Detalhe da pesquisa
1.
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Genet Med
; 25(4): 100003, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36549593
2.
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
Inglês
| MEDLINE | ID: mdl-36349505
3.
[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
Espanhol
| MEDLINE | ID: mdl-29182193
4.
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Clin Chem
; 62(2): 343-52, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26715660
5.
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
Inglês
| MEDLINE | ID: mdl-27350105
6.
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.
Res Dev Disabil
; 131: 104338, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36179574
7.
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16â¯579 Newborns by Using a Novel Genomic Workflow.
JAMA Netw Open
; 5(1): e2141911, 2022 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34982160
8.
[Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital]. / Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt.
Rev Med Chil
; 139(3): 298-305, 2011 Mar.
Artigo
Espanhol
| MEDLINE | ID: mdl-21879160
9.
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.
Sci Rep
; 10(1): 11701, 2020 07 16.
Artigo
Inglês
| MEDLINE | ID: mdl-32678152
10.
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
Mol Autism
; 10: 21, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31073396
11.
Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation.
Mol Syndromol
; 7(5): 287-291, 2016 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-27867344
12.
Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations.
J Appl Genet
; 57(1): 63-9, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26069167
13.
Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas / Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities
Rev. méd. Chile
; 145(7): 854-861, jul. 2017. tab, graf
Artigo
Espanhol
| LILACS | ID: biblio-902558
14.
Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation.
Am J Med Genet
; 113(3): 307-8, 2002 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-12439903
15.
Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt / Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital
Rev. méd. Chile
; 139(3): 298-305, mar. 2011. ilus
Artigo
Espanhol
| LILACS | ID: lil-597617
16.
Signals from damaged but not undamaged skeletal muscle induce myogenic differentiation of rat bone-marrow-derived mesenchymal stem cells.
Exp Cell Res
; 300(2): 418-26, 2004 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-15475006
17.
[Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ]. / Frecuencia del polimorfismo C677T de la 5, 10-metilentetrahidrofolato reductasa (MTHFR) en mujeres chilenas madres de afectados con espina bífida y en controles normales.
Rev Med Chil
; 131(12): 1399-404, 2003 Dec.
Artigo
Espanhol
| MEDLINE | ID: mdl-15022402
18.
Experiencia en el diagnóstico, pesquisa en cascada y manejo multidisciplinario de pacientes con síndrome X frágil / Experience in diagnosis, cascade screening and multidisciplinary management of patients with fragile X syndrome
Rev. Soc. Psiquiatr. Neurol. Infanc. Adolesc
; 23(2): 93-103, ago. 2012. ilus, tab
Artigo
Espanhol
| LILACS | ID: lil-677246
19.
Diagnóstico citogenético-molecular del síndrome Xq frágil / Diagnostic testing in fragile X syndrome
Rev. chil. tecnol. méd
; 27(1): 1339-1346, jul. 2007. ilus, graf
Artigo
Espanhol
| LILACS | ID: lil-474858