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1.
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle.
Future Oncol
; 15(1): 65-79, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-30113232
2.
Combined immune deficiency in a patient with a novel NFKB2 mutation.
J Clin Immunol
; 34(8): 910-5, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25205549
3.
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
Pediatr Blood Cancer
; 61(6): 1034-40, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24470399
4.
Calpains mediate axonal cytoskeleton disintegration during Wallerian degeneration.
Neurobiol Dis
; 56: 34-46, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23542511
5.
Maternally inherited essential hypertension is associated with the novel 4263A>G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family.
Circ Res
; 108(7): 862-70, 2011 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21454794
6.
Development of a machine learning-based signature utilizing inflammatory response genes for predicting prognosis and immune microenvironment in ovarian cancer.
Open Med (Wars)
; 18(1): 20230734, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37273921
7.
Predicting ventilator-associated pneumonia in elderly patients requiring mechanical ventilation through the detection in tracheal aspirates.
Postgrad Med
; 135(8): 831-841, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-38032178
8.
Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family.
J Hum Genet
; 56(4): 330-4, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21307863
9.
Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.
Mol Genet Metab
; 100(4): 379-84, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20627642
10.
Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation.
Antimicrob Agents Chemother
; 53(11): 4612-8, 2009 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-19687236
11.
Low dose naltrexone administration in morphine dependent rats attenuates withdrawal-induced norepinephrine efflux in forebrain.
Prog Neuropsychopharmacol Biol Psychiatry
; 32(4): 1048-56, 2008 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18367303
12.
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.
Gene
; 393(1-2): 11-9, 2007 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-17341440
13.
Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.
Mitochondrion
; 7(1-2): 140-6, 2007.
Artículo
en Inglés
| MEDLINE | ID: mdl-17300996
14.
Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
Cancer Genet
; 216-217: 159-169, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-29025590
15.
The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.
Gene
; 376(1): 79-86, 2006 Jul 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-16624503
16.
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation.
Invest Ophthalmol Vis Sci
; 47(2): 475-83, 2006 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-16431939
17.
Accelerated evolution of the pituitary adenylate cyclase-activating polypeptide precursor gene during human origin.
Genetics
; 170(2): 801-6, 2005 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15834139
18.
[Collection of a Chinese pedigree with Parkinson's disease and linkage analysis of nine susceptibility genes].
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
; 28(3): 368-71, 2006 Jun.
Artículo
en Zh
| MEDLINE | ID: mdl-16900635
19.
Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.
PLoS One
; 11(8): e0156738, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27483465
20.
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
Front Pediatr
; 3: 67, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26284228