Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients-Reference-Cited by-同舟云学术

Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients

Published:2023-04 Issue:4 Volume:66 Page:104714
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Hamad Asma,Sherlaw-Sturrock Charlotte A.^ORCID,Glover Kate,Salmon Rachel,Low Karen^ORCID,Nair Ramya,Sansbury Francis H.^ORCID,Rawlins LettieE.^ORCID,Carmichael Jenny,Horton Rachael,Wedderburn Sarah,Edgerley Katherine,Irving Rachel,Callaghan Mary,Mercer Catherine,McGowan Ruth,Robert Leema,Titheradge Hannah^ORCID,Naik Swati

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference15 articles.

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2. Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier;Delicado;BMC Med. Genet.,2014

3. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation;Erdogan;Cytogenet. Genome Res.,2006

4. Familial aortic disease and a large duplication in chromosome 16p13.1;Erhart;Mol. Genet. Genomic. Med.,2018

5. A chromosome 16p13.11 microduplication causes hyperactivity through dysregulation of miR-484/protocadherin-19 signaling;Fujitani;Mol. Psychiatr.,2017

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1. De novo and inherited micro-CNV at 16p13.11 in 21 Chinese patients with defective cardiac left-right patterning;Frontiers in Genetics;2024-09-09

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