Detalhe da pesquisa
1.
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Hum Mol Genet
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676400
2.
Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study.
Mol Psychiatry
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605171
3.
Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.
Hum Brain Mapp
; 45(1): e26553, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38224541
4.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 230(3): 368.e1-368.e12, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717890
5.
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
6.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet
; 106(1): 26-40, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31870554
7.
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Genet Med
; 25(3): 100344, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729052
8.
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Genet Med
; 25(3): 100338, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729053
9.
A Novel Gemcitabine-Resistant Gallbladder Cancer Model Provides Insights into Molecular Changes Occurring during Acquired Resistance.
Int J Mol Sci
; 24(8)2023 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37108401
10.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Hum Mutat
; 42(6): 762-776, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847017
11.
Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020.
Hum Genomics
; 14(1): 27, 2020 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641116
12.
Using Online Mendelian Inheritance in Man in low- and middle-income countries.
Am J Med Genet A
; 185(11): 3284-3286, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34492150
13.
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.
J Neurosci
; 39(18): 3561-3581, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30833507
14.
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Hum Mol Genet
; 27(7): 1150-1163, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29361080
15.
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease.
Brain
; 140(5): 1371-1383, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369257
16.
Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison With the Breath Test.
J Pediatr Gastroenterol Nutr
; 63(1): e10-3, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27035380
17.
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Genet Med
; 17(8): 599-609, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25569435
18.
Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.
Front Genet
; 15: 1278198, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38566815
19.
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
20.
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
J Med Genet
; 49(4): 234-41, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22499341