Detalhe da pesquisa
1.
Extensive molecular mapping of TCRα/δ- and TCRß-involved chromosomal translocations reveals distinct mechanisms of oncogene activation in T-ALL.
Blood
; 120(16): 3298-309, 2012 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22948044
2.
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.
Am J Med Genet A
; 152A(8): 1933-41, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20635369
3.
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.
Am J Med Genet A
; 149A(11): 2493-500, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19842196
4.
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.
Eur J Hum Genet
; 16(8): 1014-8, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18478040
5.
Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: an eight-year follow-up.
Clin Immunol
; 128(2): 164-71, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18515186
6.
Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
Eur J Hum Genet
; 15(4): 446-52, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17290276
7.
Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH.
Eur J Med Genet
; 50(5): 386-91, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17625997
8.
Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique.
Cancer Genet Cytogenet
; 166(1): 1-11, 2006 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16616106
9.
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Eur J Hum Genet
; 21(6): 602-12, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23073310
10.
CD203c /CD117-, an useful phenotype profile for acute basophilic leukaemia diagnosis in cases of undifferentiated blasts.
Leuk Lymphoma
; 48(2): 439-41, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17325915
11.
Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.
Am J Med Genet A
; 140(3): 233-7, 2006 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16411200
12.
T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome.
Br J Haematol
; 117(4): 899-906, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12060129
13.
Identification of an acute basophilic leukaemia carrying a rare e6a2 BCR-ABL transcript.
Acta Haematol
; 116(3): 216-8, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-17016044