Detalhe da pesquisa
1.
Prevalence of Fragile X Syndrome among children receiving special education and carrier states in first degree relatives.
Ceylon Med J
; 62(2): 92-96, 2017 06 30.
Artigo
Inglês
| MEDLINE | ID: mdl-28697590
2.
Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis.
Am J Transplant
; 15(12): 3229-38, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26147534
3.
Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification.
Nat Genet
; 6(1): 19-23, 1994 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-8136827
4.
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.
Nat Genet
; 10(3): 344-50, 1995 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-7670474
5.
An update on ABCB1 pharmacogenetics: insights from a 3D model into the location and evolutionary conservation of residues corresponding to SNPs associated with drug pharmacokinetics.
Pharmacogenomics J
; 11(5): 315-25, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21625253
6.
Single-tube tetradecaplex panel of highly polymorphic microsatellite markers < 1 Mb from F8 for simplified preimplantation genetic diagnosis of hemophilia A.
J Thromb Haemost
; 15(7): 1473-1483, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28345288
7.
Haplotype diversity in 11 candidate genes across four populations.
Genetics
; 171(1): 259-67, 2005 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-15965248
8.
Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia.
Am J Med Genet
; 86(4): 316-20, 1999 Oct 08.
Artigo
Inglês
| MEDLINE | ID: mdl-10494085
9.
Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase.
Am J Med Genet
; 51(4): 522-6, 1994 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-7943034
10.
The role of single nucleotide polymorphisms (SNPs) in understanding complex disorders and pharmacogenomics.
Ann Acad Med Singap
; 29(3): 376-82, 2000 May.
Artigo
Inglês
| MEDLINE | ID: mdl-10976393
11.
Spinocerebellar ataxia type 2 with focal epilepsy--an unusual association.
Ann Acad Med Singap
; 33(1): 103-6, 2004 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-15008574
12.
Breast cancer detection from MR images through an auto-probing discrete Fourier transform system.
Comput Biol Med
; 49: 46-59, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24736203
13.
Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay.
J Med Genet
; 41(4): e45, 2004 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-15060121
14.
MDR1, the blood-brain barrier transporter, is associated with Parkinson's disease in ethnic Chinese.
J Med Genet
; 41(5): e60, 2004 May.
Artigo
Inglês
| MEDLINE | ID: mdl-15121788
15.
Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.
Hum Genet
; 120(4): 501-18, 2006 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-16953426
16.
Extracellular matrix-dependent regulation of angiogenin expression in human placenta.
J Cell Biochem
; 96(1): 36-46, 2005 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-15988760
17.
Hypoxia up-regulated angiogenin and down-regulated vascular cell adhesion molecule-1 expression and secretion in human placental trophoblasts.
J Soc Gynecol Investig
; 12(5): 310-9, 2005 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-15979542
18.
Expression and fate of CAT reporter gene microinjected into fertilized medaka (Oryzias latipes) eggs in the form of plasmid DNA, recombinant phage particles and its DNA.
Theor Appl Genet
; 78(3): 369-80, 1989 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24227244
19.
Reconstitution of transcription from the human U6 small nuclear RNA promoter with eight recombinant polypeptides and a partially purified RNA polymerase III complex.
J Biol Chem
; 276(23): 20727-34, 2001 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-11279001
20.
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.
Blood
; 95(1): 360-2, 2000 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-10607725