CLASSIFICATION OF COMPLETE AND INCOMPLETE AUTOSOMAL RECESSIVE ACHROMATOPSIA

被引:48
|
作者
POKORNY, J [1 ]
SMITH, VC [1 ]
PINCKERS, AJLG [1 ]
COZIJNSEN, M [1 ]
机构
[1] CATHOLIC UNIV NIJMEGEN,DEPT OPHTHALMOL,NIJMEGEN,NETHERLANDS
关键词
D O I
10.1007/BF02152296
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:121 / 130
页数:10
相关论文
共 50 条
  • [1] AUTOSOMAL RECESSIVE INCOMPLETE ACHROMATOPSIA WITH DEUTAN LUMINOSITY
    SMITH, VC
    POKORNY, J
    NEWELL, FW
    [J]. JOURNAL OF THE OPTICAL SOCIETY OF AMERICA, 1978, 68 (10) : 1392 - 1392
  • [2] AUTOSOMAL RECESSIVE INCOMPLETE ACHROMATOPSIA WITH DEUTAN LUMINOSITY
    SMITH, VC
    POKORNY, J
    NEWELL, FW
    [J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 1979, 87 (03) : 393 - 402
  • [3] AUTOSOMAL RECESSIVE INCOMPLETE ACHROMATOPSIA WITH PROTAN LUMINOSITY FUNCTION
    SMITH, VC
    POKORNY, J
    NEWELL, FW
    [J]. OPHTHALMOLOGICA, 1978, 177 (04) : 197 - 207
  • [4] Complete achromatopsia associated with skeletal anomalies:: A new autosomal recessive syndrome
    García-Ortiz, JE
    García-Cruz, D
    Mendoza-Topete, R
    Quiroz-Mercado, H
    García-Cruz, MO
    Sánchez-Corona, J
    [J]. GENETIC COUNSELING, 2004, 15 (04): : 455 - 461
  • [5] A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
    Kohl, Susanne
    Coppieters, Frauke
    Meire, Francoise
    Schaich, Simone
    Roosing, Susanne
    Brennenstuhl, Christina
    Bolz, Sylvia
    van Genderen, Maria M.
    Riemslag, Frans C. C.
    Lukowski, Robert
    den Hollander, Anneke I.
    Cremers, Frans P. M.
    De Baere, Elfride
    Hoyng, Carel B.
    Wissinger, Bernd
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (03) : 527 - 532
  • [6] Mutation of ATF6 causes autosomal recessive achromatopsia
    Ansar, Muhammad
    Santos-Cortez, Regie Lyn P.
    Saqib, Muhammad Arif Nadeem
    Zulfiqar, Fareeha
    Lee, Kwanghyuk
    Ashraf, Naeem Mahmood
    Ullah, Ehsan
    Wang, Xin
    Sajid, Sundus
    Khan, Falak Sher
    Amin-ud-Din, Muhammad
    Smith, Joshua D.
    Shendure, Jay
    Bamshad, Michael J.
    Nickerson, Deborah A.
    Hameed, Abdul
    Riazuddin, Saima
    Ahmed, Zubair M.
    Ahmad, Wasim
    Leal, Suzanne M.
    [J]. HUMAN GENETICS, 2015, 134 (09) : 941 - 950
  • [7] HETEROZYGOTE DETECTION IN X-LINKED RECESSIVE INCOMPLETE ACHROMATOPSIA
    PAGON, RA
    CHATRIAN, GE
    HAMER, RD
    LINDBERG, KA
    [J]. OPHTHALMIC PAEDIATRICS AND GENETICS, 1988, 9 (01): : 43 - 56
  • [8] Mutation of ATF6 causes autosomal recessive achromatopsia
    Muhammad Ansar
    Regie Lyn P. Santos-Cortez
    Muhammad Arif Nadeem Saqib
    Fareeha Zulfiqar
    Kwanghyuk Lee
    Naeem Mahmood Ashraf
    Ehsan Ullah
    Xin Wang
    Sundus Sajid
    Falak Sher Khan
    Muhammad Amin-ud-Din
    Joshua D. Smith
    Jay Shendure
    Michael J. Bamshad
    Deborah A. Nickerson
    Abdul Hameed
    Saima Riazuddin
    Zubair M. Ahmed
    Wasim Ahmad
    Suzanne M. Leal
    [J]. Human Genetics, 2015, 134 : 941 - 950
  • [9] A locus for autosomal recessive achromatopsia on human chromosome 8q
    Milunsky, A
    Huang, XL
    Milunsky, J
    DeStefano, A
    Baldwin, CT
    [J]. CLINICAL GENETICS, 1999, 56 (01) : 82 - 85
  • [10] Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia
    Thiadens, Alberta A. H. J.
    Slingerland, Niki W. R.
    Roosing, Susanne
    van Schooneveld, Mary J.
    van Lith-Verhoeven, Janneke J. C.
    van Moll-Ramirez, Norka
    van den Born, L. Ingeborgh
    Hoyng, Carel B.
    Cremers, Frans P. M.
    Klaver, Caroline C. W.
    [J]. OPHTHALMOLOGY, 2009, 116 (10) : 1984 - 1989