Detalhe da pesquisa
1.
Frequent copy number variants in a cohort of Mexican-Mestizo individuals.
Mol Cytogenet
; 16(1): 2, 2023 Jan 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36631885
2.
Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.
Front Genet
; 14: 1293929, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38327701
3.
Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.
Gene
; 706: 62-68, 2019 Jul 20.
Artigo
Inglês
| MEDLINE | ID: mdl-31048069
4.
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
Cornea
; 37(9): 1178-1181, 2018 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29878917
5.
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.
Mol Cytogenet
; 10: 42, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29177010
6.
Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.
Mol Cytogenet
; 7(1): 65, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25276227
7.
Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.
Hum Genet
; 111(3): 278-83, 2002 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-12215841
8.
Li-fraumeni syndrome in pediatric patients with soft tissue sarcoma or osteosarcoma
Arch. med. res
; 28(3): 383-6, sept. 1997. tab, ilus
Artigo
Inglês
| LILACS | ID: lil-225243