(Q24630412)

Joris A Veltman

8

0 references

Han G. Brunner

10

Han G Brunner

0 references

Cor W. R. J. Cremers

11

Cor W R J Cremers

0 references

Rolph Pfundt

5

Rolph Pfundt

0 references

Ronald J Admiraal

7

Ronald J Admiraal

0 references

Ilse Feenstra

1

Conny M A van Ravenswaaij-Arts

Ilse Feenstra

0 references

9

Conny M A van Ravenswaaij-Arts

0 references

Henricus Kunst

6

Henricus P Kunst

0 references

Ronald J E Pennings

3

Ronald J E Pennings

0 references

author name string

Willy Nillessen

American Journal of Human Genetics

4

0 references

language of work or name

English

0 references

publication date

9 December 2011

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published in

0 references

volume

89

0 references

issue

6

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page(s)

813-9

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Tshz1 is required for axial skeleton, soft palate and middle ear development in 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=3234381

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

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=3234381

Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Loss of the Sall3 gene leads to palate deficiency, abnormalities in cranial nerves, and perinatal lethality

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Hearing impairment in 18q deletion syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

27 September 2017

Congenital aural atresia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Congenital aural atresia: anatomy and surgical management

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Meatal atresia and hearing loss. Autosomal dominant and autosomal recessive inheritance.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Grading system for the selection of patients with congenital aural atresia.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

The role of the teashirt gene in trunk segmental identity in Drosophila

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Inherited Congenital Bilateral Atresia of the External Auditory Canal, Congenital Bilateral Vertical Talus and Increased Interocular Distance

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Narrowing critical regions and determining penetrance for selected 18q- phenotypes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic 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=3234381

Congenital aural atresia in 18q deletion or de Grouchy syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Congenital atresia of the ear in man and animals

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Vertebrate orthologues of the Drosophila region-specific patterning gene teashirt

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234381

Classification of Congenital Aural Atresia and Results of Reconstructive Surgery

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22152683

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Analysis of clinical variation seen in patients with 18q terminal deletions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22152683

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22152683

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.11.008

1 reference

1 reference

1 reference

PubMed publication ID

22152683

1 reference