Detalhe da pesquisa
1.
Editing the Human Genome with CRISPR/Cas: A Review of its Molecular Basis, Current Clinical Applications, and Bioethical Implications.
Rev Invest Clin
; 75(1): 13-28, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36854069
2.
Proposed clinical approach and imaging studies in families with oculo-auriculo-vertebral spectrum to assess variable expressivity.
Am J Med Genet A
; 188(5): 1515-1525, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35119197
3.
Cleft Lip Palate in a Patient with 5q14.3 Deletion Syndrome: A Possible Unreported Feature?
Cytogenet Genome Res
; 161(12): 556-563, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-35021179
4.
Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria.
Cytogenet Genome Res
; 160(4): 177-184, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32369810
5.
[Current indications for invasive prenatal diagnosis. New proposals based on the experience of Institute Nacional de Perinatología]. / Indicaciones actuales para el diagnóstico prenatal invasivo. Nuevas propuestas basadas en la experiencia del Instituto Nacional de Perinatología.
Ginecol Obstet Mex
; 81(8): 454-60, 2013 Aug.
Artigo
Espanhol
| MEDLINE | ID: mdl-24049975
6.
In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.
Children (Basel)
; 10(12)2023 Nov 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38136067
7.
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
8.
The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.
Life (Basel)
; 12(11)2022 Oct 28.
Artigo
Inglês
| MEDLINE | ID: mdl-36362878
9.
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
Diagnostics (Basel)
; 12(5)2022 May 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35626423
10.
Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR.
Children (Basel)
; 8(6)2021 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34070861
11.
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Genes (Basel)
; 12(11)2021 10 23.
Artigo
Inglês
| MEDLINE | ID: mdl-34828281
12.
Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.
Mol Cytogenet
; 12: 35, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31388356
13.
Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population.
J Pediatr Genet
; 8(2): 41-46, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-31061744
14.
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
15.
Editing the Human Genome with CRISPR/Cas: A Review of its Molecular Basis, Current Clinical Applications, and Bioethical Implications
Rev. invest. clín
; 75(1): 13-28, Jan.-Feb. 2023. graf
Artigo
Inglês
|
LILACS-Express
| ID: biblio-1450099
16.
Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.
Brain Dev
; 40(7): 530-536, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29685341
17.
MLPA (amplificación de sondas dependiente de ligandos múltiples) en el diagnóstico perinatal rápido de las principales aneuploidías / MLPA (multiplex ligation-dependent probe amplification) in perinatal rapid diagnosis of major aneuploidies
Perinatol. reprod. hum
; 26(3): 172-179, jul.-sept. 2012. ilus, tab
Artigo
Espanhol
| LILACS | ID: lil-695088