A rapid microarray based whole genome analysis for detection of uniparental disomy-Reference-Cited by-同舟云学术

A rapid microarray based whole genome analysis for detection of uniparental disomy

Published:2005 Issue:2 Volume:26 Page:153-159
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Altug-Teber Özge,Dufke Andreas,Poths Sven,Mau-Holzmann Ulrike Angelika,Bastepe Murat,Colleaux Laurence,Cormier-Daire Valérie,Eggermann Thomas,Gillessen-Kaesbach Gabriele,Bonin Michael,Riess Olaf

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q)

2. Paternal Uniparental Isodisomy of Chromosome 20q—and the Resulting Changes in GNAS1 Methylation—as a Plausible Cause of Pseudohypoparathyroidism

3. Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation

4. Uniparental disomy: clinical indications for testing in growth retardation

5. A new genetic concept: Uniparental disomy and its potential effect, isodisomy

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2. SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory;Pathology;2023-10

3. Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment;International Journal of Molecular Sciences;2022-07-02

4. High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects;The Journal of Clinical Endocrinology & Metabolism;2021-06-22

5. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis;Ophthalmic Genetics;2021-06-22