(Q24646722)

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Justine Coppinger

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Gordon C Gowans

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Joseph H Hersh

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Suneeta Madan-Khetarpal

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Karen R Schmidt

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Raymond Tervo

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Luis F Escobar

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Christopher A Friedrich

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Marie McDonald

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Lindsey Campbell

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Jeffrey E Ming

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Elaine H Zackai

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Bassem A Bejjani

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Lisa G Shaffer

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

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language of work or name

English

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publication date

2008

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published in

Molecular Cytogenetics

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408925

3q29 microdeletion syndrome: clinical and molecular characterization of a new 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=2408925

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion 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=2408925

Characterization of a recurrent 15q24 microdeletion 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=2408925

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408925

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408925

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408925

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408925

Charcot-Marie-Tooth disease: lessons in genetic mechanisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408925

Molecular characterization of de novo secondary trisomy 13.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408925

3q29 interstitial microduplication: a new syndrome in a three-generation family.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408925

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408925

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408925

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18471269

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18471269

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18471269

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1755-8166-1-8

1 reference

Dimensions Publication ID

1036808259

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1 reference

1 reference

PubMed publication ID

18471269

1 reference