Familial aortic disease and a large duplication in chromosome 16p13.1-Reference-Cited by-同舟云学术

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Familial aortic disease and a large duplication in chromosome 16p13.1

Published:2018-02-14 Issue:3 Volume:6 Page:441-445
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Erhart Philipp¹^ORCID,Brandt Tobias²,Straub Beate K.³⁴,Hausser Ingrid³,Hentze Sabine⁵,Böckler Dittmar¹,Grond-Ginsbach Caspar⁶

Affiliation:

1. Department of Vascular and Endovascular Surgery; University Hospital Heidelberg; Heidelberg Germany

2. Suva/Swiss National Accident Insurance Fund; Lucerne Switzerland

3. Department of Pathology; University Hospital Heidelberg; Heidelberg Germany

4. Department of Pathology; University Medicine Mainz; Mainz Germany

5. Human genetical practice; Heidelberg Germany

6. Department of Neurology; University Hospital Heidelberg; Heidelberg Germany

Funder

B. Braun-Stiftung

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference13 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Genetic testing in thoracic aortic disease-when, why, and how?;Bowdin;Canadian Journal of Cardiology,2016

3. Next generation sequencing analysis of patients with familial cervical artery dissection;Grond-Ginsbach;European Stroke Journal,2017

4. Genetic imbalance in patients with cervical artery dissection;Grond-Ginsbach;Current Genomics,2017

5. Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia;Grozeva;Schizophrenia Research,2012

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1. Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans;BMC Pregnancy and Childbirth;2023-08-19

2. Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients;European Journal of Medical Genetics;2023-04

3. 16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up;BMC Pregnancy and Childbirth;2022-12-07

4. Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection;Diagnostics;2022-07-22

5. Novel findings, mini‐review and dysmorphological characterization of 16p13.11 microduplication syndrome;International Journal of Developmental Neuroscience;2022-05-24

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