IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIA (DBA) LOCUS ON 19Q13 AND EVIDENCE FOR GENETIC HETEROGENEITY

被引:0
|
作者
P Gustavsson
E Garelli
N Draptchinskaia
S Ball
T N Willing
D Tentler
I Dianzani
H H Punnett
F E Shafer
H Cario
U Ramenghi
A Glomstein
R A Pfeiffer
A Goringe
N F Olivieri
E Smibert
G Tchernia
G Elinder
N Dahl
机构
[1] Uppsala Univ Child Hosp,
[2] Univ of Torino,undefined
[3] St. George's Hosp Med School,undefined
[4] Univ of California,undefined
[5] Berkeley,undefined
[6] Hôpital Bicêtre,undefined
[7] St. Christopher's Hosp for Children,undefined
[8] Ulm Univ,undefined
[9] slo Univ,undefined
[10] Univ of Erlangen,undefined
[11] The Hosp for Sick Children,undefined
[12] Royal Children's Hosp,undefined
[13] Sacchska Hosp,undefined
来源
Pediatric Research | 1999年 / 45卷
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:941 / 941
相关论文
共 43 条
  • [1] Identification of microdeletions spanning the Diamond-Blackfan anemia (DBA) locus on 19Q13 and evidence for genetic heterogeneity
    Gustavsson, P
    Garelli, E
    Draptchinskaia, N
    Ball, S
    Willing, TN
    Tentler, D
    Dianzani, I
    Punnett, HH
    Shafer, FE
    Cario, H
    Ramenghi, U
    Glomstein, A
    Pfeiffer, RA
    Goringe, A
    Olivieri, NF
    Smibert, E
    Tchernia, G
    Elinder, G
    Dahl, N
    PEDIATRIC RESEARCH, 1999, 45 (06) : 941 - 941
  • [2] Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity
    Gustavsson, P
    Garelli, E
    Draptchinskaia, N
    Ball, S
    Willig, TN
    Tentler, D
    Dianzani, I
    Punnett, HH
    Shafer, FE
    Cario, H
    Ramenghi, U
    Glomstein, A
    Pfeiffer, RA
    Goringe, A
    Olivieri, NF
    Smibert, E
    Tchernia, G
    Elinder, G
    Dahl, N
    AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (05) : 1388 - 1395
  • [3] DIAMOND-BLACKFAN ANEMIA: GENETIC HOMOGENEITY FOR A GENE ON CHROMOSOME 19q13 RESTRICTED TO 1.8 Mb 28
    Peter Gustavsson
    Thiébaut-Noel Willig
    Arie Van Haeringen
    Gil Tchernia
    Irma Dianzani
    Mikael Donnér
    Göran Elinder
    Jan-Inge Henter
    Per-Gunnar Nilsson
    Laurie Gordon
    Liesbeth van't Veer-Korthof
    Gunnar Skeppner
    Anders Kreuger
    Niklas Dahl
    Pediatric Research, 1997, 41 (5) : 741 - 741
  • [4] Somatic mosaicism and variable expressivity in Diamond Blackfan anemia (DBA): A large deletion involving the 19q13 locus in a patient with transient anemia
    Garelli, E
    Quarello, P
    Campagnoli, M
    Brusco, A
    Carando, A
    Menegatti, E
    Crescenzio, N
    Foglia, L
    Dianzani, I
    Ramenghi, U
    BLOOD, 2005, 106 (11) : 991A - 991A
  • [5] Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb
    Peter Gustavsson
    Thiébaut-Noel Willig
    Arie van Haeringen
    Gil Tchernia
    Irma Dianzani
    Mikael Donnér
    Göran Elinder
    Jan-Inge Renter
    Per-Gunnar Nilsson
    Laurie Gordon
    Gunnar Skeppner
    Lisbeth van't Veer-Korthof
    Anders Kreuger
    Niklas Dahl
    Nature Genetics, 1997, 16 : 368 - 371
  • [6] Diamond-Blackfan anaemia: Genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb
    Gustavsson, P
    Willig, TN
    vanHaeringen, A
    Tchernia, G
    Dianzani, I
    Donner, M
    Elinder, G
    Henter, JI
    Nilsson, PG
    Gordon, L
    Skeppner, G
    vantVeerKorthof, L
    Kreuger, A
    Dahl, N
    NATURE GENETICS, 1997, 16 (04) : 368 - 371
  • [7] Diamond-Blackfan Anemia (DBA): Identification of nonpenetrant individuals in the molecular era
    Alter, BP
    Leathwood, L
    Peters, J
    Carr, A
    Singer, D
    Aleck, K
    Wagner, L
    Greene, MH
    BLOOD, 2003, 102 (11) : 507A - 507A
  • [8] High adenosine deaminase level among healthy probands of Diamond Blackfan Anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13
    Willig, TN
    Pérignon, JL
    Gustavsson, P
    Gane, P
    Draptchinskaya, N
    Testard, H
    Girot, R
    Debré, M
    Stéphan, JL
    Chenel, C
    Cartron, JP
    Dahl, N
    Tchernia, G
    BLOOD, 1998, 92 (11) : 4422 - 4427
  • [9] Congenital malformations in Diamond Blackfan Anemia: Cosegregation with the DBA locus on 19q13.2.
    Ramenghi, U
    Garelli, E
    Valtolina, S
    Varotto, S
    Mair, M
    Franceschini, P
    Gustavsson, P
    Dianzani, I
    Dahl, N
    BLOOD, 1997, 90 (10) : 1955 - 1955
  • [10] Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19
    Barrio, Alvaro Martinez
    Eriksson, Oskar
    Badhai, Jitendra
    Frojmark, Anne-Sophie
    Bongcam-Rudloff, Erik
    Dahl, Niklas
    Schuster, Jens
    PLOS ONE, 2009, 4 (07):