Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21-Reference-Cited by-同舟云学术

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

Published:2019-06-25 Issue:8 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Pelleri Maria Chiara¹,Cicchini Elena¹,Petersen Michael B.²³,Tranebjærg Lisbeth⁴⁵,Mattina Teresa⁶,Magini Pamela⁷,Antonaros Francesca¹,Caracausi Maria¹,Vitale Lorenza¹,Locatelli Chiara⁸,Seri Marco⁹,Strippoli Pierluigi¹,Piovesan Allison¹^ORCID,Cocchi Guido¹⁰

Affiliation:

1. Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Unit of Histology, Embryology and Applied Biology University of Bologna Bologna (BO) Italy

2. Department of Genetics Aalborg University Hospital Aalborg Denmark

3. Department of Clinical Genetics Aalborg University Aalborg Denmark

4. Department of Clinical Genetics/Rigshospitalet The Kennedy Centre Glostrup Denmark

5. University of Copenhagen, Institute of Clinical Medicine, The Panum Institute Copenhagen N Denmark

6. Department of Pediatrics Medical Genetics University of Catania Italy

7. Medical Genetics Unit St. Orsola‐Malpighi Polyclinic Bologna (BO) Italy

8. Neonatology Unit St. Orsola‐Malpighi Polyclinic Bologna (BO) Italy

9. Medical Genetics Unit, Department of Medical and Surgical Sciences (DIMEC) St. Orsola‐Malpighi Polyclinic, University of Bologna Bologna (BO) Italy

10. Neonatology Unit, Department of Medical and Surgical Sciences (DIMEC) St. Orsola‐Malpighi Polyclinic, University of Bologna Bologna (BO) Italy

Funder

Fondazione Umano Progresso, Milano, Italy

Centro Universitario Cattolico, Italy

Illumia S.p.A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.797

Reference56 articles.

1. Molecular analysis of chromosome 21 in a patient with a phenotype of down syndrome and apparently normal karyotype

2. Chromosome 21-Encoded microRNAs (mRNAs): Impact on Down’s Syndrome and Trisomy-21 Linked Disease

3. Down syndrome–a gene dosage disease caused by trisomy of genes within a small segment of the long arm of chromosome 21, exemplified by the study of effects from the superoxide‐dismutase type 1 (SOD‐1) gene;Anneren G.;APMIS Supplementum,1993

4. Down syndrome and the complexity of genome dosage imbalance

5. A case of apparent trisomy 21 without the Down's syndrome phenotype.

Cited by 24 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. Machine learning based analysis for intellectual disability in Down syndrome;Heliyon;2023-09

2. Incidence of urological tumors in Down’s syndrome: a systematic review and meta-analysis;International Urology and Nephrology;2023-06-27

3. Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association;BMC Medical Genomics;2022-12-21

4. Partial trisomy 21 with or without highly restricted-Down syndrome critical region (HR- DSCR). Report of two new cases and reanalysis of the genotype-phenotype association;2022-12-07

5. One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage;Frontiers in Medicine;2022-12-01