Detalhe da pesquisa
1.
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
2.
[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
3.
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
4.
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
5.
[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
6.
Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: lessons for genetic counseling.
Am J Med Genet A
; 167A(1): 261-3, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25287901
7.
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
8.
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
J Neurodev Disord
; 11(1): 41, 2019 12 26.
Artigo
Inglês
| MEDLINE | ID: mdl-31878865
9.
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
10.
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
11.
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
12.
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
13.
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
14.
[Genetic screening to determine an etiologic diagnosis in children with mental retardation]. / Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial.
Rev Med Chil
; 136(12): 1542-51, 2008 Dec.
Artigo
Espanhol
| MEDLINE | ID: mdl-19350171
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.
Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial / Genetic screening to determine an etiologic diagnosis in children with mental retardation
Rev. méd. Chile
; 136(12): 1542-1551, dic. 2008. ilus, tab, graf
Artigo
Espanhol
| LILACS | ID: lil-508907
17.
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
18.
Barber-Say syndrome: further delineation of the clinical spectrum
Genet. mol. biol
; 23(2): 265-7, Jun. 2000. ilus, tab
Artigo
Inglês
| LILACS | ID: lil-288569