sequencing era

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Next-generation DNA sequencing methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

RGS family members: GTPase-activating proteins for heterotrimeric G-protein alpha-subunits

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Importing mitochondrial proteins: machineries and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

The DNA sequence of human chromosome 21

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

CLIC6, a member of the intracellular chloride channel family, interacts with dopamine D(2)-like receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Linkage of Familial Euthyroid Goiter to the Multinodular Goiter-1 Locus and Exclusion of the Candidate Genes Thyroglobulin, Thyroperoxidase, and Na+/I- Symporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

Endemic goitre in Greece: a study of 379 twin pairs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

7 January 2021

Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

7 January 2021

A new locus for a dominant form of multinodular goiter on 3q26.1-q26.3.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

7 January 2021

Expression of regulators of g protein signaling mRNA is differentially regulated in hot and cold thyroid nodules

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

7 January 2021

TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.20

7 January 2021

Identifiers

DOI

10.1038/JHG.2013.20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23535966%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference