Detalhe da pesquisa
1.
Reduced PRC2 function alters male germline epigenetic programming and paternal inheritance.
BMC Biol
; 16(1): 104, 2018 09 20.
Artigo
Inglês
| MEDLINE | ID: mdl-30236109
2.
BTB-ZF transcriptional regulator PLZF modifies chromatin to restrain inflammatory signaling programs.
Proc Natl Acad Sci U S A
; 112(5): 1535-40, 2015 Feb 03.
Artigo
Inglês
| MEDLINE | ID: mdl-25605927
3.
Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.
Hum Mutat
; 38(3): 310-316, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28044414
4.
Critical points for an accurate human genome analysis.
Hum Mutat
; 38(8): 912-921, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28471515
5.
Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).
J Neuroinflammation
; 13(1): 81, 2016 Apr 18.
Artigo
Inglês
| MEDLINE | ID: mdl-27090374
6.
Glucocorticoid-induced leucine zipper (GILZ) inhibits B cell activation in systemic lupus erythematosus.
Ann Rheum Dis
; 75(4): 739-47, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26612340
7.
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.
Clin Endocrinol (Oxf)
; 85(2): 247-57, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-26935236
8.
GILZ overexpression inhibits endothelial cell adhesive function through regulation of NF-κB and MAPK activity.
J Immunol
; 191(1): 424-33, 2013 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23729444
9.
Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication.
BMC Genomics
; 15: 329, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24885186
10.
Molecular methods for genotyping complex copy number polymorphisms.
Genomics
; 101(2): 86-93, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23123317
11.
Correlating multiallelic copy number polymorphisms with disease susceptibility.
Hum Mutat
; 34(1): 1-13, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22837109
12.
Complex SNP-related sequence variation in segmental genome duplications.
Nat Genet
; 36(8): 861-6, 2004 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-15247918
13.
SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.
BMC Med Genet
; 13: 108, 2012 Nov 16.
Artigo
Inglês
| MEDLINE | ID: mdl-23157850
14.
Breakpoint characterization of a rare alpha0 -thalassemia deletion using targeted locus amplification on genomic DNA.
Int J Lab Hematol
; 43(6): 1628-1634, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34251753
15.
Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach.
BMC Genomics
; 10: 412, 2009 Sep 04.
Artigo
Inglês
| MEDLINE | ID: mdl-19728890
16.
Rapid and reliable determination of transgene zygosity in mice by multiplex ligation-dependent probe amplification.
Transgenic Res
; 18(6): 987-91, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19504348
17.
Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.
Sci Rep
; 9(1): 15433, 2019 10 28.
Artigo
Inglês
| MEDLINE | ID: mdl-31659207
18.
Skewed X-inactivation is common in the general female population.
Eur J Hum Genet
; 27(3): 455-465, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30552425
19.
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
J Clin Endocrinol Metab
; 93(6): 2421-5, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18349070
20.
Loss of maternal EED results in postnatal overgrowth.
Clin Epigenetics
; 10(1): 95, 2018 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-30005706