Early Onset Macular Drusen associated to rare variants in CFH-gene

被引：0
|
作者：
Damiano, Luciana [1 ,2 ]
Karali, Marianthi [2 ,3 ,4 ]
Iodice, Clemente Maria [1 ,2 ]
Pisani, Danila [1 ,2 ]
Di Iorio, Valentina [1 ,2 ]
Nesti, Anna [1 ,2 ]
Melillo, Paolo [2 ,5 ]
Testa, Francesco [1 ,2 ]
Banfi, Sandro [2 ,3 ,4 ]
Simonelli, Francesca [1 ,2 ]
机构：
[1] Univ Campania Luigi Vanvitelli, Multidisciplinary Dept Med Surg & Dent Sci, Ye Clin, Naples, Italy
[2] Univ Campania Luigi Vanvitelli, Naples, Italy
[3] Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy
[4] Telethon Inst Genet & Med TIGEM, Pozzuoli, Italy
[5] Univ Campania Luigi Vanvitelli, Eye Clin, Multidisciplinary Dept Med Surg & Dent Sci, Via Pansini 5, I-80131 Naples, Italy
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2024年 / 65卷 / 07期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
4436
引用
收藏
页数：3
相关论文
共 50 条
  • [41] Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child
    Faruk Incecık
    Serdar Ceylaner
    Acta Neurologica Belgica, 2020, 120 : 733 - 735
  • [42] Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child
    Incecik, Faruk
    Ceylaner, Serdar
    ACTA NEUROLOGICA BELGICA, 2020, 120 (03) : 733 - 735
  • [43] Rare variants in complement genes associated with age-related macular degeneration result in a lower age at onset and higher familial occurrence
    Geerlings, Maartje
    Saksens, Nicole T. M.
    Bakker, Bjorn
    Schick, Tina
    Fauser, Sascha
    Boon, Camiel J. F.
    de Jong, Eiko
    Hoyng, Carel C. B.
    Den Hollander, Anneke I.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
  • [44] Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population
    Mori, Keisuke
    Gehlbach, Peter L.
    Kabasawa, Sho
    Kawasaki, Izumi
    Oosaki, Masataka
    Iizuka, Hiroyuki
    Katayama, Shigehiro
    Awata, Takuya
    Yoneya, Shin
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2007, 48 (11) : 5315 - 5319
  • [45] A candidate gene study of rare monogenic disorders with IBD-like phenotype identified rare variants in XIAP gene in a cohort of early-onset IBD patients
    Amininejad, L.
    Charloteaux, B.
    Theatre, E.
    Van Cauter, J.
    Hayard, P.
    Muls, V.
    Maisin, J. M.
    Schapira, M.
    Ghislain, J-M
    Closset, P.
    Talib, M.
    Abramowicz, M.
    Mni, M.
    Karim, L.
    Cambisano, N.
    Deviere, J.
    De Vos, M.
    Louis, E.
    Vermeire, S.
    Van Gossum, A.
    Coppieters, W.
    Georges, M.
    Franchimont, D.
    JOURNAL OF CROHNS & COLITIS, 2015, 9 : S71 - S72
  • [46] A Candidate Gene Study of Rare Monogenic Disorders With IBD-Like Phenotype Identified Rare Variants in XIAP Gene in a Cohort of Early-Onset IBD Patients
    Amininejad, Leila
    Charloteaux, Benoit
    Theatre, Emilie
    Van Cauter, Jacques
    Muls, Vinciane
    Maisin, Jean-Marc
    Schapira, Michael
    Abramowicz, Marc
    Mni, Myriam
    Karim, Latifa
    Cambisano, Nadine
    Deviere, Jacques
    De Vos, Martine
    Louis, Edouard
    Vermeire, Severine
    Van Gossum, Andre M.
    Coppieters, Wouter
    Georges, Michel
    Franchimont, Denis
    GASTROENTEROLOGY, 2015, 148 (04) : S81 - S82
  • [47] Novel Rare SORL1 Variants in Early-Onset Dementia
    Korpioja, Anita
    Kruger, Johanna
    Koivuluoma, Susanna
    Pylkas, Katri
    Moilanen, Virpi
    Helisalmi, Seppo
    Hiltunen, Mikko
    Remes, Anne M.
    JOURNAL OF ALZHEIMERS DISEASE, 2021, 82 (02) : 761 - 770
  • [48] PTPA variants are rare in early-onset and familial Parkinson's disease
    Dulski, Jaroslaw
    Soto-Beasley, Alexandra, I
    Uitti, Ryan J.
    Wszolek, Zbigniew K.
    Ross, Owen A.
    BRAIN, 2023, 146 (12) : E125 - E127
  • [49] Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer
    Agalliu, I.
    Karlins, E.
    Kwon, E. M.
    Iwasaki, L. M.
    Diamond, A.
    Ostrander, E. A.
    Stanford, J. L.
    BRITISH JOURNAL OF CANCER, 2007, 97 (06) : 826 - 831
  • [50] Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer
    I Agalliu
    E Karlins
    E M Kwon
    L M Iwasaki
    A Diamond
    E A Ostrander
    J L Stanford
    British Journal of Cancer, 2007, 97 : 826 - 831
12345