Deletion Upstream of SALL1 Producing Townes-Brocks Syndrome

被引：4
|
作者：
Stevens, Cathy A. [1 ]
May, Kristin M. [1 ]
机构：
[1] Univ Tennessee, Dept Pediat, Coll Med, 910 Blackford St, Chattanooga, TN 37403 USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2016年 / 170卷 / 09期
关键词：
D O I：
10.1002/ajmg.a.37786
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：2476 / 2478
页数：3
相关论文
共 50 条
  • [1] SALL1 mutations in Townes-Brocks syndrome and related disorders
    Kohlhase, J
    [J]. HUMAN MUTATION, 2000, 16 (06) : 460 - 466
  • [2] Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
    Kohlhase, J
    Taschner, PEM
    Burfeind, P
    Pasche, B
    Newman, B
    Blanck, C
    Breuning, MH
    ten Kate, LP
    Maaswinkel-Mooy, P
    Mitulla, B
    Seidel, J
    Kirkpatrick, SJ
    Pauli, RM
    Wargowski, DS
    Devriendt, K
    Proesmans, W
    Gabrielli, O
    Coppa, GV
    Wesby-van Swaay, E
    Trembath, RC
    Schinzel, AA
    Reardon, W
    Seemanova, E
    Engel, W
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) : 435 - 445
  • [3] Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome
    Bozal-Basterra, Laura
    Martin-Ruiz, Itziar
    Pirone, Lucia
    Liang, Yinwen
    Sigurdsson, Jon Otti
    Gonzalez-Santamarta, Maria
    Giordano, Immacolata
    Gabicagogeascoa, Estibaliz
    de Luca, Angela
    Rodriguez, Jose A.
    Wilkie, Andrew O. M.
    Kohlhase, Juergen
    Eastwood, Deborah
    Yale, Christopher
    Olsen, Jesper V.
    Rauchman, Michael
    Anderson, Kathryn V.
    Sutherland, James D.
    Barrio, Rosa
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 102 (02) : 249 - 265
  • [4] Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene
    A. Salerno
    J. Kohlhase
    B. S. Kaplan
    [J]. Pediatric Nephrology, 2000, 14 : 25 - 28
  • [5] Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects
    Surka, WS
    Kohlhase, J
    Neunert, CE
    Schneider, DS
    Proud, VK
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 102 (03): : 250 - 257
  • [6] Townes-Brocks syndrome and renal dysplasia:: a novel mutation in the SALL1 gene
    Salerno, A
    Kohlhase, J
    Kaplan, BS
    [J]. PEDIATRIC NEPHROLOGY, 2000, 14 (01) : 25 - 28
  • [7] Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
    Kohlhase, J
    Pasche, B
    Burfeind, P
    Wischermann, A
    Reichenbach, H
    Froster, U
    Engel, W
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 33 - 33
  • [8] Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
    Jürgen Kohlhase
    Annegret Wischermann
    Herbert Reichenbach
    Ursula Froster
    Wolfgang Engel
    [J]. Nature Genetics, 1998, 18 : 81 - 83
  • [9] Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome
    Blanck, C
    Kohlhase, J
    Engels, P
    Burfeind, P
    Engel, W
    Bottani, A
    Patel, MS
    Kroes, HY
    Cobben, JM
    [J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (04) : 303 - 307
  • [10] Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes-Brocks syndrome
    Buck, A
    Kispert, A
    Kohlhase, J
    [J]. MECHANISMS OF DEVELOPMENT, 2001, 104 (1-2) : 143 - 146
12345