(Q34325410)

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Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

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scholarly article

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Europe PubMed Central

PubMed publication ID

1 August 2017

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). (English)

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Europe PubMed Central

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1 August 2017

congenital disorder

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Fowzan S Alkuraya

3

object named as

Fowzan Alkuraya

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1 August 2017

author name string

Osama Alsmadi

1

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Europe PubMed Central

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1 August 2017

Brian F Meyer

2

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1 August 2017

Salma Wakil

4

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Europe PubMed Central

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1 August 2017

Fadi Alkayal

5

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1 August 2017

Haya Al-Saud

6

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1 August 2017

Khushnooda Ramzan

7

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1 August 2017

MoeenAldeen Al-Sayed

8

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1 August 2017

language of work or name

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publication date

13 August 2008

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1 August 2017

European Journal of Human Genetics

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Europe PubMed Central

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1 August 2017

17

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1 August 2017

1

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1 August 2017

14-21

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1 August 2017

Fgf3 is required for dorsal patterning and morphogenesis of the inner ear epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

1 reference

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Differential requirements for FGF3, FGF8 and FGF10 during inner ear development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia

1 reference

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Newborn hearing screening--a silent revolution

1 reference

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From deafness genes to hearing mechanisms: harmony and counterpoint

1 reference

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6 July 2018

Fibroblast growth factor 3, a protein with a dual subcellular fate, is interacting with human ribosomal protein S2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Identification of cis-element regulating expression of the mouse Fgf10 gene during inner ear development

1 reference

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6 July 2018

Sensorineural hearing loss in children.

1 reference

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6 July 2018

FGF8 initiates inner ear induction in chick and mouse

1 reference

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6 July 2018

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

1 reference

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6 July 2018

Requirements for FGF3 and FGF10 during inner ear formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Expression and function of FGF10 in mammalian inner ear development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Comprehensive human genome amplification using multiple displacement amplification

1 reference

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6 July 2018

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Identification of synergistic signals initiating inner ear development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

FGF/FGFR-2(IIIb) signaling is essential for inner ear morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Allegro, a new computer program for multipoint linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Molecular characteristics of fibroblast growth factor-fibroblast growth factor receptor-heparin-like glycosaminoglycan complex

1 reference

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6 July 2018

Structure and expression of a novel human FGF, FGF-19, expressed in the fetal brain

1 reference

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6 July 2018

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

1 reference

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6 July 2018

Refinement of the structure of human basic fibroblast growth factor at 1.6 A resolution and analysis of presumed heparin binding sites by selenate substitution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Genetic epidemiology of hearing impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

The int-2 proto-oncogene is responsible for induction of the inner ear

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Three-dimensional structure of human basic fibroblast growth factor, a structural homolog of interleukin 1 beta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Three-Dimensional Structures of Acidic and Basic Fibroblast Growth Factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985964

6 July 2018

Fibroblast growth factor 3, a protein with dual subcellular localization, is targeted to the nucleus and nucleolus by the concerted action of two nuclear localization signals and a nucleolar retention signal

1 reference

https://pubmed.ncbi.nlm.nih.gov/18701883

12 December 2020

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Wnt signals mediate a fate decision between otic placode and epidermis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18701883

12 December 2020

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inferred from PubMed ID database lookup

Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18701883

12 December 2020

based on heuristic

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The development of semicircular canals in the inner ear: role of FGFs in sensory cristae

1 reference

https://pubmed.ncbi.nlm.nih.gov/18701883

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2008.141

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Dimensions Publication ID

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

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