Genotype-phenotype correlations of known and novel variants in the PRPH2 gene

被引:0
|
作者
Dockery, Adrian [1 ]
Whelan, Laura [1 ]
Khan, Mubeen [2 ,3 ]
Corradi, Zelia [2 ]
Stephenson, Kirk A. J. [4 ]
Zhu, Julia [4 ]
Kirk, Claire [5 ]
Cairns, Rebecca [5 ]
O'Byrne, James J. [4 ]
Turner, Jacqueline [4 ]
Dhaenens, Claire-Marie [6 ]
Silvestri, Giuliana [5 ]
Keegan, David J. [4 ]
Kenna, Paul F. [1 ,7 ]
Cremers, Frans P. M. [2 ]
Farrar, G. Jane [1 ]
机构
[1] Univ Dublin Trinity Coll, Genet, Dublin, Ireland
[2] Radboud Univ Nijmegen, Nijmegen, Gelderland, Netherlands
[3] Univ Medisch Ctr Groningen, Dept Pathol & Med Biol, Groningen, Netherlands
[4] Mater Misericordiae Univ Hosp, Clin Genet Ctr Ophthalmol, Dublin, Ireland
[5] Belfast Hlth & Social Care Trust, Belfast, Antrim, North Ireland
[6] Univ Lille, Lille, Hauts De France, France
[7] Royal Coll Surgeons Ireland, Dept Ophthalmol, Dublin, Ireland
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:3
相关论文
共 50 条
  • [1] PRPH2-Associated Retinopathy Novel Variants and Genotype-Phenotype Correlations
    Bianco, Lorenzo
    Arrigo, Alessandro
    Antropoli, Alessio
    Saladino, Andrea
    Spiga, Ivana
    Patricelli, Maria Grazia
    Bandello, Francesco
    Carrera, Paola
    Parodi, Maurizio Battaglia
    OPHTHALMOLOGY RETINA, 2023, 7 (05): : 450 - 461
  • [2] Retinal dystrophies and variants in PRPH2
    da Palma, Mariana Matioli
    Martin, Daniel
    Salles, Mariana Vallim
    Teixeira Motta, Fabiana Louise
    Abujamra, Suel
    Ferraz Sallum, Juliana Maria
    ARQUIVOS BRASILEIROS DE OFTALMOLOGIA, 2019, 82 (02) : 158 - 160
  • [3] Genotype-phenotype correlation in PRPH2-associated retinopathy
    Jeffery, Rachael C. Heath
    Vincent, Andrea L.
    Thompson, Jennifer
    McLaren, Terri
    Lamey, Tina
    Roshandel, Danial
    Ayton, Lauren
    Chen, Fred K.
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2023, 51 (09): : 927 - 928
  • [4] Genotype-Phenotype Correlation in Patients with PRPH2-Mutations
    Maertz, J.
    Gloeckle, N.
    Nentwich, M. M.
    Rudolph, G.
    KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 2015, 232 (03) : 266 - 274
  • [5] Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype
    Napolitano, Filomena
    Dell'Aquila, Milena
    Terracciano, Chiara
    Franzese, Giuseppina
    Gentile, Maria Teresa
    Piluso, Giulio
    Santoro, Claudia
    Colavito, Davide
    Patane, Anna
    De Blasiis, Paolo
    Sampaolo, Simone
    Paladino, Simona
    Melone, Mariarosa Anna Beatrice
    GENES, 2022, 13 (07)
  • [6] Pathogenic variants in CASK: Expanding the genotype-phenotype correlations
    Dubbs, Holly
    Ortiz-Gonzalez, Xilma
    Marsh, Eric D.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (09) : 2617 - 2626
  • [7] The spectrum of phenotype and genotype observed in PRPH2 associated retinal degeneration.
    Biswas, Pooja
    Lazaro, Danielle
    Emily, K.
    Berry, Anne
    Woodard, DaNae
    Ayyagari, Radha
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [8] Genotype-phenotype correlations in individuals with pathogenic RERE variants
    Jordan, Valerie K.
    Fregeau, Brieana
    Ge, Xiaoyan
    Giordano, Jessica
    Wapner, Ronald J.
    Balci, Tugce B.
    Carter, Melissa T.
    Bernat, John A.
    Moccia, Amanda N.
    Srivastava, Anshika
    Martin, Donna M.
    Bielas, Stephanie L.
    Pappas, John
    Svoboda, Melissa D.
    Rio, Marlene
    Boddaert, Nathalie
    Cantagrel, Vincent
    Lewis, Andrea M.
    Scaglia, Fernando
    Kohler, Jennefer N.
    Bernstein, Jonathan A.
    Dries, Annika M.
    Rosenfeld, Jill A.
    DeFilippo, Colette
    Thorson, Willa
    Yang, Yaping
    Sherr, Elliott H.
    Bi, Weimin
    Scott, Daryl A.
    HUMAN MUTATION, 2018, 39 (05) : 666 - 675
  • [9] Inherited Retinal Disease due to PRPH2 gene pathogenic variants
    da Palma, Mariana Matioli
    Motta, Fabiana Louise
    Salles, Mariana V.
    Sallum, Juliana M. F.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [10] Genotype-phenotype correlations
    Bauce, Barbara
    Nava, Andrea
    ARRHYTHMOGENIC RV CARDIOMYOPATHY/ DYSPLASIA: RECENT ADVANCES, 2007, : 21 - +