Identification of LargeNF1Duplications Reciprocal to NAHR-Mediated Type-1NF1Deletions-Reference-Cited by-同舟云学术

Identification of LargeNF1Duplications Reciprocal to NAHR-Mediated Type-1NF1Deletions

Published:2014-11-24 Issue:12 Volume:35 Page:1469-1475
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kehrer-Sawatzki Hildegard¹,Bengesser Kathrin¹,Callens Tom²,Mikhail Fady³,Fu Chuanhua²,Hillmer Morten¹,Walker Martha E.⁴,Saal Howard M.⁴,Lacassie Yves⁵,Cooper David N.⁶,Messiaen Ludwine²

Affiliation:

1. Institute of Human Genetics; University of Ulm; Ulm Germany

2. Medical Genomics Laboratory; Department of Genetics; University of Alabama at Birmingham; Birmingham Alabama

3. Cytogenetics Laboratory; Department of Genetics; University of Alabama at Birmingham; Birmingham Alabama

4. Division of Human Genetics; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

5. Louisiana State University Health Sciences Center and Children's Hospital; New Orleans Louisiana

6. Institute of Medical Genetics; School of Medicine; Cardiff University; Cardiff UK

Funder

Deutsche Forschungsgemeinschaft

Children's Tumor Foundation

UAB Medical Genomics Laboratory

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2;Bengesser;Hum Mutat,2010

2. Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination;Bengesser;Hum Mutat,2014

3. Café-au-lait spots in schoolchildren;Burwell;Arch Dis Child,1982

4. Replicative mechanisms for CNV formation are error prone;Carvalho;Nat Genet,2013

5. A copy number variation morbidity map of developmental delay;Cooper;Nat Genet,2011

Cited by 8 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. Rationale for haploinsufficiency correction therapy in neurofibromatosis type 1;Journal of Translational Genetics and Genomics;2022

2. Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients;Genes;2020-06-19

3. Acquired Chromosomal Abnormalities and Their Potential Formation Mechanisms in Solid Tumours;Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability;2017-08-30

4. Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients;neurogenetics;2017-03-11

5. Emerging genotype–phenotype relationships in patients with large NF1 deletions;Human Genetics;2017-02-17