Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH (Q33904927)

29 July 2017

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

1 reference

Adrianus Henricus Maria Geurts van Kessel

29 July 2017

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1 reference

13

Ad Geurts van Kessel

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Didier Lacombe

Didier Lacombe

12

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Joris A Veltman

Joris A Veltman

1

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Joris R Vermeesch

7

Joris Vermeesch

2 references

ORCID Public Data File 2021

29 July 2017

Jean-Pierre Fryns

9

Jean-Pierre Fryns

1 reference

29 July 2017

13

Ad Geurts van Kessel

1 reference

29 July 2017

Yvonne Jonkers

2

1 reference

29 July 2017

Inge Nuijten

3

1 reference

29 July 2017

Irene Janssen

4

1 reference

29 July 2017

Walter van der Vliet

5

1 reference

29 July 2017

Erik Huys

6

1 reference

29 July 2017

Griet Van Buggenhout

8

1 reference

29 July 2017

Ronald Admiraal

10

1 reference

29 July 2017

Paulien Terhal

11

1 reference

29 July 2017

Dominique Smeets

14

1 reference

29 July 2017

Eric F P M Schoenmakers

15

1 reference

29 July 2017

Conny M van Ravenswaaij-Arts

16

1 reference

29 July 2017

language of work or name

English

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publication date

9 May 2003

1 reference

American Journal of Human Genetics

29 July 2017

1 reference

29 July 2017

72

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29 July 2017

6

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29 July 2017

1578-1584

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Characterizing the physical genome

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

SALL3, a new member of the human spalt-like gene family, maps to 18q23.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Cloning and characterization of ZNF236, a glucose-regulated Kruppel-like zinc-finger gene mapping to human chromosome 18q22-q23.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Structural organization and chromosomal localization of three human galanin receptor genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Molecular characterization of patients with 18q23 deletions.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Molecular analysis of the 18q- syndrome--and correlation with phenotype.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

External ear malformations: epidemiology, genetics, and natural history

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Congenital aural atresia in 18q deletion or de Grouchy syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180319

PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18

29 October 2018

1 reference

12 December 2020

Association of external auditory canal atresia, vertical talus, and hypertelorism: Confirmation of rasmussen syndrome

1 reference

12 December 2020

Classification of Congenital Aural Atresia and Results of Reconstructive Surgery

1 reference

12 December 2020

Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/375695

1 reference

29 July 2017

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29 July 2017

1 reference