Publication catalog

Biomedical publications with connected research

Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.

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Publications

Page 7867 of 10600

High-Throughput Copy Number Profiling by Digital Multiplex Ligation-Dependent Probe Amplification in Multiple Myeloma.
The Journal of molecular diagnostics : JMD | 2018-11-01 | PMID 30096382
Kosztolányi Szabolcs, Kiss Richárd, Atanesyan Lilit and 11 more
Cloning and biochemical characterization of three glucose‑6‑phosphate dehydrogenase mutants presents in the Mexican population.
International journal of biological macromolecules | 2018-11-01 | PMID 30096395
Cortés-Morales Yadira Yazmín, Vanoye-Carlo America, Castillo-Rodríguez Rosa Angélica and 10 more
Genome-wide haplotype association study identifies risk genes for non-small cell lung cancer.
Journal of theoretical biology | 2018-11-07 | PMID 30096405
Teng Yanbo, Ding Yanjun, Zhang Mingming and 6 more
Genes: CDH3, ESR1, INSR, TGFBR1
Exogenous Vitamin D signaling alters skeletal patterning, differentiation, and tissue integration during limb regeneration in the axolotl.
Mechanisms of development | 2018-10-01 | PMID 30096415
Vieira Warren A, Wells Kaylee M, Milgrom Roni and 1 more
Association between the EPHX2 p.Lys55Arg polymorphism and prognosis following an acute coronary syndrome.
Prostaglandins & other lipid mediators | 2018-09-01 | PMID 30096423
Oni-Orisan Akinyemi, Cresci Sharon, Jones Philip G and 3 more
Genes: EPHX2
Genetic variants within 17q12 are associated with the risk of cervical cancer in the Han Chinese population.
Gene | 2018-12-15 | PMID 30096453
Hu Lingmin, Jia Meiqun, Zhou Jing and 5 more
CRISPLD1 rs12115090 polymorphisms alters antiplatelet potency of clopidogrel in coronary artery disease patients in Chinese Han.
Gene | 2018-12-15 | PMID 30096456
Wang Jie-Ya, Zhang Yan-Jiao, Li He and 6 more
Genes: CAD, CRISPLD1
Activity of Afatinib in Heavily Pretreated Patients With ERBB2 Mutation-Positive Advanced NSCLC: Findings From a Global Named Patient Use Program.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer | 2018-12-01 | PMID 30096481
Peters Solange, Curioni-Fontecedro Alessandra, Nechushtan Hovav and 10 more
Genes: ERBB2, EGFR
Ischemic tau protein gene induction as an additional key factor driving development of Alzheimer's phenotype changes in CA1 area of hippocampus in an ischemic model of Alzheimer's disease.
Pharmacological reports : PR | 2018-10-01 | PMID 30096486
Pluta Ryszard, Bogucka-Kocka Anna, Ułamek-Kozioł Marzena and 4 more
Integration of bioinformatics and experiments to identify TP53 as a potential target in Emodin inhibiting diffuse large B cell lymphoma.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2018-11-01 | PMID 30096626
Chen Yanxin, Mei Xuqiao, Gan Donghui and 7 more
Genes: DPT
Possible immune adverse events as predictors of durable response to BRAF inhibitors in patients with BRAF V600-mutant metastatic melanoma.
European journal of cancer (Oxford, England : 1990) | 2018-09-01 | PMID 30096703
Ben-Betzalel Guy, Baruch Erez N, Boursi Ben and 5 more
Genes: BRAF
Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.
Stem cell research | 2018-08-01 | PMID 30096711
Zurita-Díaz Francisco, Ortuño-Costela María Del Carmen, Moreno-Izquierdo Ana and 5 more
Generation of a human Juvenile myelomonocytic leukemia iPSC line, CHOPi001-A, with a mutation in CBL.
Stem cell research | 2018-08-01 | PMID 30096712
Gagne Alyssa L, Maguire Jean Ann, Gandre-Babbe Shilpa and 6 more
Genes: CBL
Dietary Inflammatory Index and Biomarkers of Lipoprotein Metabolism, Inflammation and Glucose Homeostasis in Adults.
Nutrients | 2018-08-08 | PMID 30096775
Phillips Catherine M, Shivappa Nitin, Hébert James R and 1 more
Genes: CRP, TNF
Lactase Persistence, Milk Intake, and Adult Acne: A Mendelian Randomization Study of 20,416 Danish Adults.
Nutrients | 2018-08-08 | PMID 30096803
Juhl Christian R, Bergholdt Helle K M, Miller Iben M and 3 more
Genes: LCT
Trans-Ethnic Mapping of BANK1 Identifies Two Independent SLE-Risk Linkage Groups Enriched for Co-Transcriptional Splicing Marks.
International journal of molecular sciences | 2018-08-08 | PMID 30096841
Martínez-Bueno Manuel, Oparina Nina, Dozmorov Mikhail G and 14 more
Genes: RUNX3
Sanger and Next Generation Sequencing Approaches to Evaluate HIV-1 Virus in Blood Compartments.
International journal of environmental research and public health | 2018-08-09 | PMID 30096879
Arias Andrea, López Pablo, Sánchez Raphael and 2 more
Neutralizing Epitopes and Residues Mediating the Potential Antigenic Drift of the Hemagglutinin-Esterase Protein of Influenza C Virus.
Viruses | 2018-08-09 | PMID 30096880
Matsuzaki Yoko, Sugawara Kanetsu, Furuse Yuki and 4 more
Genetic and Physio-Biochemical Characterization of a Novel Premature Senescence Leaf Mutant in Rice (Oryza sativa L.).
International journal of molecular sciences | 2018-08-09 | PMID 30096885
He Yan, Zhang Zhihong, Li Liangjian and 2 more
High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females.
BMC genetics | 2018-08-10 | PMID 30097005
Islam Md Tarikul, Sarker Suprovath Kumar, Talukder Shezote and 21 more
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
BMC medical genetics | 2018-08-10 | PMID 30097038
Zhou Zhaowei, Ma Lidan, Zhou Juan and 8 more
Genes: PDZK1
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
BMC medical genetics | 2018-08-10 | PMID 30097039
Collet Corinne, Laplanche Jean-Louis, Page Justine and 3 more
Wilms tumor, pleuropulmonary blastoma, and DICER1: case report and literature review.
World journal of surgical oncology | 2018-08-10 | PMID 30097050
Abbo Olivier, Pinnagoda Kalitha, Brouchet Laurent and 6 more
Genes: DICER1
A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.
Neuromuscular disorders : NMD | 2018-09-01 | PMID 30097247
Plewa Jake, Surampalli Abhilasha, Wencel Marie and 6 more
Genes: VCP
A machine learning-based prediction model of H3K27M mutations in brainstem gliomas using conventional MRI and clinical features.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology | 2019-01-01 | PMID 30097251
Pan Chang-Cun, Liu Jia, Tang Jie and 12 more
The interaction effects of polycyclic aromatic hydrocarbons exposure and TERT- CLPTM1L variants on longitudinal telomere length shortening: A prospective cohort study.
Environmental pollution (Barking, Essex : 1987) | 2018-11-01 | PMID 30097281
Fu Wenshan, Chen Zhuowang, Bai Yansen and 10 more
Genes: TERT, PAH
FinR Regulates Expression of nicC and nicX Operons, Involved in Nicotinic Acid Degradation in Pseudomonas putida KT2440.
Applied and environmental microbiology | 2018-10-15 | PMID 30097438
Xiao Yujie, Zhu Wenjing, Liu Huizhong and 3 more
Enhancement of Bacillus thuringiensis Cry1Ab and Cry1Fa Toxicity to Spodoptera frugiperda by Domain III Mutations Indicates There Are Two Limiting Steps in Toxicity as Defined by Receptor Binding and Protein Stability.
Applied and environmental microbiology | 2018-10-15 | PMID 30097439
Gómez Isabel, Ocelotl Josue, Sánchez Jorge and 13 more
Broad Phylogenetic Diversity Associated with Nitrogen Loss through Sulfur Oxidation in a Large Public Marine Aquarium.
Applied and environmental microbiology | 2018-10-15 | PMID 30097447
Burns Andrew S, Padilla Cory C, Pratte Zoe A and 5 more
Orthologues of Bacillus subtilis Spore Crust Proteins Have a Structural Role in the Bacillus megaterium QM B1551 Spore Exosporium.
Applied and environmental microbiology | 2018-10-15 | PMID 30097448
Manetsberger Julia, Ghosh Abhinaba, Hall Elizabeth A H and 1 more
Mechanism of Fibrosis in HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease.
Journal of the American Society of Nephrology : JASN | 2018-10-01 | PMID 30097458
Chan Siu Chiu, Zhang Ying, Shao Annie and 5 more
Plant Phenotyping: An Active Vision Cell for Three-Dimensional Plant Shoot Reconstruction.
Plant physiology | 2018-10-01 | PMID 30097468
Gibbs Jonathon A, Pound Michael, French Andrew P and 3 more
Genomic Signatures of Adaptation to a Precipitation Gradient in Nigerian Sorghum.
G3 (Bethesda, Md.) | 2018-10-03 | PMID 30097471
Olatoye Marcus O, Hu Zhenbin, Maina Fanna and 1 more
Whole Genome Sequencing, de Novo Assembly and Phenotypic Profiling for the New Budding Yeast Species Saccharomyces jurei.
G3 (Bethesda, Md.) | 2018-08-30 | PMID 30097472
Naseeb Samina, Alsammar Haya, Burgis Tim and 4 more
Noninvasive Detection of ctDNA Reveals Intratumor Heterogeneity and Is Associated with Tumor Burden in Gastrointestinal Stromal Tumor.
Molecular cancer therapeutics | 2018-11-01 | PMID 30097488
Namløs Heidi M, Boye Kjetil, Mishkin Skyler J and 8 more
Genes: KIT, PDGFRA
An exTREMe disruption in Alzheimer's cleanup.
The Journal of biological chemistry | 2018-08-10 | PMID 30097493
Dodd Roger B
Genes: TREM2
Determinants of body fat distribution in humans may provide insight about obesity-related health risks.
Journal of lipid research | 2019-10-01 | PMID 30097511
Frank Aaron P, de Souza Santos Roberta, Palmer Biff F and 1 more
Notch3-dependent β-catenin signaling mediates EGFR TKI drug persistence in EGFR mutant NSCLC.
Nature communications | 2018-08-10 | PMID 30097569
Arasada Rajeswara Rao, Shilo Konstantin, Yamada Tadaaki and 21 more
Genes: EGFR
A dormant TIL phenotype defines non-small cell lung carcinomas sensitive to immune checkpoint blockers.
Nature communications | 2018-08-10 | PMID 30097571
Gettinger S N, Choi J, Mani N and 19 more
Elongator mutation in mice induces neurodegeneration and ataxia-like behavior.
Nature communications | 2018-08-10 | PMID 30097576
Kojic Marija, Gaik Monika, Kiska Bence and 14 more
Genes: NLRP3
Biology and genome of a newly discovered sibling species of Caenorhabditis elegans.
Nature communications | 2018-08-10 | PMID 30097582
Kanzaki Natsumi, Tsai Isheng J, Tanaka Ryusei and 22 more
Genome-wide association study and genomic prediction using parental and breeding populations of Japanese pear (Pyrus pyrifolia Nakai).
Scientific reports | 2018-08-10 | PMID 30097588
Minamikawa Mai F, Takada Norio, Terakami Shingo and 6 more
A superfolder variant of pH-sensitive pHluorin for in vivo pH measurements in the endoplasmic reticulum.
Scientific reports | 2018-08-10 | PMID 30097598
Reifenrath Mara, Boles Eckhard
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
European journal of human genetics : EJHG | 2018-12-01 | PMID 30097616
Boczek Nicole J, Hopp Katharina, Benoit Lacey and 12 more
Adenosine Kinase couples sensing of cellular potassium depletion to purine metabolism.
Scientific reports | 2018-08-10 | PMID 30097648
de Oliveira Renata Rocha, Morales-Neto Raphael, Rocco Silvana Aparecida and 7 more
Genes: ADK, ADO
Genome-wide investigation of an ID cohort reveals de novo 3'UTR variants affecting gene expression.
Human genetics | 2018-09-01 | PMID 30097719
Devanna Paolo, van de Vorst Maartje, Pfundt Rolph and 2 more
Genes: AMD1, FAIM
Comparative genomics of human rubulavirus 2.
Archives of virology | 2018-11-01 | PMID 30097744
Šantak Maja, Mlinarić-Galinović Gordana, Vilibić-Čavlek Tatjana and 1 more
Genetic diversity and phylogenetic analysis of newly discovered bat astroviruses in Korea.
Archives of virology | 2018-11-01 | PMID 30097745
Lee Sook-Young, Son Ki-Dong, Yong-Sik Kim and 4 more
Age- and height-adjusted total kidney volume growth rate in autosomal dominant polycystic kidney diseases.
Clinical and experimental nephrology | 2019-01-01 | PMID 30097754
Higashihara Eiji, Yamamoto Kouji, Kaname Shinya and 7 more
Genes: PKD1, PKD2
A novel genetic marker of decreased inflammation and improved survival after acute myocardial infarction.
Basic research in cardiology | 2018-08-10 | PMID 30097758
Coverstone Edward D, Bach Richard G, Chen LiShiun and 9 more
Genes: CHRNA5
Vagal Tone as a Putative Mechanism for Pragmatic Competence: An Investigation of Carriers of the FMR1 Premutation.
Journal of autism and developmental disorders | 2019-01-01 | PMID 30097759
Klusek Jessica, Fairchild Amanda J, Roberts Jane E
Genes: FMR1
The characteristics of digenic familial exudative vitreoretinopathy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie | 2018-11-01 | PMID 30097784
Li Yian, Peng Jie, Li Jiakai and 6 more
Genes: FZD4, LRP5, TSPAN12, NDP
Treatment of Chronic Hepatitis C Infection with Direct Acting Antivirals in Adolescents with Thalassemia Major.
Indian journal of pediatrics | 2019-02-01 | PMID 30097845
Nagral Aabha, Jhaveri Ajay, Sawant Smita and 4 more
Candidate susceptibility variants in angioimmunoblastic T-cell lymphoma.
Familial cancer | 2019-01-01 | PMID 30097855
Donner Iikki, Katainen Riku, Kaasinen Eevi and 4 more
Genes: PRKCB, POLK, FYN, IDH2, OSGEPL1, OTOG, PCDHGB6, PLCG1
Prostate Cancer in Primary Care.
Advances in therapy | 2018-09-01 | PMID 30097885
Merriel Samuel W D, Funston Garth, Hamilton Willie
Characterization of clarithromycin heteroresistance among Helicobacter pylori strains isolated from the antrum and corpus of the stomach.
Folia microbiologica | 2019-03-01 | PMID 30097895
Farzi Nastaran, Behzad Catherine, Hasani Zahra and 3 more
Everolimus in infants with tuberous sclerosis complex-related West syndrome: First results from a single-center prospective observational study.
Epilepsia | 2018-09-01 | PMID 30098008
Samueli Sharon, Dressler Anastasia, Gröppel Gudrun and 2 more
Genes: TSC2
Reliable identification of women with CIN3+ using hrHPV genotyping and methylation markers in a cytology-screened referral population.
International journal of cancer | 2019-01-01 | PMID 30098013
Leeman Annemiek, Del Pino Marta, Marimon Lorena and 7 more
Histone H3K36M mutation and trimethylation patterns in chondroblastoma.
Histopathology | 2019-01-01 | PMID 30098026
Lu Chuanyong, Ramirez Daniel, Hwang Sinchun and 8 more
Genes: SATB2
Metabolism of steroids by cytochrome P450 2C9 variants.
Biopharmaceutics & drug disposition | 2018-09-01 | PMID 30098040
Uno Tomohide, Nakano Ryosuke, Kitagawa Risa and 5 more
Combined inhibition of MEK and PI3K pathways overcomes acquired resistance to EGFR-TKIs in non-small cell lung cancer.
Cancer science | 2018-10-01 | PMID 30098066
Sato Hiroki, Yamamoto Hiromasa, Sakaguchi Masakiyo and 13 more
Genes: EGFR, MET
Variability in response to salinity stress in natural Tunisian populations of Hordeum marinum subsp. marinum.
Plant biology (Stuttgart, Germany) | 2019-01-01 | PMID 30098080
Saoudi W, Badri M, Taamalli W and 3 more
Genes: SRI
Deep sequencing identified potential miRNAs involved in defence response, stress and plant growth characteristics of wild genotypes of cardamom.
Plant biology (Stuttgart, Germany) | 2019-01-01 | PMID 30098091
Nadiya F, Anjali N, Thomas J and 2 more
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
European journal of neurology | 2019-01-01 | PMID 30098094
Mancini C, Giorgio E, Rubegni A and 24 more
Genes: SPG7
The Arabidopsis THADA homologue modulates TOR activity and cold acclimation.
Plant biology (Stuttgart, Germany) | 2019-01-01 | PMID 30098100
Dong Y, Teleman A A, Jedmowski C and 2 more
GhSTOP1, a C2H2 type zinc finger transcription factor is essential for aluminum and proton stress tolerance and lateral root initiation in cotton.
Plant biology (Stuttgart, Germany) | 2019-01-01 | PMID 30098101
Kundu A, Das S, Basu S and 4 more
Exploring genetic modifiers of Gaucher disease: The next horizon.
Human mutation | 2018-12-01 | PMID 30098107
Davidson Brad A, Hassan Shahzeb, Garcia Eric Joshua and 2 more
Genes: GBA1
Genetic Penetrance of Macular Telangiectasia Type 2.
JAMA ophthalmology | 2018-10-01 | PMID 30098143
Ronquillo Cecinio C, Wegner Kimberley, Calvo Charles M and 1 more
Association of MUC16 Mutation With Tumor Mutation Load and Outcomes in Patients With Gastric Cancer.
JAMA oncology | 2018-12-01 | PMID 30098163
Li Xiangchun, Pasche Boris, Zhang Wei and 1 more
Genes: MUC16, BRCA1, POLE
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.
Investigative ophthalmology & visual science | 2018-08-01 | PMID 30098192
Shaaban Sherin, MacKinnon Sarah, Andrews Caroline and 14 more
Instability of TCF4 Triplet Repeat Expansion With Parent-Child Transmission in Fuchs' Endothelial Corneal Dystrophy.
Investigative ophthalmology & visual science | 2018-08-01 | PMID 30098193
Saade Joanna S, Xing Chao, Gong Xin and 2 more
Genes: TCF4
A novel fusion gene PLEKHA6-NTRK3 in langerhans cell histiocytosis.
International journal of cancer | 2019-01-01 | PMID 30098202
Cai Jiaoyang, Huang Xia, Yin Minzhi and 8 more
Genes: NTRK3, PLEKHA6, BRAF
Breast ultrasonography (BU) in the screening protocol for women at hereditary-familial risk of breast cancer: has the time come to rethink the role of BU according to different risk categories?
International journal of cancer | 2019-03-01 | PMID 30098212
Cortesi Laura, Canossi Barbara, Battista Rachele and 8 more
ABCA1 overexpression worsens colorectal cancer prognosis by facilitating tumour growth and caveolin-1-dependent invasiveness, and these effects can be ameliorated using the BET inhibitor apabetalone.
Molecular oncology | 2018-10-01 | PMID 30098223
Aguirre-Portolés Cristina, Feliu Jaime, Reglero Guillermo and 1 more
Genes: ABCA1, APOA1
[Screening for spinal muscular atrophy mutation carriers among 4931 pregnant women from Liuzhou region of Guangxi].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098235
Tan Jianqiang, Zhang Xu, Wang Yuanliu and 4 more
Genes: SMN1
[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098236
Hu Shuang, Mei Shiyue, Bai Ying and 1 more
[Analysis of SLC25A13 gene mutations and prenatal diagnosis for 20 families affected with citrin deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098237
Shi Shanshan, Tang Xiaomei, Shi Zijian and 6 more
[Analysis of NF1 gene mutations among eleven sporadic patients with neurofibromatosis type 1].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098238
Peng Chunyan, Ma Shi, Tang Xianglan and 1 more
[Analysis of NF1 gene mutations in two sporadic patients with neurofibromatosis type 1].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098240
Zhao Xiaoyan, Zhou Qian, Cai Liangqi and 4 more
[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098241
Miao Yequan, Zhu Yueyue, Zhang Qigang and 6 more
Genes: NIPBL, HDAC8, RAD21, SMC3
[Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098242
Liu Zhenjun, Liao Hong, Zhang Xuemei and 4 more
Genes: DYSF
[Clinical features and genetic analysis of seven patients with congenital hyperinsulinism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098243
Zhang Yanan, Pi Yalei, Yan Xue and 3 more
Genes: ABCC8, GLUD1, UCP2
[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098244
Li Shirong, Chen Yongping, Yuan Xiaoqin and 4 more
Genes: SACS
[Analysis of DSPP gene mutation in a Chinese pedigree affected with hereditary dentinogenesis imperfecta].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098245
Hu Aiqin, Li Xiaocong, Chen Danna and 5 more
Genes: DSPP
[Analysis of FOXL2 gene mutation and genotype-phenotype correlation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098246
Cheng Hongbo, Wang Tao, Wang Gaigai and 7 more
Genes: FOXL2
[Analysis of TGFBI gene mutation in a Chinese pedigree affected with lattice corneal dystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098247
Duan Honghui, Zheng Libin, Wu Haijian and 2 more
Genes: TGFBI
[Identification of compound heterozygous mutations p.Gly400Val and p.Arg532Ter of the F11 gene in a Chinese patient with hereditary factor XI deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098248
Shu Kuangyi, Xu Kai, Li Fanfan and 6 more
Genes: AGA
[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098249
Chang Guoying, Zhou Yunfang, Yin Lei and 5 more
Genes: EBP
[Phenotypic and genetic analysis of a boy with 3p26.3-pter deletion and 7q31.33-qter duplication].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098251
Feng Liyun, Cai Weiyi, Jiang Jiusheng and 3 more
[Genotypic and phenotypic analysis of a case with inherited coagulation factor X deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098253
Chen Tao, Li Fanfan, Shu Kuangyi and 6 more
[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098256
Mei Jin, Wang Min, Wang Xiaohua and 1 more
Genes: NIPBL, RAD21, SMC3
[Association of single nucleotide polymorphisms of LEPR gene with essential hypertension among ethnic Mongolian and Han Chinese from Inner Mongolia region].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098257
Yuan Menglu, Bi Lifu, Su Xiulan
Genes: LEPR
[Association of TPH2 gene polymorphism with response to antidepressant treatment among ethnic Han Chinese population].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098258
Yu Jianying, Dong Zaiquan, Yu Tao and 2 more
Genes: TPH2
[Association of coagulation factor V gene polymorphism with unexplained recurrent spontaneous abortion among ethnic Hans from Wenzhou area].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098260
Xu Xiaomin, Zheng Jiayong, Wang Hai and 4 more
[Association of vascular endothelial growth factor gene polymorphisms with Crohn's disease among Chinese patients].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098261
Pei Jihua, Yu Liqin, Xia Xuanping and 4 more
[Association of GPER gene polymorphism with social function of children with attention deficit hyperactivity disorder].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098262
Xiao Gefei, Zhou Xiang, Huang Jianyao and 4 more
[Progress in genetic research on primary pulmonary hypertension].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-08-10 | PMID 30098265
Wang Binbin, Wu Qinghua
Genes: BMPR2, CAV1, ENG, KCNK3, NFU1
Introduction to Neurogenetics.
The American journal of medicine | 2019-02-01 | PMID 30098310
Vgontzas Angeliki, Renthal William
Pharmacological blockade of fatty acid amide hydrolase (FAAH) by URB597 improves memory and changes the phenotype of hippocampal microglia despite ethanol exposure.
Biochemical pharmacology | 2018-11-01 | PMID 30098312
Rivera Patricia, Fernández-Arjona María Del Mar, Silva-Peña Daniel and 8 more
Genes: FAAH, CCL2, CCR2, CCR4, CXCL12, TLR4
The Phenotypic Spectrum of Albinism.
Ophthalmology | 2018-12-01 | PMID 30098354
Kruijt Charlotte C, de Wit Gerard C, Bergen Arthur A and 3 more