(Q30562543)

20 August 2017

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss (English)

1 reference

20 August 2017

0 references

1 reference

1 reference

8

Barbara McDonough

1 reference

20 August 2017

12

Christine E Seidman

1 reference

20 August 2017

9

Steven R DePalma

1 reference

20 August 2017

11

Jonathan G Seidman

1 reference

20 August 2017

4

Maria A Artunduaga

1 reference

20 August 2017

6

Patricia Jarrin

1 reference

20 August 2017

Kerry K Brown

1

1 reference

20 August 2017

Lucas M Viana

2

1 reference

20 August 2017

Cecilia C Helwig

3

1 reference

20 August 2017

Lourdes Quintanilla-Dieck

5

1 reference

20 August 2017

Gabriel Osorno

7

1 reference

20 August 2017

Roland D Eavey

10

1 reference

20 August 2017

11 July 2013

1 reference

20 August 2017

1 reference

20 August 2017

34

1 reference

20 August 2017

10

1 reference

20 August 2017

1347-1351

1 reference

Truncations of titin causing dilated cardiomyopathy.

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

Epidemiologic features and clinical subgroups of anotia/microtia in Texas.

20 June 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22367

Microtia: epidemiology and genetics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22367

Different levels of Hoxa2 are required for particular developmental processes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22367

Microtia in Finland: comparison of characteristics in different populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22367

Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22367

Homeotic transformation of branchial arch identity after Hoxa2 overexpression.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3883620

26 November 2018

Identifiers

DOI

10.1002/HUMU.22367

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

23775976

1 reference