Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1-Reference-Cited by-同舟云学术

Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

Published:2022-07-26 Issue:11 Volume:30 Page:1239-1243
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Alesi Viola^ORCID,Lepri Francesca Romana,Dentici Maria Lisa,Genovese Silvia,Sallicandro Ester,Bejo Kristel,Dallapiccola Bruno,Capolino Rossella,Novelli Antonio,Digilio Maria Cristina

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01153-3.pdf

Reference27 articles.

1. Kallionpää RA, Uusitalo E, Leppävirta J, Pöyhönen M, Peltonen S, Peltonen J. Prevalence of neurofibromatosis type 1 in the Finnish population. Genet Med. 2018;20:1082–6.

2. Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021;23:1506–13.

3. Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007;80:140–51.

4. Smith MJ, Urquhart JE, Harkness EF, Miles EK, Bowers NL, Byers HJ, et al. The contribution of whole gene deletions and large rearrangements to the mutation spectrum in inherited tumor predisposing syndromes. Hum Mutat. 2016;37:250–6.

5. Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, et al. High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation. Hum Mutat. 2015;36:1052–63.

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. OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT;BMC Medical Genomics;2023-11-13

2. Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies;Journal of Human Genetics;2023-10-11

3. Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene;International Journal of Molecular Sciences;2023-09-28

4. OGM and WES Identifies Translocation Breakpoints in PKD1 Gene in an Polycystic Kidney Patient and Healthy Baby Delivered Using PGT;2023-06-27

5. Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements;Biomolecules;2023-04-23