A large-scale genetic analysis of inherited retinal diseases in the Portuguese population identifies a unique pattern of mutations

被引：0
|
作者：
Kaminska, Karolina [1 ,2 ]
Peter, Virginie [1 ,2 ]
Santos, Cristina [3 ]
Quinodoz, Mathieu [1 ,2 ]
Cancellieri, Francesca [1 ,2 ]
Cisarova, Katarina [4 ]
Gobert, Rosanna [4 ]
Rodriguez, Raquel [5 ]
Custodio, Sonia [5 ]
Paris, Liliana [3 ]
Sousa, Ana [5 ,6 ]
Santos, Luisa [3 ]
Rivolta, Carlo [1 ,2 ]
机构：
[1] Inst Mol & Clin Ophthalmol Basel, Basel, Switzerland
[2] Univ Basel, Dept Ophthalmol, Basel, Switzerland
[3] Inst Oftalmol Doutor Gama Pinto, Dept Ophthalmol, Lisbon, Portugal
[4] Univ Lausanne, Dept Computat Biol, Lausanne, Switzerland
[5] Ctr Hosp Univ Lisboa Norte EPE, Dept Med Genet, Lisbon, Portugal
[6] Univ Lisbon, Lab Basic Immunol, Fac Med, Lisbon, Portugal
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2023年 / 64卷 / 08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：
引用
收藏
页数：4
相关论文
共 50 条
  • [1] The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
    Peter, Virginie G.
    Kaminska, Karolina
    Santos, Cristina
    Quinodoz, Mathieu
    Cancellieri, Francesca
    Cisarova, Katarina
    Gobert, Rosanna Pescini
    Rodrigues, Raquel
    Custodio, Sonia
    Paris, Liliana P.
    Sousa, Ana Berta
    Santos, Luisa Coutinho
    Rivolta, Carlo
    PNAS NEXUS, 2023, 2 (03):
  • [2] Genetic analysis on inherited retinal diseases in Greece
    Cancellieri, Francesca
    Nikopoulos, Konstantinos
    Quinodoz, Mathieu
    Ansar, Muhammad
    Kozeis, Nikolaos
    Tsenikoglou, Christina
    Triantafylla, Magda
    Giannopoulos, Theodoros
    Kozei, Athina
    Rivolta, Carlo
    Panagiotou, Evangelia S.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
  • [3] Carrier Frequency Analysis of Mutations Causing Recessive Inherited Retinal Diseases in the Israeli Population
    Sharon, Dror
    Allon, Gilad
    Kimchi, Adva
    Blumenfeld, Anat
    Newman, Hadas
    Pras, Eran
    Gradstein, Libe
    Banin, Eyal
    Ben-Yosef, Tamar
    Hanany, Mor
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
  • [4] Large-scale serum analysis identifies unique systemic biomarkers in psoriasis and hidradenitis suppurativa
    Navrazhina, K.
    Renert-Yuval, Y.
    Frew, J. W.
    Grand, D.
    Gonzalez, J.
    Williams, S. C.
    Garcet, S.
    Krueger, J. G.
    BRITISH JOURNAL OF DERMATOLOGY, 2022, 186 (04) : 684 - 693
  • [5] The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes
    Villanueva-Mendoza, Cristina
    Tuson, Miquel
    Apam-Garduno, David
    de Castro-Miro, Marta
    Tonda, Raul
    Remi Trotta, Jean
    Marfany, Gemma
    Valero, Rebeca
    Cortes-Gonzalez, Vianney
    Gonzalez-Duarte, Roser
    GENES, 2021, 12 (11)
  • [6] A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort
    Ullah, Mukhtar
    Rehman, Atta Ur
    Quinodoz, Mathieu
    Rashid, Abdur
    Cancellieri, Francesca
    Munir, Asad
    Kaminska, Karolina
    Iqbal, Afia
    Javed, Samra
    Dawood, Muhammad
    Baig, Hafiz Muhammad Azhar
    Saleha, Shamim
    Naz, Shagufta
    Kausar, Humera
    Waryah, Ali Muhammad
    Superti-Furga, Andrea
    Ansar, Muhammad
    Rivolta, Carlo
    NPJ GENOMIC MEDICINE, 2025, 10 (01)
  • [7] Large-scale genomic analysis of human iPSCs identifies recurrent somatic driver mutations
    Nature Genetics, 2022, 54 (9) : 1271 - 1272
  • [8] Large-scale genomic analysis of human iPSCs identifies recurrent somatic driver mutations
    Rouhani, Foad J.
    Nik-Zainal, Serena
    NATURE GENETICS, 2022, 54 (09) : 1271 - 1272
  • [9] Genetic control of heart rate in the general population - a large-scale genetic analysis
    Debiec, R.
    Nelson, C. P.
    Braund, P. S.
    Rodrigo, G.
    Tobin, M. D.
    Tomaszewski, M.
    Samani, N. J.
    EUROPEAN HEART JOURNAL, 2010, 31 : 149 - 149
  • [10] Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population
    Mor Hanany
    Gilad Allon
    Adva Kimchi
    Anat Blumenfeld
    Hadas Newman
    Eran Pras
    Ohad Wormser
    Ohad S. Birk
    Libe Gradstein
    Eyal Banin
    Tamar Ben-Yosef
    Dror Sharon
    European Journal of Human Genetics, 2018, 26 : 1159 - 1166
12345