Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays (Q80510578)

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scientific article published on 01 February 2008

Language	Label	Description	Also known as
English	Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays	scientific article published on 01 February 2008

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scholarly article

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Europe PubMed Central

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1 January 2020

Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203177%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Marilyn M Li

1

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1 January 2020

Manjunath A Nimmakayalu

2

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1 January 2020

Danielle Mercer

3

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1 January 2020

Hans C Andersson

4

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1 January 2020

Beverly S Emanuel

5

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1 January 2020

publication date

1 February 2008

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1 January 2020

American Journal of Medical Genetics

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1 January 2020

146A

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1 January 2020

3

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1 January 2020

368-375

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1 January 2020

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two patients with ring chromosome 15 syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Terminal deletion of chromosome 15q26.1: case report and brief literature review

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ring chromosome 15: characterization by array CGH.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Repulsive guidance molecule plays multiple roles in neuronal differentiation and axon guidance.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simple method for preparation of fluor/hapten-labeled dUTP

1 reference

https://pubmed.ncbi.nlm.nih.gov/18203177

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.32116

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203177%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203177%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18203177%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

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