نتائج البحث - "Katherine C MacKenzie"

1

Academic Journal

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

المصدر: PLoS Genetics, Vol 17, Iss 8, p e1009698 (2021)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/1c07ad4d76c24f9488439c5f30f264c2

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2

Academic Journal

Risk score comparison between Sanger sequenced and SNP-array genotyped samples.

Relation: https://figshare.com/articles/journal_contribution/Risk_score_comparison_between_Sanger_sequenced_and_SNP-array_genotyped_samples_/15127074

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s002

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3

Academic Journal

Rare CNVs detected in this cohort.

Relation: https://figshare.com/articles/journal_contribution/Rare_CNVs_detected_in_this_cohort_/15127083

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s005

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4

Academic Journal

Brightfield images of zebrafish larvae injected with slc8a1 gRNAs ( slc8a1a/slc8a1b ).

Relation: https://figshare.com/articles/journal_contribution/Brightfield_images_of_zebrafish_larvae_injected_with_i_slc8a1_i_gRNAs_i_slc8a1a_slc8a1b_i_/15127077

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s003

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5

Academic Journal

The Z-score distributions of total CNV size, CN loss and CN gain of controls and HSCR patients.

Relation: https://figshare.com/articles/journal_contribution/The_Z-score_distributions_of_total_CNV_size_CN_loss_and_CN_gain_of_controls_and_HSCR_patients_/15127071

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s001

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6

Academic Journal

Statistical comparisons.

Relation: https://figshare.com/articles/journal_contribution/Statistical_comparisons_/15127086

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s006

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7

Academic Journal

Brightfield images of zebrafish larvae injected with gRNAs.

Relation: https://figshare.com/articles/journal_contribution/Brightfield_images_of_zebrafish_larvae_injected_with_gRNAs_/15127080

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s004

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8

Academic Journal

HSCR disease gene characteristics.

Relation: https://figshare.com/articles/journal_contribution/HSCR_disease_gene_characteristics_/15127089

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s007

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9

Academic Journal

Rare CNV with “ENS genes”.

Relation: https://figshare.com/articles/journal_contribution/Rare_CNV_with_ENS_genes_/15127095

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s008

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10

Academic Journal

Risk haplotype markers and odds ratio’s used to calculate noncoding risk scores (RSnc).

Relation: https://figshare.com/articles/journal_contribution/Risk_haplotype_markers_and_odds_ratio_s_used_to_calculate_noncoding_risk_scores_RSnc_/15127101

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s010

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11

Academic Journal

Description of individual patient genetic risk profiles.

Relation: https://figshare.com/articles/journal_contribution/Description_of_individual_patient_genetic_risk_profiles_/15127104

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s011

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12

Academic Journal

Variant prioritization and WGS variant burden test results in genes impacted by rare CNV.

Relation: https://figshare.com/articles/journal_contribution/Variant_prioritization_and_WGS_variant_burden_test_results_in_genes_impacted_by_rare_CNV_/15127098

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s009

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13

Academic Journal

Primers used for Sanger sequencing.

Relation: https://figshare.com/articles/journal_contribution/Primers_used_for_Sanger_sequencing_/15127116

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s014

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14

Academic Journal

Details of the gRNA sequences used.

Relation: https://figshare.com/articles/journal_contribution/Details_of_the_gRNA_sequences_used_/15127110

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s013

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15

Academic Journal

Statistics, group sizes and gRNA efficiencies of zebrafish experiments.

Relation: https://figshare.com/articles/journal_contribution/Statistics_group_sizes_and_gRNA_efficiencies_of_zebrafish_experiments_/15127119

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s015

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16

Academic Journal

Primer sequences common predisposing SNPs.

Relation: https://figshare.com/articles/journal_contribution/Primer_sequences_common_predisposing_SNPs_/15127107

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s012

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17

Academic Journal

The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model

المؤلفون: Katherine C. MacKenzie, Rhiana Garritsen, Rajendra K. Chauhan, Yunia Sribudiani, Bianca M. de Graaf, Tim Rugenbrink, Rutger Brouwer, Wilfred F. J. van Ijcken, Ivo de Blaauw, Alice S. Brooks, Cornelius E. J. Sloots, Conny J. H. M. Meeuwsen, René M. Wijnen, Donald F. Newgreen, Alan J. Burns, Robert M. W. Hofstra, Maria M. Alves, Erwin Brosens

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 22; Pages: 12354

مصطلحات موضوعية: Enteric Nervous System, somatic mutation, Hirschsprung disease, missing heritability, gastrointestinal disease, motility disorder, developmental defects

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms222212354

الاتاحة: https://doi.org/10.3390/ijms222212354

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18

Size matters

المساهمون: Clinical Genetics, Pediatric Surgery

المصدر: PLoS Genetics, Vol 17, Iss 8, p e1009698 (2021)
PLoS Genetics, 17(8):1009698. Public Library of Science
PLoS Genetics

مصطلحات موضوعية: Life Cycles, Cancer Research, Candidate gene, Heredity, Epidemiology, Disease, QH426-470, Pediatrics, Enteric Nervous System, Mice, Larvae, Medicine and Health Sciences, Gene Regulatory Networks, Copy-number variation, Zebrafish, Genetics (clinical), Genetics, biology, Eukaryota, Animal Models, Genetic Mapping, Experimental Organism Systems, Osteichthyes, Vertebrates, Pediatric Gastroenterology, Anatomy, Research Article, DNA Copy Number Variations, Gastroenterology and Hepatology, Research and Analysis Methods, Model Organisms, SDG 3 - Good Health and Well-being, Animals, Humans, Gene Disruption, Genetic Predisposition to Disease, Hirschsprung Disease, Molecular Biology, Gene, Ecology, Evolution, Behavior and Systematics, Haplotype, Organisms, Biology and Life Sciences, Epistasis, Genetic, Human Genetics, biology.organism_classification, Human genetics, Gastrointestinal Tract, Disease Models, Animal, Fish, Haplotypes, Case-Control Studies, Medical Risk Factors, Animal Studies, Enteric nervous system, Zoology, Digestive System, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ffd6b90755de1ab4d3626dcb53e08d4
http://www.scopus.com/inward/record.url?scp=85114296624&partnerID=8YFLogxK

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19

Image

Complex HSCR genetics: Epistasis between ret and gnl1 and genetic predispositions of HSCR patient groups.

Relation: https://figshare.com/articles/figure/Complex_HSCR_genetics_Epistasis_between_ret_and_gnl1_and_genetic_predispositions_of_HSCR_patient_groups_/15127137

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.g005

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20

Gene content of rare CNV.

Relation: https://figshare.com/articles/dataset/Gene_content_of_rare_CNV_/15127122

الاتاحة: https://doi.org/10.1371/journal.pgen.1009698.s016

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