Mutation analysis of EYA1 gene associated with branchio-oto-renal syndrome and refining the BOR2 region on chromosome 1q.

被引:0
|
作者
Kumar, S
Marres, HAM
Cremers, CWRJ
Kimberling, WJ
机构
[1] Boys Town Natl Res Hosp, Dept Genet, Omaha, NE 68131 USA
[2] Univ Nijmegen Hosp, Dept Otolaryngol, NL-6500 HB Nijmegen, Netherlands
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2253
引用
收藏
页码:401 / 401
页数:1
相关论文
共 50 条
  • [1] MUTATION OF THE EYA1 GENE IN A PATIENT WITH BRANCHIO-OTO-RENAL SYNDROME
    Spahiu, Lidvana
    Merovci, Besart
    Jaha, Vlora Ismaili
    Kepuska, Arbnore Batalli
    Jashari, Haki
    PEDIATRIC NEPHROLOGY, 2017, 32 (09) : 1738 - 1738
  • [2] Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome
    Kim, SH
    Shin, JH
    Yeo, CK
    Chang, SH
    Park, SY
    Cho, EH
    Ki, CS
    Kim, JW
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2005, 69 (08) : 1123 - 1128
  • [3] Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene
    Juan Rodríguez-Soriano
    Alfredo Vallo
    José Ramón Bilbao
    Luis Castaño
    Pediatric Nephrology, 2001, 16 : 550 - 553
  • [4] Branchio-oto-renal syndrome:: identification of a novel mutation in the EYA1 gene
    Rodríguez-Soriano, J
    Vallo, A
    Bilbao, JR
    Castaño, L
    PEDIATRIC NEPHROLOGY, 2001, 16 (07) : 550 - 553
  • [5] Branchio-oto-renal syndrome (BOR):: Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR
    Orten, Dana J.
    Fischer, Stephanie M.
    Sorensen, Jessica L.
    Radhakrishna, Uppala
    Cremers, Cor W. R. J.
    Marres, Henri A. M.
    Van Camp, Guy
    Welch, Katherine O.
    Smith, Richard J. H.
    Kimberling, William J.
    HUMAN MUTATION, 2008, 29 (04) : 537 - 544
  • [6] EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome
    Uno, T
    Sawada, M
    Kurotaki, T
    Shinomiya, N
    PEDIATRICS INTERNATIONAL, 2004, 46 (05) : 615 - 617
  • [7] Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation
    Maddalena Gigante
    Marilena d’Altilia
    Eustacchio Montemurno
    Sterpeta Diella
    Francesca Bruno
    Giuseppe S Netti
    Elena Ranieri
    Giovanni Stallone
    Barbara Infante
    Giuseppe Grandaliano
    Loreto Gesualdo
    BMC Nephrology, 14
  • [8] Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family
    Lee, Kyu Yup
    Kim, SungHee
    Kim, Un Kyung
    Ki, Chang-Seok
    Lee, Sang Heun
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2007, 71 (01) : 169 - 174
  • [9] EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family
    Usami, S
    Abe, S
    Shinkawa, H
    Deffenbacher, K
    Kumar, S
    Kimberling, WJ
    JOURNAL OF HUMAN GENETICS, 1999, 44 (04) : 261 - 265
  • [10] Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation
    Gigante, Maddalena
    d'Altilia, Marilena
    Montemurno, Eustacchio
    Diella, Sterpeta
    Bruno, Francesca
    Netti, Giuseppe S.
    Ranieri, Elena
    Stallone, Giovanni
    Infante, Barbara
    Grandaliano, Giuseppe
    Gesualdo, Loreto
    BMC NEPHROLOGY, 2013, 14