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- 2020
- Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity : A multi-center study
- 2012
- Homozygous deletions of CDKN2A are present in all dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation
- 2010
- 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
- 2008
-
Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding
Kuchinskaya, Ekaterina ; Heyman, Mats ; Nordgren, Ann ; Schoumans, Jacqueline ; Staaf, Johan LU
; Borg, Åke
LU
; Söderhäll, Stefan
; Grander, Dan
; Nordenskjöld, Magnus
and Blennow, Elisabeth
(2008)
In British Journal of Haematology
140(5).
p.572-577
Mark
-
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms
Zhang, Zhong-Fa ; Ruivenkamp, Claudia ; Staaf, Johan LU
; Zhu, Hongbo
; Barbaro, Michela
; Petillo, David
; Khoo, Sok Kean
; Borg, Åke
LU
; Fan, Yao-Shan
and Schoumans, Jacqueline
(2008)
In European Journal of Human Genetics
16(7).
p.786-792
Mark
- Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-Cell precursor acute lymphoblastic leukemias: A nordic series of 24 cases and review of the literature
- 2007
-
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
Gustavsson, Peter ; Schoumans, Jacqueline ; Staaf, Johan LU
; Borg, Åke
LU
; Nordenskjold, Magnus
and Anneren, Goran
(2007)
In European Journal of Medical Genetics
50(3).
p.237-241
Mark
-
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
Barbaro, Michela ; Oscarson, Mikael ; Schoumans, Jacqueline ; Staaf, Johan LU
; Ivarsson, Sten
LU
and Wedell, Anna
(2007)
In Journal of Clinical Endocrinology and Metabolism
92(8).
p.3305-3313
Mark
-
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Schoumans, Jacqueline ; Wincent, Josephine ; Barbaro, Michela ; Djureinovic, Tatjana ; Maguire, Paula ; Forsberg, Lena ; Staaf, Johan LU
; Thuresson, Ann Charlotte
; Borg, Åke
LU
and Nordgren, Ann
, et al.
(2007)
In European Journal of Human Genetics
15(2).
p.143-149
Mark
- 2006
-
Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2
Schoumans, Jacqueline ; Johansson, Bertil LU ; Corcoran, Martin ; Kuchinskaya, Ekaterina ; Golovleva, Irina ; Grander, Dan ; Forestier, Erik ; Staaf, Johan LU
; Borg, Åke
LU
and Gustafsson, Britt
, et al.
(2006)
In British Journal of Haematology
135(4).
p.492-499
Mark
- 2001
- Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity