(Q24313229)

GOA release 2020-03-11

sulfate transport

1 reference

GOA release 2020-03-11

1 reference

B Glaser

2

0 references

Eric D. Green

12

object named as

E D Green

0 references

author name string

L A Everett

1

0 references

J C Beck

3

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J R Idol

4

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A Buchs

5

0 references

M Heyman

6

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F Adawi

7

0 references

E Hazani

8

0 references

E Nassir

9

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A D Baxevanis

10

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V C Sheffield

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

11

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language of work or name

English

0 references

publication date

December 1997

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published in

Nature Genetics

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volume

17

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issue

4

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page(s)

411-22

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cites work

1 reference

Thyroid hormone receptor beta is essential for development of auditory function

20 April 2017

1 reference

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

20 April 2017

1 reference

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q

20 April 2017

1 reference

A Gene Map of the Human Genome

20 April 2017

1 reference

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

20 April 2017

1 reference

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

20 April 2017

1 reference

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

20 April 2017

1 reference

Defective myosin VIIA gene responsible for Usher syndrome type 1B

20 April 2017

1 reference

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

20 April 2017

1 reference

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

20 April 2017

1 reference

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

20 April 2017

1 reference

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

20 April 2017

1 reference

Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening

20 April 2017

1 reference

Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites

20 April 2017

1 reference

Basic local alignment search tool

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

Pendred syndrome--100 years of underascertainment?

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

Hearing loss and cochlear abnormalities in the congenital hypothyroid (hyt/hyt) mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

A human chromosome 7 yeast artificial chromosome (YAC) resource: construction, characterization, and screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

The Down regulated in Adenoma (dra) gene encodes an intestine-specific membrane sulfate transport protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

Interpreting cDNA sequences: some insights from studies on translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

Transmembrane helices predicted at 95% accuracy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

Genes responsible for human hereditary deafness: symphony of a thousand

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

The EMBL Nucleotide Sequence Database.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

The Protein Information Resource (PIR) and the PIR-International Protein Sequence Database

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

The SWISS-PROT protein sequence data bank and its supplement TrEMBL

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

Prediction of O-glycosylation of mammalian proteins: specificity patterns of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

21 January 2018

DEAF-MUTISM AND GOITRE

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

https://api.crossref.org/works/10.1038%2FNG1297-411

1 reference

7 January 2021

ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Deafness with sporadic goiter. Pendred's syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Fifteen cases of Pendred's syndrome. Congenital deafness and sporadic goiter.

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

The variable intrafamiliar expressivity in Pendred's syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Mondini cochlea in Pendred's syndrome. A histological study

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients.

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

The association of deafness with thyroid dysfunction.

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Alpha and beta thyroid hormone receptor (TR) gene expression during auditory neurogenesis: evidence for TR isoform-specific transcriptional regulation in vivo

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Audiogenic Seizures and Cochlear Damage in Rats after Perinatal Antithyroid Treatment*

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Systematic generation of sequence-tagged sites for physical mapping of human chromosomes: Application to the mapping of human chromosome 7 using yeast artificial chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb.

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

A collection of 1814 human chromosome 7-specific STSs

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

High throughput fingerprint analysis of large-insert clones

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Identification of protein coding regions by database similarity search

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Regulation of translation in eukaryotic systems

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

https://api.crossref.org/works/10.1038%2FNG1297-411

1 reference

7 January 2021

The end of the beginning: the race to begin human genome sequencing

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Sulfation of thyroglobulin: a ubiquitous modification in vertebrates

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

ESTablishing a human transcript map

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

PowerBLAST: a new network BLAST application for interactive or automated sequence analysis and annotation

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

https://api.crossref.org/works/10.1038%2FNG1297-411

1 reference

7 January 2021

Multiple sequence alignment with hierarchical clustering

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

ALSCRIPT: a tool to format multiple sequence alignments

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Topology prediction for helical transmembrane proteins at 86% accuracy

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021

Genome maps 7. The human transcript map. Wall chart

1 reference

https://api.crossref.org/works/10.1038%2FNG1297-411

7 January 2021