A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis-Reference-Cited by-同舟云学术

A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

Published:2020-04 Issue:6 Volume:97 Page:927-932
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Aagaard Nolting Line¹^ORCID,Brasch‐Andersen Charlotte¹,Cox Helen²,Kanani Farah³,Parker Michael³,Fry Andrew E.⁴,Loddo Sara⁵,Novelli Antonio⁵,Dentici Maria Lisa⁶^ORCID,Joss Shelagh⁷,Jørgensen Joan P.⁸,Fagerberg Christina R.¹^ORCID

Affiliation:

1. Department of Clinical GeneticsOdense University Hospital Odense Denmark

2. Clinical Genetics UnitWest Midlands Regional Clinical Genetics Unit Birmingham U.K. Birmingham UK

3. Sheffield Clinical Genetics ServiceNorthern General Hospital Sheffield UK

4. Institute of Medical GeneticsUniversity Hospital of Wales Cardiff UK

5. Laboratory of Medical GeneticsBambino Gesù Childrens' Hospital Rome Italy

6. Medical Genetics UnitBambino Gesù Children's Hospital Rome Italy

7. Clinical GeneticsWest of Scotland Genetic Services, the Queen Elisabeth University Hospital Glasgow UK

8. Hans Christian Andersen Children's HospitalOdense University Hospital Odense Denmark

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13739

Reference24 articles.

1. 1p36 deletion syndrome: an update;Jordan VK;Appl Clin Genet,2015

2. Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

3. Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

4. Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome

5. Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

Cited by 6 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. Expanding the Etiology of Oculo–Auriculo–Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36;International Journal of Molecular Sciences;2022-12-20

2. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients;American Journal of Medical Genetics Part A;2022-11-11

3. Czech family confirms the new 1p36.13‐1p36.12 microdeletion syndrome;Clinical Genetics;2022-06-21

4. Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders;Cell;2022-05

5. Haplotype-resolved inversion landscape reveals hotspots of mutational recurrence associated with genomic disorders;2021-12-20