A novel locus for keratoconus on 5q14.3-q21.1

被引：0
|
作者：
Rabinowitz, YS
Tang, Y
Picornell, Y
Taylor, K
Yang, H
机构：
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2005年 / 46卷
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：
4955
引用
收藏
页数：1
相关论文
共 50 条
  • [41] A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3
    Norgren, Nina
    Mattson, Emma
    Forsgren, Lars
    Holmberg, Monica
    NEUROGENETICS, 2011, 12 (02) : 137 - 143
  • [42] An Intellectually Disabled Patient With the 5q14.3q15 Microdeletion Syndrome Associated With an Apparently De Novo t(2;5)(q13;q14)
    Toral-Lopez, Jaime
    Buentello-Volante, Beatriz
    Balderas-Minor, Marta M.
    Amezcua-Herrera, Carmen
    Valdes-Miranda, Juan M.
    Ma Gonzalez-Huerta, Luz
    Gudino, Marco
    Cuevas-Covarrubias, Sergio A.
    Carlos Zenteno, Juan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) : 942 - 946
  • [43] A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review
    Almuzzaini, Bader
    Alatwi, Nasser S.
    Alsaif, Saif
    Al Balwi, Mohammed A.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (04):
  • [44] Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 region
    Buchner, G
    Bassi, MT
    Andolfi, G
    Ballabio, A
    Franco, B
    GENOMICS, 1999, 62 (01) : 113 - 118
  • [45] A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
    Sylvain Hanein
    Alexandra Dürr
    Pascale Ribai
    Sylvie Forlani
    Anne-Louise Leutenegger
    Isabelle Nelson
    Marie-Claude Babron
    Nizar Elleuch
    Christel Depienne
    Céline Charon
    Alexis Brice
    Giovanni Stevanin
    Human Genetics, 2007, 122 : 261 - 273
  • [46] Identification and characterisation of a novel cDNA transcript from 13q14.3.
    Rowntree, C
    Duke, V
    Panayiotidis, P
    Kotsi, P
    Palmisano, G
    Prentice, HG
    Hoffbrand, AV
    Foroni, L
    BLOOD, 1999, 94 (10) : 185B - 185B
  • [47] A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)
    Da Silva, Jorge Diogo
    Oliva-Teles, Natalia
    Tkachenko, Nataliya
    Fino, Joana
    Marques, Mariana
    Fortuna, Ana Maria
    David, Dezso
    BIOMEDICINES, 2023, 11 (01)
  • [48] Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2
    den Hollander, AI
    van Lith-Verhoeven, JJC
    Kersten, FFJ
    Heister, JGAM
    de Kovel, CGF
    Deutman, AF
    Hoyng, CB
    Cremers, FPM
    JOURNAL OF MEDICAL GENETICS, 2004, 41 (09) : 699 - 702
  • [49] A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
    Hanein, Sylvain
    Duerr, Alexandra
    Ribai, Pascale
    Forlani, Sylvie
    Leutenegger, Anne-Louise
    Nelson, Isabelle
    Babron, Marie-Claude
    Elleuch, Nizar
    Depienne, Christel
    Charon, Celine
    Brice, Alexis
    Stevanin, Giovanni
    HUMAN GENETICS, 2007, 122 (3-4) : 261 - 273
  • [50] MULTIPOINT MAP OF THE 5Q11-5Q13 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS
    GURLING, HMD
    SHERRINGTON, RP
    BRYNJOLFSSON, J
    PETURSSON, H
    CYTOGENETICS AND CELL GENETICS, 1989, 51 (1-4): : 1009 - 1009
12345