Cargando…

Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis

Detalles Bibliográficos
Autores principales:	Terry, Merryl, Gupta, Rohit, Ravindranathan, Ajay, Wu, Jasper, Chan, Emily, Bollen, Andrew W., Chang, Susan M., Berger, Mitchel S., Jacques, Line, Solomon, David A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2023
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10627975/ https://www.ncbi.nlm.nih.gov/pubmed/37821623 http://dx.doi.org/10.1007/s00401-023-02641-6

Ejemplares similares

Segmental schwannomatosis: characteristics in 12 patients
por: Alaidarous, Abdulqader, et al.
Publicado: (2019)

Segmental schwannomatosis: An uncommon cause of crural monoparesis
por: Cherian, Ajith, et al.
Publicado: (2012)

Polyradiculopathies from Schwannomatosis
por: Jia, Yuxia, et al.
Publicado: (2011)

Schwannomatosis of the Spinal Accessory Nerve: A Case Report
por: Morshed, Ramin A., et al.
Publicado: (2019)

Multiple Lower Extremity Mononeuropathies by Segmental Schwannomatosis: A Case Report
por: Kwon, Na Yeon, et al.
Publicado: (2015)

Schwannomatosis of Cervical Vagus Nerve
por: Abdulla, Faheem Ahmed, et al.
Publicado: (2016)

Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset
por: Domogala, Daniel D., et al.
Publicado: (2021)

Pain correlates with germline mutation in schwannomatosis
por: Jordan, Justin T., et al.
Publicado: (2018)

Including cannabinoids in the treatment of painful schwannomatosis
por: Iorno, Vittorio, et al.
Publicado: (2018)

A rare case of schwannomatosis of the extremities
por: Fodor, Lucian, et al.
Publicado: (2020)

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis
por: Mansouri, Sheila, et al.
Publicado: (2020)

Scrambler Therapy for the Treatment of Pain in Schwannomatosis
por: Murphy, Tyler, et al.
Publicado: (2022)

Important role of indels in somatic mutations of human cancer genes
por: Yang, Haiwang, et al.
Publicado: (2010)

Asymmetric somatic hybridization induces point mutations and indels in wheat
por: Wang, Mengcheng, et al.
Publicado: (2015)

Vestibular dysfunction in NF2–related schwannomatosis
por: Madhani, Amsal S, et al.
Publicado: (2023)

SNVSniffer: an integrated caller for germline and somatic single-nucleotide and indel mutations
por: Liu, Yongchao, et al.
Publicado: (2016)

Somatic Mosaicism in the Human Genome
por: Freed, Donald, et al.
Publicado: (2014)

Somatic mosaicism in the diseased brain
por: Iourov, Ivan Y., et al.
Publicado: (2022)

Schwannomatosis Involving Peripheral Nerves: A Case Report
por: Kim, Dong Hun, et al.
Publicado: (2006)

Dissecting genetic pathways in schwannomatosis and malignant rhabdoid tumour
por: Algar, E
Publicado: (2012)

Left atrial schwannoma in schwannomatosis: a case report
por: Yokoyama, Kenji, et al.
Publicado: (2021)

Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis
por: Tamura, Ryota
Publicado: (2021)

Screening of potential novel candidate genes in schwannomatosis patients
por: Perez‐Becerril, Cristina, et al.
Publicado: (2022)

Spinal Schwannomatosis Mimicking Metastatic Extramedullary Spinal Tumor
por: Nurdillah, Idris, et al.
Publicado: (2023)

Correction to: Vestibular dysfunction in NF2–related schwannomatosis
Publicado: (2023)

Porcine SOX9 Gene Expression Is Influenced by an 18bp Indel in the 5’-Untranslated Region
por: Brenig, Bertram, et al.
Publicado: (2015)

Varlociraptor: enhancing sensitivity and controlling false discovery rate in somatic indel discovery
por: Köster, Johannes, et al.
Publicado: (2020)

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival
por: Zaidi, Syed H., et al.
Publicado: (2020)

Discrepancies in indel software resolution with somatic CRISPR/Cas9 tumorigenesis models
por: Brockman, Qierra R., et al.
Publicado: (2023)

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism
por: Varela, Malena Daich, et al.
Publicado: (2021)

Somatic mosaicism in plants with special reference to somatic crossing over
por: Vig, Baldev K.
Publicado: (1978)

Does Hereditary Neuropathy with Liability to Pressure Palsy Predispose to Schwannomatosis?
por: Grapperon, Aude-Marie, et al.
Publicado: (2014)

Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1
por: Kehrer‐Sawatzki, Hildegard, et al.
Publicado: (2018)

Surgical treatment of common peroneal neuropathy in schwannomatosis: illustrative cases
por: North, Robert Y., et al.
Publicado: (2021)

COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis
por: Banerjee, Jineta, et al.
Publicado: (2023)

Hypothesis: Somatic Mosaicism and Parkinson Disease
por: Kim, Han-Joon, et al.
Publicado: (2014)

Somatic Genomic Mosaicism in Multiple Myeloma
por: Ye, Christine J., et al.
Publicado: (2020)

Somatic Mosaicism and Autism Spectrum Disorder
por: D’Gama, Alissa M.
Publicado: (2021)

Somatic Mosaicism in Blaschkolinear Inflammatory Disorders
por: Theodosakis, Nicholas, et al.
Publicado: (2016)

Structural and functional analysis of somatic coding and UTR indels in breast and lung cancer genomes
por: Chen, Jing, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_eonqrn7f6452qrpvq2eajfegro