Congenital malformations in Diamond Blackfan Anemia: Cosegregation with the DBA locus on 19q13.2.

被引：0
|
作者：
Ramenghi, U
Garelli, E
Valtolina, S
Varotto, S
Mair, M
Franceschini, P
Gustavsson, P
Dianzani, I
Dahl, N
机构：
[1] OSPED DI BRUNICO,BOLZANO,ITALY
[2] UNIV PADUA,DEPT PEDIAT,I-35100 PADUA,ITALY
[3] UNIV TURIN,DEPT PEDIAT & GENET,I-10124 TURIN,ITALY
[4] UPPSALA UNIV,CHILDRENS HOSP,DEPT CLIN GENET,UPPSALA,SWEDEN
来源：
BLOOD | 1997年 / 90卷 / 10期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1955 / 1955
页数：1
相关论文
共 50 条
  • [1] 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
  • [2] 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
  • [3] NEOPLASIA IN DIAMOND BLACKFAN ANEMIA (DBA) AS REPORTED TO THE DIAMOND BLACKFAN ANEMIA REGISTRY (DBAR)
    Vlachos, Adrianna
    Atsidaftos, Eva
    Muir, Ellen
    Gazda, Hanna
    Sheen, Mee Rie
    Beggs, Alan
    Lipton, Jeffrey
    PEDIATRIC BLOOD & CANCER, 2010, 54 (06) : 833 - 833
  • [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] 5Q-MYELODYSPLASTIC SYNDROME (MDS) MASQUERADING AS DIAMOND BLACKFAN ANEMIA (DBA)
    Vlachos, Adrianna
    Farrar, Jason
    Atsidaftos, Evangelia
    Muir, Ellen
    Markello, Thomas C.
    Singh, Sharon
    Liu, Johnson M.
    Ellis, Steven R.
    Arceci, Robert J.
    Bodine, David
    Lipton, Jeffrey
    PEDIATRIC BLOOD & CANCER, 2012, 58 (07) : 1073 - 1074
  • [6] THE SIGNIFICANT INCIDENCE OF NEOPLASIA IN DIAMOND BLACKFAN ANEMIA (DBA): A REPORT FROM THE DIAMOND BLACKFAN ANEMIA REGISTRY (DBAR)
    Vlachos, Adrianna
    Rosenberg, Philip
    Atsidaftos, Eva
    Alter, Blanche
    Lipton, Jeffrey
    PEDIATRIC BLOOD & CANCER, 2011, 56 (06) : 901 - 901
  • [7] Diamond Blackfan Anemia (DBA) and associated Orofacial clefts (OFC): A Diamond Blackfan Anemia Registry (DBAR) analysis
    Vlachos, A
    Klein, GW
    Avarello, JT
    Rivera, RD
    Atsidaftos, E
    Gripp, KW
    McKenzie, S
    Lipton, JM
    PEDIATRIC RESEARCH, 2002, 51 (04) : 245A - 245A
  • [8] 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
  • [9] A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies
    Yuan, Haiming
    Meng, Zhe
    Liu, Liping
    Deng, Xiaoyan
    Hu, Xizi
    Liang, Liyang
    MOLECULAR CYTOGENETICS, 2016, 9
  • [10] A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies
    Haiming Yuan
    Zhe Meng
    Liping Liu
    Xiaoyan Deng
    Xizi Hu
    Liyang Liang
    Molecular Cytogenetics, 9
12345