Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome (Q33816386)

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22 January 2020

title

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome (English)

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22 January 2020

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8

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22 January 2020

10

Thomas B Friedman

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22 January 2020

1

Saima Riazuddin

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22 January 2020

7

Sheikh Riazuddin

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22 January 2020

3

Rashmi S Hegde

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22 January 2020

4

Shaheen N Khan

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22 January 2020

6

Uzma Shaukat

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22 January 2020

11

Byung Yoon Choi

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22 January 2020

author name string

Zubair M Ahmed

series ordinal

2

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22 January 2020

Idrees Nasir

series ordinal

5

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22 January 2020

Andrew J Griffith

series ordinal

9

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22 January 2020

publication date

9 February 2011

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22 January 2020

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22 January 2020

volume

12

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22 January 2020

page(s)

21

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Structural basis of conserved cysteine in the fibroblast growth factor family: evidence for a vestigial half-cystine

22 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

A catechol-O-methyltransferase that is essential for auditory function in mice and humans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Newborn hearing screening--a silent revolution

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Mutations in different components of FGF signaling in LADD syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Structural basis for fibroblast growth factor receptor activation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Sensorineural hearing loss in children.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

The crystal structure of fibroblast growth factor (FGF) 19 reveals novel features of the FGF family and offers a structural basis for its unusual receptor affinity

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Requirements for FGF3 and FGF10 during inner ear formation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Structural basis by which alternative splicing confers specificity in fibroblast growth factor receptors

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Role of heparan sulfate in fibroblast growth factor signalling: a structural view

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Temporal bone computed tomography findings in bilateral sensorineural hearing loss

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

CT and MR findings of Michel anomaly: inner ear aplasia.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

The glycine box: a determinant of specificity for fibroblast growth factor

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Receptor specificity of the fibroblast growth factor family

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Profound childhood deafness. Inner ear pathology.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Congenital malformations of the inner ear: a classification based on embryogenesis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Expression of the FGF-related proto-oncogene int-2 during gastrulation and neurulation in the mouse

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Michel's anomaly, type I microtia and microdontia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Use of laboratory evaluation and radiologic imaging in the diagnostic evaluation of children with sensorineural hearing loss.

4 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/1471-2350-12-21

Three familial cases of Michel's aplasia.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/1471-2350-12-21

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042908

Michel dysplasia. Common cavity inner ear deformity

30 October 2018

1 reference

12 December 2020

Classification of congenital deformities of the auricle

1 reference

12 December 2020

Conversion of cysteine to serine residues alters the activity, stability, and heparin dependence of acidic fibroblast growth factor

1 reference

12 December 2020

THALIDOMIDE-INDUCED APLASIA OF THE INNER EAR

1 reference

12 December 2020

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-12-21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21306635 AND SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

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22 January 2020

PubMed publication ID

21306635

1 reference