Cargando…

Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1

BACKGROUND: Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not been reported. METHODS: The medical charts of 26 Chinese patients with OPPN...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chai, Peiwei, Luo, Yingxiu, Zhou, Chuandi, Wang, Yefei, Fan, Xianqun, Jia, Renbing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749707/ https://www.ncbi.nlm.nih.gov/pubmed/31533651 http://dx.doi.org/10.1186/s12881-019-0877-9

Ejemplares similares

Orbital involvement by NUT midline carcinoma: new presentation and encouraging outcome managed by radiotherapy combined with tyrosine kinase inhibitor: a case report
por: Chai, Peiwei, et al.
Publicado: (2020)

The clinico-pathologic profile of primary and recurrent orbital/periorbital plexiform neurofibromas (OPPN)
por: Alabduljabbar, Mohammad, et al.
Publicado: (2021)

Orbital/Periorbital Plexiform Neurofibromas: Classification and Surgical Strategies for a Better Outcome
por: Yoshinaga, Akiko, et al.
Publicado: (2023)

Plexiform neurofibromatosis type 1
por: Sharma, Surendra K., et al.
Publicado: (2016)

Plexiform neurofibromatosis
por: Avhad, Ganesh, et al.
Publicado: (2014)

A novel LncRNA transcript, RBAT1, accelerates tumorigenesis through interacting with HNRNPL and cis-activating E2F3
por: He, Xiaoyu, et al.
Publicado: (2020)

Comprehensive circular RNA expression profiling with associated ceRNA network in orbital venous malformation
por: Yu, Jie, et al.
Publicado: (2022)

Multimodal therapy in the management of lacrimal gland adenoid cystic carcinoma
por: Yang, Jie, et al.
Publicado: (2019)

Quality of Life (QoL) and Psychosocial Outcomes in Adult Survivors of Unilateral Retinoblastoma (RB) in China
por: Feng, Yiyi, et al.
Publicado: (2020)

Dynamic chromosomal tuning of a novel GAU1 lncing driver at chr12p13.32 accelerates tumorigenesis
por: Chai, Peiwei, et al.
Publicado: (2018)

Contemporary update of overall prognosis and nomogram to predict individualized survival for Chinese patients with eyelid sebaceous carcinoma
por: Zhou, Chuandi, et al.
Publicado: (2018)

Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
por: Mao, Bin, et al.
Publicado: (2018)

Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1
por: Cacchione, Antonella, et al.
Publicado: (2021)

NFB-03. TRAMETINIB FOR ORBITAL PLEXIFORM NEUROFIBROMAS IN YOUNG CHILDREN WITH NF1
por: Toledano, Helen, et al.
Publicado: (2020)

LncRNA CANT1 suppresses retinoblastoma progression by repellinghistone methyltransferase in PI3Kγ promoter
por: Ni, Hongyan, et al.
Publicado: (2020)

Resection of small plexiform neurofibromas in neurofibromatosis type 1 children
por: Friedrich, Reinhard E, et al.
Publicado: (2005)

Nomogram for Preoperative Estimation of Orbit Invasion Risk in Periocular Squamous Cell Carcinoma
por: Xie, Minyue, et al.
Publicado: (2020)

Novel insight into the regulatory roles of diverse RNA modifications: Re-defining the bridge between transcription and translation
por: Shi, Hanhan, et al.
Publicado: (2020)

Plexiform neurofibromatosis involving face and oral cavity
por: Jayachandran, Dorairaj, et al.
Publicado: (2014)

Facial plexiform neurofibromatosis: A surgical challenge
por: Dogra, Bharat B., et al.
Publicado: (2013)

Plexiform neurofibromatosis of the liver: an extremely rare case
por: Gharekhanloo, Farideh, et al.
Publicado: (2022)

The recurrent plexiform neurofibroma of the scalp in neurofibromatosis type 1: illustrative case
por: Permana, Galih Indra, et al.
Publicado: (2021)

Epidemiological and clinical burden associated with plexiform neurofibromas in pediatric neurofibromatosis type-1 (NF-1): a systematic literature review
por: Iheanacho, Ike, et al.
Publicado: (2021)

Management of Orbital and Periorbital Venous Malformation
por: Benoiton, Lara A., et al.
Publicado: (2017)

Metastatic Esophageal Squamous Cell Carcinoma to the Orbit and Periorbit Masquerading as Periorbital Abscess
por: Lee, Ja Young, et al.
Publicado: (2010)

RARE-06. CLINICAL BURDEN AMONG PATIENTS WITH NEUROFIBROMATOSIS TYPE 1 (NF1) AND PLEXIFORM NEUROFIBROMA (PN) IN THE UNITED STATES (US)
por: Yang, Xiaoqin, et al.
Publicado: (2021)

Genetic alteration, RNA expression, and DNA methylation profiling of coronavirus disease 2019 (COVID-19) receptor ACE2 in malignancies: a pan-cancer analysis
por: Chai, Peiwei, et al.
Publicado: (2020)

Identification of Growth Hormone Receptor in Plexiform Neurofibromas of Patients with Neurofibromatosis Type 1
por: Cunha, Karin Soares Gonçalves, et al.
Publicado: (2008)

Neurofibromatosis Type 1 Presenting with Plexiform Neurofibromas in Two Patients: MRI Features
por: Halefoglu, Ahmet Mesrur
Publicado: (2012)

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas
por: Carrió, Meritxell, et al.
Publicado: (2019)

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas
por: Carrió, Meritxell, et al.
Publicado: (2019)

Giant Pelvic Neurofibroma in Patient with Plexiform Sciatic Neurofibroma and Neurofibromatosis Type 1
por: Temelkova, Ivanka, et al.
Publicado: (2019)

NFB-14. PSYCHOSOCIAL OUTCOMES IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 AND PLEXIFORM NEUROFIBROMAS
por: Damodharan, Sudarshawn, et al.
Publicado: (2020)

Neurofibromatosis Type 1 with a Giant Diffuse Plexiform Neurofibroma Invading the Liver
por: Yokogawa, Yuko, et al.
Publicado: (2023)

The Spectrum of NF1 Mutations in Korean Patients with Neurofibromatosis Type 1
por: Jeong, Seon-Yong, et al.
Publicado: (2006)

Tubercular Osteomyelitis of the Orbit Presenting as Periorbital Cellulitis
por: Bhattacharya, Shruti, et al.
Publicado: (2022)

Plexiform neurofibroma in the hepatic hilum associated with neurofibromatosis type 1: a case report
por: Hoshimoto, Sojun, et al.
Publicado: (2009)

Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells
por: Ferrer, Marc, et al.
Publicado: (2018)

Neurofibromatosis type 1 presenting with retinal detachment and laryngeal plexiform neurofibroma in a toddler
por: Hua, Hong-Uyen, et al.
Publicado: (2021)

Inhibition of YAP Sensitizes the Selumetinib Treatment for Neurofibromatosis Type 1 Related Plexiform Neurofibroma
por: Tian, Zhuowei, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_4r7st6icf10krvpcaii0ep788u