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Items: 1 to 20 of 60


Early genetic testing of STK11 is important for management and genetic counseling for Peutz-Jeghers syndrome.

Shen N, Li D, Zhu Y, Xie H, Lu Y.

Dig Liver Dis. 2019 Jun 27. pii: S1590-8658(19)30657-7. doi: 10.1016/j.dld.2019.06.003. [Epub ahead of print] No abstract available.


Hereditary elliptocytosis with variable expression and incomplete penetrance in a Chinese family.

Wang X, Liu A, Huang M, Shen N, Lu Y, Hu Q.

Br J Haematol. 2019 Jun 5. doi: 10.1111/bjh.15999. [Epub ahead of print] No abstract available.


Lactate Is a Natural Suppressor of RLR Signaling by Targeting MAVS.

Zhang W, Wang G, Xu ZG, Tu H, Hu F, Dai J, Chang Y, Chen Y, Lu Y, Zeng H, Cai Z, Han F, Xu C, Jin G, Sun L, Pan BS, Lai SW, Hsu CC, Xu J, Chen ZZ, Li HY, Seth P, Hu J, Zhang X, Li H, Lin HK.

Cell. 2019 Jun 27;178(1):176-189.e15. doi: 10.1016/j.cell.2019.05.003. Epub 2019 May 30.


Fabrication of Micro-Structured Polymer by Micro Injection Molding Based on Precise Micro-Ground Mold Core.

Lu Y, Chen F, Wu X, Zhou C, Lou Y, Li L.

Micromachines (Basel). 2019 Apr 16;10(4). pii: E253. doi: 10.3390/mi10040253.


Circulating essential metals and lung cancer: Risk assessment and potential molecular effects.

Bai Y, Wang G, Fu W, Lu Y, Wei W, Chen W, Wu X, Meng H, Feng Y, Liu Y, Li G, Wang S, Wang K, Dai J, Li H, Li M, Huang J, Li Y, Wei S, Yuan J, Yao P, Miao X, He M, Zhang X, Yang H, Wu T, Guo H.

Environ Int. 2019 Jun;127:685-693. doi: 10.1016/j.envint.2019.04.021. Epub 2019 Apr 13.


Circular HDAC9/microRNA-138/Sirtuin-1 Pathway Mediates Synaptic and Amyloid Precursor Protein Processing Deficits in Alzheimer's Disease.

Lu Y, Tan L, Wang X.

Neurosci Bull. 2019 Mar 18. doi: 10.1007/s12264-019-00361-0. [Epub ahead of print]


Effect of catalysts on distribution of polycyclic-aromatic hydrocarbon (PAHs) in bio-oils from the pyrolysis of dewatered sewage sludge at high and low temperatures.

Hu Y, Yu W, Wibowo H, Xia Y, Lu Y, Yan M.

Sci Total Environ. 2019 Jun 1;667:263-270. doi: 10.1016/j.scitotenv.2019.02.320. Epub 2019 Feb 26.


Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice.

Wang X, Liu A, Lu Y, Hu Q.

Mol Med Rep. 2019 Apr;19(4):2801-2807. doi: 10.3892/mmr.2019.9947. Epub 2019 Feb 8.


Vitamin D receptor polymorphisms and the susceptibility of Parkinson's disease.

Wang X, Shen N, Lu Y, Tan K.

Neurosci Lett. 2019 Apr 23;699:206-211. doi: 10.1016/j.neulet.2019.02.018. Epub 2019 Feb 11.


Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.

Shen N, Wang T, Li D, Liu A, Lu Y.

BMC Med Genet. 2019 Feb 13;20(1):30. doi: 10.1186/s12881-019-0758-2.


F8 IVS9+5G>A mutation causes moderate haemophilia A.

Li D, Chang W, Tang N, Shen N, Lu Y, Wang X, Hu Q.

Haemophilia. 2019 Mar;25(2):e132-e135. doi: 10.1111/hae.13702. Epub 2019 Feb 12. No abstract available.


PROS1 IVS10+5G>A mutation causes hereditary protein S deficiency in a Chinese patient with pulmonary embolism and venous thromboembolism.

Wang X, Tang N, Wang X, Lu Y, Yang J.

Thromb Res. 2019 Feb;174:1-4. doi: 10.1016/j.thromres.2018.12.009. Epub 2018 Dec 6. No abstract available.


Evaluation on the tribological performance of ring/liner system under cylinder deactivation with consideration of cylinder liner deformation and oil supply.

Lu Y, Liu C, Zhang Y, Wang J, Yao K, Du Y, Müller N.

PLoS One. 2018 Sep 17;13(9):e0204179. doi: 10.1371/journal.pone.0204179. eCollection 2018.


Hemophagocytic lymphohistiocytosis and congenital factor VII deficiency: a case report.

Wang X, Tang N, Chang W, Lu Y, Li D.

BMC Med Genet. 2018 Sep 12;19(1):163. doi: 10.1186/s12881-018-0673-y.


Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.

Wang X, Tan L, Shen N, Lu Y, Zhang Y.

BMC Med Genet. 2018 Jul 18;19(1):120. doi: 10.1186/s12881-018-0642-5.


Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism.

Wang X, Shen N, Huang M, Lu Y, Hu Q.

Haematologica. 2018 May;103(5):e219-e222. doi: 10.3324/haematol.2017.186551. Epub 2018 Feb 15. No abstract available.


Evaluating the diagnostic accuracy of the Xpert MTB/RIF assay on bronchoalveolar lavage fluid: A retrospective study.

Lu Y, Zhu Y, Shen N, Tian L, Sun Z.

Int J Infect Dis. 2018 Jun;71:14-19. doi: 10.1016/j.ijid.2018.01.030. Epub 2018 Feb 8.


An ANK1 IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis.

Wang X, Mao L, Shen N, Peng J, Zhu Y, Hu Q, Lu Y.

Oncotarget. 2017 Dec 5;8(68):113282-113286. doi: 10.18632/oncotarget.22936. eCollection 2017 Dec 22.


Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS.

Wang X, Yi B, Mu K, Shen N, Zhu Y, Hu Q, Lu Y.

Oncotarget. 2017 May 27;8(57):96791-96797. doi: 10.18632/oncotarget.18243. eCollection 2017 Nov 14.


Mutational analysis of a Chinese family with oculocutaneous albinism type 2.

Wang X, Zhu Y, Shen N, Peng J, Wang C, Liu H, Lu Y.

Oncotarget. 2017 Jul 31;8(41):70345-70355. doi: 10.18632/oncotarget.19697. eCollection 2017 Sep 19.

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