upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts-Reference-Cited by-同舟云学术

upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts

Published:2020-03-11 Issue:6 Volume:97 Page:902-907
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Hjortshøj Tina D.¹²^ORCID,Sørensen Anna R.¹,Yusibova Melodi¹,Hansen Bo M.³,Dunø Morten²,Balslev‐Harder Marie²,Grønskov Karen¹,Hagen Johanna M.⁴,Polstra Abeltje M.⁴,Eggermann Thomas⁵^ORCID,Finken Martijn J.J.⁶,Tümer Zeynep¹⁷^ORCID

Affiliation:

1. Department of Clinical Genetics, Kennedy Center, Copenhagen University HospitalRigshospitalet Glostrup Denmark

2. Department of Clinical Genetics, Copenhagen University HospitalRigshospitalet Copenhagen Denmark

3. Department of Pediatrics, Copenhagen University HospitalHerlev and Gentofte Herlev Denmark

4. Department of Clinical Genetics, Amsterdam UMCVrije Universiteit Amsterdam Amsterdam The Netherlands

5. Institute of Human GeneticsTechnical University of Aachen Aachen Germany

6. Emma Children's Hospital, Amsterdam UMCVrije Universiteit Amsterdam, Pediatric Endocrinology Amsterdam The Netherlands

7. Department of Clinical Medicine, Faculty of Health and Medical SciencesUniversity of Copenhagen Copenhagen Denmark

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13727

Reference13 articles.

1. Diagnosis and management of Silver–Russell syndrome: first international consensus statement

2. Uniparental Disomy and Imprinting Disorders

3. High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

4. Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

5. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Approach to the Patient With Suspected Silver-Russell Syndrome;The Journal of Clinical Endocrinology & Metabolism;2024-06-18

2. Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review;Current Pediatric Reviews;2023-05

3. Low-level mosaic trisomy 20 without uniparental disomy 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes and perinatal progressive decrease of the aneuploid cell line;Taiwanese Journal of Obstetrics and Gynecology;2023-05

4. Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic trisomy 20 at amniocentesis in a pregnancy with a favorable outcome;Taiwanese Journal of Obstetrics and Gynecology;2022-01

5. When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20;Molecular Cytogenetics;2021-05-05