(Q38031747)

English

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

scientific article published on 02 August 2012

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scholarly article

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Europe PubMed Central

27 August 2017

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships (English)

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Europe PubMed Central

27 August 2017

autosomal recessive disease

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object named as

Lisa J Martin

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author name string

Kristen Lipscomb Sund

1

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Europe PubMed Central

27 August 2017

Sarah L Zimmerman

2

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Europe PubMed Central

27 August 2017

Cameron Thomas

3

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Europe PubMed Central

27 August 2017

Anna L Mitchell

4

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Europe PubMed Central

27 August 2017

Carlos E Prada

5

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27 August 2017

Lauren Grote

6

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27 August 2017

Liming Bao

7

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27 August 2017

Teresa A Smolarek

9

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27 August 2017

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publication date

2 August 2012

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27 August 2017

Genetics in Medicine

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27 August 2017

15

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1

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27 August 2017

70-78

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27 August 2017

https://scigraph.springernature.com/pub.10.1038/gim.2012.94

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Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

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https://api.crossref.org/works/10.1038%2FGIM.2012.94

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Autozygome decoded

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https://api.crossref.org/works/10.1038%2FGIM.2012.94

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UPD detection using homozygosity profiling with a SNP genotyping microarray

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https://api.crossref.org/works/10.1038%2FGIM.2012.94

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Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations

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https://api.crossref.org/works/10.1038%2FGIM.2012.94

7 January 2021

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Runs of homozygosity in European populations

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https://api.crossref.org/works/10.1038%2FGIM.2012.94

7 January 2021

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Extended tracts of homozygosity in outbred human populations

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https://api.crossref.org/works/10.1038%2FGIM.2012.94

7 January 2021

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Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain

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Homozygosity mapping: one more tool in the clinical geneticist's toolbox

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Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

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Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

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The costs of human inbreeding and their implications for variations at the DNA level

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Inbreeding in Saguenay-Lac-St-Jean (Quebec, Canada): A Study of Catholic Church Dispensations 1842&ndash;1971

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Inbreeding levels in American and Canadian populations: A comparison with Latin America

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Consanguinity studies in Wisconsin I: secular trends in consanguineous marriage, 1843-1981.

1 reference

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Identification of incestuous parental relationships by SNP-based DNA microarrays.

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https://api.crossref.org/works/10.1038%2FGIM.2012.94

7 January 2021

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Genomic runs of homozygosity record population history and consanguinity

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https://api.crossref.org/works/10.1038%2FGIM.2012.94

7 January 2021

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Coefficients of Inbreeding and Relationship

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7 January 2021

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The distribution of the proportion of the genome which is homozygous by descent in inbred individuals

1 reference

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Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies

1 reference

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Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis

1 reference

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"It's ok, we're not cousins by blood": the cousin marriage controversy in historical perspective

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.94

7 January 2021

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The family history: reemergence of an established tool

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.94

7 January 2021

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Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.94

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Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

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7 January 2021

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Identifiers

10.1038/GIM.2012.94

1 reference

Europe PubMed Central

27 August 2017

1 reference

Europe PubMed Central

27 August 2017

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