(Q38966411)

8 September 2017

title

Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients (English)

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8 September 2017

Mallory R Sdano

1

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8 September 2017

Rena J Vanzo

2

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8 September 2017

Megan M Martin

3

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8 September 2017

Erin E Baldwin

4

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8 September 2017

Sarah T South

5

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8 September 2017

Alan F Rope

6

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8 September 2017

William P Allen

7

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8 September 2017

Hutton Kearney

8

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8 September 2017

publication date

15 August 2014

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Journal of Genetic Counseling

8 September 2017

published in

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8 September 2017

volume

23

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8 September 2017

issue

6

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8 September 2017

page(s)

922-927

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Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

8 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10897-014-9751-2

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-014-9751-2

Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-014-9751-2

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-014-9751-2

Comparison between DNA obtained from buccal cells of the upper and lower gutter area.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-014-9751-2

Pallister-Killian syndrome: cytogenetic and molecular studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-014-9751-2

aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-014-9751-2

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-014-9751-2

Buccal swabs and treated cards: methodological considerations for molecular epidemiologic studies examining pediatric populations

21 January 2018

1 reference

12 December 2020

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

1 reference

12 December 2020

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use

1 reference

12 December 2020

X chromosome aneuploidy in lymphocyte cultures from women with recurrent spontaneous abortions

1 reference

12 December 2020

Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients

1 reference

12 December 2020

Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray

1 reference

12 December 2020

Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region

1 reference

12 December 2020

Discordance between direct and PHA-stimulated chromosome preparations from neonates

1 reference

12 December 2020

10.1007/S10897-014-9751-2

Identifiers

DOI

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8 September 2017

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