(Q24655621)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

Mohammad Hossein Sanati

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Mohammad Farhadi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Guy Van Camp

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

author name string

Fatemeh Alasti

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Abdorrahim Sadeghi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Elliot Stollar

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Thomas Somers

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

language of work or name

English

0 references

publication date

1 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

5 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

982-991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

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

5 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=2427268

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Temporal bone computed tomography findings in bilateral sensorineural hearing loss

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Analysis of TALE superclass homeobox genes (MEIS, PBC, KNOX, Iroquois, TGIF) reveals a novel domain conserved between plants and animals

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Crystal structures of engrailed homeodomain mutants: implications for stability and dynamics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Comparative protein modelling by satisfaction of spatial restraints

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Second branchial arch lineages of the middle ear of wild-type and Hoxa2 mutant mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Formation of the middle ear: recent progress on the developmental and molecular mechanisms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Temporal and spatial expression of Hoxa-2 during murine palatogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region. Mutations in brief no. 200. Online

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Hoxa2 and Hoxb2 control dorsoventral patterns of neuronal development in the rostral hindbrain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Role of Hoxa-2 in axon pathfinding and rostral hindbrain patterning

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Microtia grade as an indicator of middle ear development in aural atresia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Sensitivity, specificity, and positive predictive value of multiple malformations in isotretinoin embryopathy surveillance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Dominant mutation of the murine Hox-2.2 gene results in developmental abnormalities

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Vertebrate homeobox gene nomenclature

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Roles of Hoxa1 and Hoxa2 in patterning the early hindbrain of the mouse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

The genesis and evolution of homeobox gene clusters

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Genomic evolution of Hox gene clusters

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

The Hoxa2 enhancer 2 contains a critical Hoxa2 responsive regulatory element

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Clinical features, treatment and genetic background of Treacher Collins syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Syndromic ear anomalies and renal ultrasounds

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

The epidemiology of anotia and microtia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Homeodomain-DNA recognition

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Functional differences between HOX proteins conferred by two residues in the homeodomain N-terminal arm.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Epidemiology and genetics of microtia-anotia: a registry based study on over one million births

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Murine Hox-1.11 homeobox gene structure and expression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Determination of the identity of the derivatives of the cephalic neural crest: incompatibility between Hox gene expression and lower jaw development.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

De novo trisomy 22 due to an extra 22Q-chromosome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Homeobox genes in embryogenesis and pathogenesis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Microtia in Finland: comparison of characteristics in different populations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Hearing levels in patients with microtia: correlation with temporal bone malformation.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Hoxa2- and rhombomere-dependent development of the mouse facial somatosensory map.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Epidemiologic characteristics of anotia and microtia in California, 1989-1997.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

The homeobox gene Emx2 underlies middle ear and inner ear defects in the deaf mouse mutant pardon

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

ConSeq: the identification of functionally and structurally important residues in protein sequences.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Mesenchymal patterning by Hoxa2 requires blocking Fgf-dependent activation of Ptx1.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Congenital malformation of the inner ear associated with recurrent meningitis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

MAP2 expression in developing dendrites of human brainstem auditory neurons.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

[Clinico-epidemiologic study of microtia]

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Computer assisted diagnosis of malformation syndromes: an evaluation of three databases (LDDB, POSSUM, and SYNDROC).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Development of the mammalian ear: coordinate regulation of formation of the tympanic ring and the external acoustic meatus.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427268

Two rhombomeres are altered in Hoxa-1 mutant mice

28 November 2018

1 reference

12 December 2020

Apoptosis during inner ear development in human and mouse embryos: an analysis by computer-assisted three-dimensional reconstruction

1 reference

12 December 2020

Early evolutionary origin of major homeodomain sequence classes

1 reference

12 December 2020

Congenital microtia and meatal atresia; observations and aspects of treatment

1 reference

12 December 2020

[Hoxa2: a key gene for the facial somatosensory map]

1 reference

12 December 2020

Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002

1 reference

12 December 2020

Facial canal anatomy in patients with mandibulofacial dysostosis: comparison with respect to the severities of microtia and middle ear deformity

1 reference

12 December 2020

Review: children <2 years of age with bilateral acute otitis media and children with otorrhoea benefit most from antibiotics

1 reference

12 December 2020

Clinical analysis of 592 patients with microtia

1 reference

12 December 2020

Review: children <2 years of age with bilateral acute otitis media and children with otorrhoea benefit most from antibiotics.

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2008.02.015

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.AJHG.2008.02.015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

release_sfnaqezw4vdf5es4oo475zzb6e

5 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/sfnaqezw4vdf5es4oo475zzb6e

24 November 2022

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

4098509

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4098509

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18394579%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference