Výsledky vyhledávání - "Heather L. Newkirk"

Determination of genomic copy number with quantitative microsphere hybridization

Autor: Heather L. Newkirk, Peter K. Rogan, Mauricio Miralles, Joan H.M. Knoll

Publikováno v: Human Mutation. 27:376-386

We developed a novel quantitative microsphere suspension hybridization (QMH) assay for determination of genomic copy number by flow cytometry. Single copy (sc) products ranging in length from 62 to 2,304 nucleotides [Rogan et al., 2001; Knoll and Rog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5482c2c2dcb7da6a6801911a5368bb21
https://doi.org/10.1002/humu.20312

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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

Autor: Swapan K. Nath, Uppala Radhakrishna, Jeffrey C. Murray, Heather L Newkirk, Merlin G. Butler, Uppala Ratnamala, Stylianos E. Antonarakis, David B. Everman, Frédérique Béna, Celi Sun, Maryline Gagnebin, Amit K. Maiti, Charles E. Schwartz, Ken McElreavey, Andrew J. Sharp

Publikováno v: Journal of Medical Genetics, Vol. 49, No 4 (2012) pp. 270-6

Background Omphalocele is a congenital birth defect characterised by the presence of internal organs located outside of the ventral abdominal wall. The purpose of this study was to identify the underlying genetic mechanisms of a large autosomal domin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f389652def45babbb044ee12d8212c27
https://archive-ouverte.unige.ch/unige:34647

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Distortion of Quantitative Genomic and Expression Hybridization by Cot-1 DNA: Mitigation of This Effect

Autor: Joan H.M. Knoll, Heather L. Newkirk, Peter K. Rogan

Publikováno v: Biochemistry Publications
Nucleic Acids Research

Cross-hybridization of repetitive sequences in genomic and expression arrays is reported to be suppressed with repeat-blocking nucleic acids (C(o)t-1 DNA). Contrary to expectation, we demonstrated that C(o)t-1 also enhanced non-specific hybridization

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5a08f05d25be80b5a1230416dcd8186
https://ir.lib.uwo.ca/biochempub/11

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Determination of genomic copy number with quantitative microsphere hybridization

Autor: Mauricio Miralles, Heather L. Newkirk, Joan H.M. Knoll, Peter K. Rogan

Publikováno v: Human Mutation. 27:597-597

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::00d4ce5c3a02519c86ae81dc9ed20acb
https://doi.org/10.1002/humu.20372

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