DIAMOND-BLACKFAN ANEMIA: GENETIC HOMOGENEITY FOR A GENE ON CHROMOSOME 19q13 RESTRICTED TO 1.8 Mb 28

被引：0
|
作者：
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
机构：
[1] Niklas Dahl,Department of Clinical Genetics
[2] Uppsala University Children's Hospital,undefined
来源：
Pediatric Research | 1997年 / 41卷 / 5期
关键词：
D O I：
10.1203/00006450-199705000-00047
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：741 / 741
相关论文
共 50 条
  • [1] 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
  • [2] 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
  • [3] 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
  • [4] IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIA (DBA) LOCUS ON 19Q13 AND EVIDENCE FOR GENETIC HETEROGENEITY
    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
    Pediatric Research, 1999, 45 : 941 - 941
  • [5] 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
  • [6] 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
  • [7] Genetics of Diamond-Blackfan anemia: Analysis of the chromosome 19q13.2 region in familial and sporadic cases.
    Gustavsson, P
    Garelli, E
    Draptchinskaia, N
    Ball, S
    Willig, TN
    Ramenghi, U
    Dianzani, I
    Goringe, A
    Olivieri, NF
    Smibert, E
    Tchernia, G
    Elinder, G
    Skeppner, G
    Dahl, N
    BLOOD, 1997, 90 (10) : 1954 - 1954
  • [8] Fiber-FISH analysis of a microdeletion in 19q13 associated with Diamond-Blackfan anaemia, mental retardation and skeletal abnormalities.
    Gustavsson, P
    Tentler, D
    Elinder, G
    Eklöf, O
    Gordon, L
    Mandel, A
    Dahl, N
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A235 - A235
  • [9] 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
  • [10] Diamond-Blackfan anemia since the ribosomal protein S19 (rps19) gene
    Da Costa, Lydie
    Cretien, Aurore
    Marie, Isabelle
    Tchernia, Gil
    Leblanc, Thierry
    HEMATOLOGIE, 2005, 11 (06): : 385 - 396
12345