Detalhe da pesquisa
1.
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
Brain
; 141(5): 1286-1299, 2018 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29481671
2.
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.
J Pediatr
; 165(4): 858-61, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25066065
3.
A/T mutagenesis in hypermutated immunoglobulin genes strongly depends on PCNAK164 modification.
J Exp Med
; 204(8): 1989-98, 2007 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-17664295
4.
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting.
Am J Obstet Gynecol
; 204(3): 205.e1-11, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21310373
5.
High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs.
Proc Natl Acad Sci U S A
; 105(44): 17079-84, 2008 Nov 04.
Artigo
Inglês
| MEDLINE | ID: mdl-18971340
6.
Quantification of fetal DNA by use of methylation-based DNA discrimination.
Clin Chem
; 56(10): 1627-35, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20729299
7.
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Brain
; 131(Pt 4): 1078-86, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18321925
8.
High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.
Hum Mutat
; 29(10): 1247-54, 2008 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-18470942
9.
Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles.
J Mol Diagn
; 10(6): 496-501, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18832455
10.
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
Hum Mutat
; 28(2): 207, 2007 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-17221866
11.
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.
Eur J Hum Genet
; 15(12): 1276-9, 2007 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-17895902
12.
Rapid and quantitative detection of homologous and non-homologous recombination events using three oligonucleotide MLPA.
Nucleic Acids Res
; 33(22): e188, 2005 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-16340005
13.
Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.
Nucleic Acids Res
; 33(14): e128, 2005 Aug 16.
Artigo
Inglês
| MEDLINE | ID: mdl-16106041
14.
Key differences between 13 KRAS mutation detection technologies and their relevance for clinical practice.
ESMO Open
; 2(4): e000235, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29018576
15.
Epigenetic events of disease progression in head and neck squamous cell carcinoma.
Arch Otolaryngol Head Neck Surg
; 132(6): 668-77, 2006 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-16785414
16.
Ultrasensitive Detection of Multiplexed Somatic Mutations Using MALDI-TOF Mass Spectrometry.
J Mol Diagn
; 18(1): 23-31, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26596526
17.
Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.
Genet Test
; 8(3): 248-56, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-15727247
18.
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
Hum Mutat
; 28(7): 739-40, 2007 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-17345589
19.
Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b.
Genet Test Mol Biomarkers
; 14(1): 135-9, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19916794
20.
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Eur J Hum Genet
; 18(12): 1315-21, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20648054