Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

被引：0
|
作者：
Giovanni Corsello
Vincenzo Antona
Gregorio Serra
Federico Zara
Clara Giambrone
Luca Lagalla
Maria Piccione
Ettore Piro
机构：
[1] University of Palermo,Department of Sciences for Health Promotion and Mother and Child Care “G. D’Alessandro”
[2] Institute G. Gaslini,Laboratory of Neurogenetics and Neuroscience
来源：
Italian Journal of Pediatrics | / 44卷
关键词：
gene; Genotype-phenotype correlation; New mutation; microdeletion syndrome;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [31] Clinical and healthcare status of patients with neurofibromatosis type 1
    Langenbruch, A. K.
    Augustin, M.
    Granstroem, S.
    Kluwe, L.
    Mautner, V. F.
    BRITISH JOURNAL OF DERMATOLOGY, 2011, 165 (01) : 225 - 227
  • [32] Longitudinal Clinical Characteristic of Patients with Neurofibromatosis Type 1
    Wassermann, Lorenz
    Stifter, Eva
    Rezar-Dreindl, Sandra
    Voith-Sturm, Victoria
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [33] CLINICAL AND GENOMIC CHARACTERIZATION OF A SINGLE-CENTER COHORT OF RENAL CELL CARCINOMA PATIENTS WITH KRAS MUTATION
    Lopez, Sanmiguel Andrea
    Ari, Hakimi A.
    Yash, Khandwala
    Posada, Calderon Lina
    Mark, Dawidek
    Ying-Bei, Chen
    Paul, Russo
    Jonathan, Coleman
    Maria, Carlo
    UROLOGIC ONCOLOGY-SEMINARS AND ORIGINAL INVESTIGATIONS, 2025, 43 (03)
  • [34] Selumetinib for symptomatic, inoperable plexiform neurofibromas in pediatric patients with neurofibromatosis type 1: the first single-center real-world case series in Japan
    Nishida, Yoshihiro
    Nonobe, Norie
    Kidokoro, Hiroyuki
    Kato, Taichi
    Takeichi, Takuya
    Ikuta, Kunihiro
    Urakawa, Hiroshi
    Sakai, Tomohisa
    Koike, Hiroshi
    Fujito, Takeo
    Imagama, Shiro
    JAPANESE JOURNAL OF CLINICAL ONCOLOGY, 2025,
  • [35] Updated features associated with type 1 gastric carcinoids patients: a single-center study
    Lahner, Edith
    Galli, Gloria
    Esposito, Gianluca
    Pilozzi, Emanuela
    Corleto, Vito D.
    Annibale, Bruno
    SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY, 2014, 49 (12) : 1447 - 1455
  • [36] Molecular characterization of KRAS NSCLC all stages: A single-center cohort
    Vicente, C. Climent
    Zurita, N. Lopez
    Joaquin, J. Giner
    Soriano, S.
    Fernandez, P. Ribera
    Rodriguez, M.
    Cobo, P. Andreu
    Godall, M. Busquets
    Gil, M. Fragio
    Cano, O. Cano I.
    Navas, A. Carrasco
    Boada, M. S. Sierra
    Martinez, L. Vila
    ANNALS OF ONCOLOGY, 2022, 33 (07) : S576 - S577
  • [37] Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1
    Wen Wang
    Weibing Qin
    Hongsong Ge
    Xiangsheng Kong
    Chao Xie
    Yunge Tang
    Ming Li
    Molecular Biology Reports, 2019, 46 : 4349 - 4359
  • [38] Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1
    Wang, Wen
    Qin, Weibing
    Ge, Hongsong
    Kong, Xiangsheng
    Xie, Chao
    Tang, Yunge
    Li, Ming
    MOLECULAR BIOLOGY REPORTS, 2019, 46 (04) : 4349 - 4359
  • [39] Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center
    Kocabey, Mehmet
    Ozkalayci, Hande
    Cankaya, Tufan
    Uzman, Ceren Yilmaz
    Caglayan, Ahmet Okay
    Ulgenalp, Ayfer
    Ercal, Murat Derya
    INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2023, 83 (05) : 456 - 465
  • [40] A Review of Spinal Lesions in Neurofibromatosis Type 1 in a Large Neurofibromatosis Type 1 Center
    Sial, Moska
    George, K. Joshi
    WORLD NEUROSURGERY, 2023, 169 : E157 - E163
12345