Detalhe da pesquisa
1.
PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
Breast Cancer Res Treat
; 194(2): 403-412, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35610400
2.
A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.
Am J Med Genet A
; 167A(8): 1865-71, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25988649
3.
Dysphagia, melanosis, gastrointestinal stromal tumors and a germinal mutation of the KIT gene in an Argentine family.
Acta Gastroenterol Latinoam
; 44(1): 9-15, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24847623
4.
First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets. / Primer reporte en Argentina de variante patógena en DMP1 asociada a raquitismo hipofosfatémico autosómico recesivo.
Arch Argent Pediatr
; 121(2): e202202682, 2023 04 01.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-36315908
5.
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
NPJ Genom Med
; 8(1): 8, 2023 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217489
6.
iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation.
Mol Ther Methods Clin Dev
; 17: 858-870, 2020 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32373648
7.
Interstitial deletion of 2q24.2: further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction.
Am J Med Genet A
; 164A(3): 824-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357343
8.
Seasonality of Rotavirus Hospitalizations at Costa Rica's National Children's Hospital in 2010-2015.
Int J Environ Res Public Health
; 16(13)2019 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31262051
9.
Primer reporte en Argentina de variante patógena en DMP1 asociada a raquitismo hipofosfatémico autosómico recesivo / First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets
Arch. argent. pediatr
; 121(2): e202202682, abr. 2023. ilus
Artigo
em Inglês, Espanhol
| LILACS, BINACIS | ID: biblio-1424963
10.
Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.
Mol Cytogenet
; 11: 30, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760780
11.
Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Genes (Basel)
; 9(9)2018 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30208644
12.
[Double aneuploidy: Klinefelter and Edwards syndromes (48,XXY,+18). Case report]. / Doble aneuploidía: síndromes de Klinefelter y Edwards (48,XXY,+18). Reporte de caso.
Arch Argent Pediatr
; 115(5): e282-e286, 2017 Oct 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-28895703
13.
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
em Inglês
| MEDLINE | ID: mdl-29177010
14.
Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.
Oncotarget
; 8(36): 60487-60495, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28947987
15.
Identification and characterization of four splicing variants of ovine POU1F1 gene.
Gene
; 382: 12-9, 2006 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16942842
16.
Cyclic RGD ß-lactam peptidomimetics induce differential gene expression in human endothelial cells.
Chembiochem
; 12(3): 401-5, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21290542
17.
A combined approach for gene discovery identifies insulin-like growth factor-binding protein-related protein 1 as a new gene implicated in human endometrial receptivity.
J Clin Endocrinol Metab
; 88(4): 1849-57, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12679483
18.
Human endometrial receptivity: gene regulation.
J Reprod Immunol
; 55(1-2): 131-9, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12062828
19.
Acercamiento a la vida y obra del Doctor Jorge Ángel Pérez Toscano / An approach to the life and work of Doctor Jorge Ángel Pérez Toscano
Rev. medica electron
; 41(5): 1310-1315, sept.-oct. 2019.
Artigo
em Espanhol
| LILACS, CUMED | ID: biblio-1103015
20.
Doble aneuploidía: síndromes de Klinefelter y Edwards (48, XXY, +18). Reporte de caso / Double aneuploidy: Klinefelter and Edwards syndromes (48, XXY, +18). Case report
Arch. argent. pediatr
; 115(5): 282-286, oct. 2017. ilus
Artigo
em Espanhol
| LILACS, BINACIS | ID: biblio-887377