(Q24646722)

2

0 references

Justine Coppinger

3

0 references

Gordon C Gowans

4

0 references

Joseph H Hersh

5

0 references

Suneeta Madan-Khetarpal

6

0 references

Karen R Schmidt

7

0 references

Raymond Tervo

8

0 references

Luis F Escobar

9

0 references

Christopher A Friedrich

10

0 references

Marie McDonald

11

0 references

Lindsey Campbell

12

0 references

Jeffrey E Ming

13

0 references

Elaine H Zackai

14

0 references

Bassem A Bejjani

15

0 references

Lisa G Shaffer

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

16

0 references

language of work or name

English

0 references

publication date

2008

0 references

published in

Molecular Cytogenetics

0 references

volume

1

0 references

issue

1

0 references

page(s)

8

0 references

cites work

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

0 references

1 reference

1 reference

PubMed publication ID

18471269

1 reference