Detalhe da pesquisa
1.
Whole-genome sequencing of genetically undiagnosed euploid fetuses with increased nuchal translucency: abridged secondary publication.
Hong Kong Med J
; 28 Suppl 1(1): 8-10, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260507
2.
Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center.
Ultrasound Obstet Gynecol
; 43(3): 254-64, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24339153
3.
Feasibility of short double-balloon enteroscopy-assisted endoscopic retrograde cholangiopancreatography in patients with surgically altered gastrointestinal anatomy: experience in a regional centre.
Hong Kong Med J
; 23(6): 648-50, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29226833
4.
Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures.
Clin Genet
; 80(2): 191-5, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20807223
5.
Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.
Clin Genet
; 79(6): 531-8, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20662849
6.
Human nerve growth factor protects common marmosets against autoimmune encephalomyelitis by switching the balance of T helper cell type 1 and 2 cytokines within the central nervous system.
J Exp Med
; 191(10): 1799-806, 2000 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-10811872
7.
Genomic and clinical characteristics of microduplications in chromosome 17.
Am J Med Genet A
; 152A(5): 1101-10, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425816
8.
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature.
Am J Med Genet A
; 152A(3): 732-6, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186791
9.
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Am J Med Genet A
; 152A(3): 573-81, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186804
10.
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.
J Med Genet
; 46(9): 626-34, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19052029
11.
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
J Med Genet
; 46(3): 168-75, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18812404
12.
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
J Med Genet
; 46(6): 382-8, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19289393
13.
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
J Med Genet
; 46(12): 825-33, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19584063
14.
10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences.
Cytogenet Genome Res
; 124(1): 102-5, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19372675
15.
CYP2B6-G516T genotype influences plasma efavirenz concentration in a Hong Kong population, allowing potential individualization of therapy.
HIV Med
; 15(1): 63-4, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24299220
16.
Identification of critical regions for clinical features of distal 10q deletion syndrome.
Clin Genet
; 76(1): 54-62, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19558528
17.
Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.
Am J Med Genet A
; 146A(18): 2361-9, 2008 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18698622
18.
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
Am J Med Genet B Neuropsychiatr Genet
; 147B(6): 799-806, 2008 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18165974
19.
Discontinuation of orthokeratology on eyeball elongation (DOEE).
Cont Lens Anterior Eye
; 40(2): 82-87, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28038841
20.
A retrospective study of preimplantation embryos diagnosed with monosomy by fluorescence in situ hybridization (FISH).
Cytogenet Genome Res
; 114(3-4): 359-66, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16954679