Detalhe da pesquisa
1.
A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants.
Pediatr Nephrol
; 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38502226
2.
Discovery of novel genetic syndromes in Latin America: Opportunities and challenges.
Genet Mol Biol
; 47Suppl 1(Suppl 1): e20230318, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466870
3.
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Genet Med
; 25(4): 100003, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549593
4.
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
Am J Med Genet A
; 191(2): 357-369, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349505
5.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
6.
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.
Am J Med Genet C Semin Med Genet
; 187(3): 373-380, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34288399
7.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Am J Hum Genet
; 102(1): 175-187, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276005
8.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674768
9.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 867-877, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949313
10.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med
; 22(5): 980, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203228
11.
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.
J Hum Genet
; 64(2): 161-170, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30459467
12.
[Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities]. / Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas.
Rev Med Chil
; 145(7): 854-861, 2017 Jul.
Artigo
em Espanhol
| MEDLINE | ID: mdl-29182193
13.
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Clin Chem
; 62(2): 343-52, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26715660
14.
FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile.
Genet Res (Camb)
; 98: e11, 2016 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27350105
15.
[Congenital anomalies of poor prognosis. Genetics Consensus Committee]. / Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre las anomalías congénitas de mal pronóstico vital (ACMPV).
Rev Chil Pediatr
; 87(5): 422-431, 2016.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27234469
16.
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Eur J Hum Genet
; 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38177409
17.
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.
Mol Syndromol
; 14(5): 416-427, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37901859
18.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sci Adv
; 9(10): eade1463, 2023 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897941
19.
[Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2]. / Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre priorización de personas con Síndrome de Down y otras condiciones poco frecuentes en la Campaña de Vacunación COVID-19.
Andes Pediatr
; 92(2): 309-315, 2021 Apr.
Artigo
em Espanhol
| MEDLINE | ID: mdl-34106172
20.
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Nat Commun
; 12(1): 833, 2021 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547280