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- 2008
- DAX1 locus duplications as a cause of isolated partial or complete 46,XY gonadal dysgenesis
-
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
-
Array-CGH identifies cyclin D1 and UBCH10 amplicons in anaplastic thyroid carcinoma.
Lee, Jia-Jing ; Au, Amy Y M ; Foukakis, Theodoros ; Barbaro, Michela ; Kiss, Nimrod ; Clifton-Bligh, Roderick ; Staaf, Johan LU
;
Borg, Åke
LU
;
Delbridge, Leigh
and
Robinson, Bruce G
, et al.
(2008)
In Endocrine-Related Cancer
15(3).
p.801-815
Mark
- 2007
-
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