A third locus for dominant optic atrophy on chromosome 22q

被引:56
|
作者
Barbet, F
Hakiki, S
Orssaud, C
Gerber, S
Perrault, I
Hanein, S
Ducroq, D
Dufier, JL
Munnich, A
Kaplan, J
Rozet, JM
机构
[1] Hop Necker Enfants Malad, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France
[2] Hop Necker Enfants Malad, Serv Ophtalmol, Paris, France
关键词
D O I
10.1136/jmg.2004.025502
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页数:4
相关论文
共 50 条
  • [1] A third locus for dominant optic atrophy on chromosome 22q
    Rozet, J
    Barbet, F
    Dufier, JLL
    Munnich, A
    Kaplan, J
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46
  • [2] Linkage of a composite inhibitory phenotype to a chromosome 22q locus in eight Utah families
    Myles-Worsley, M
    Coon, H
    McDowell, J
    Brenner, C
    Hoff, M
    Lind, P
    Bennett, P
    Freedman, R
    Clementz, B
    Byerley, W
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 88 (05): : 544 - 550
  • [3] Genetic losses on chromosome 22q in Gists
    Lasota, J
    Wozniak, A
    Kopczynski, J
    Wasag, B
    Sarlomo-Rikala, M
    Lee, JR
    Stachura, J
    Miettinen, M
    LABORATORY INVESTIGATION, 2003, 83 (01) : 16A - 16A
  • [4] Genetic losses on chromosome 22q in GISTs
    Lasota, J
    Wozniak, A
    Kopczynski, J
    Wasag, B
    Sarlomo-Rikala, M
    Lee, JR
    Stachura, J
    Miettinen, M
    MODERN PATHOLOGY, 2003, 16 (01) : 16A - 16A
  • [5] A novel insulinoma tumor suppressor gene locus on chromosome 22q with potential prognostic implications
    Wild, A
    Langer, P
    Ramaswamy, A
    Chaloupka, B
    Bartsch, DK
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (12): : 5782 - 5787
  • [6] Osteoid osteomas with chromosome alterations involving 22q
    Baruffi, MR
    Volpon, JB
    Neto, JB
    Casartelli, C
    CANCER GENETICS AND CYTOGENETICS, 2001, 124 (02) : 127 - 131
  • [7] Genetic heterogeneity of dominant optic atrophy, Kjer type -: Identification of a second locus on chromosome 18q12.2-12.3
    Kerrison, JB
    Arnould, VJ
    Sallum, JMF
    Vagefi, MR
    Barmada, MM
    Li, YY
    Zhu, DP
    Maumenee, IH
    ARCHIVES OF OPHTHALMOLOGY, 1999, 117 (06) : 805 - 810
  • [8] Schizophrenia in a patient with subtelomeric duplication of chromosome 22q
    Failla, P.
    Romano, C.
    Alberti, A.
    Vasta, A.
    Buono, S.
    Castiglia, L.
    Luciano, D.
    Di Benedetto, D.
    Fichera, M.
    Galesi, O.
    CLINICAL GENETICS, 2007, 71 (06) : 599 - 601
  • [9] Allelic loss on chromosome 22Q in epithelioid sarcomas
    Quezado, MM
    Middleton, LP
    Bryant, B
    Lane, K
    Weiss, SW
    Merino, MJ
    HUMAN PATHOLOGY, 1998, 29 (06) : 604 - 608
  • [10] A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22
    Barbet, F
    Gerber, S
    Hakiki, S
    Perrault, I
    Hanein, S
    Ducroq, D
    Tanguy, G
    Dufier, JL
    Munnich, A
    Kaplan, J
    Rozet, JM
    RETINAL DEGENERATIVE DISEASES, 2006, 572 : 21 - 27