Detalhe da pesquisa
1.
Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.
Ophthalmic Genet
; 39(1): 56-62, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28922055
2.
19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype.
Mol Cytogenet
; 7(1): 61, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25516771
3.
Detection of common chromosomal translocations in small round blue cell pediatric tumors.
Arch Med Res
; 45(2): 143-51, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24486246
4.
Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.
BMC Med Genomics
; 7: 55, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25223409
5.
Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.
Biomed Res Int
; 2013: 209204, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23484094
6.
Amplified genes may be overexpressed, unchanged, or downregulated in cervical cancer cell lines.
PLoS One
; 7(3): e32667, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22412903
7.
Detection of fusion genes in formalin-fixed paraffin-embedded tissue sections of rhabdomyosarcoma by RT-PCR and fluorescence in situ hybridization in Mexican patients.
Arch Med Res
; 41(2): 119-24, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20470941
8.
Emanuel syndrome (supernumerary derivative 22), the result of a maternal translocation. A case report.
J Assoc Genet Technol
; 36(4): 189-93, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21149990