Biomedical publications with connected research

Phenotypic and Molecular Characterization of Methicillin-Resistant Staphylococcus aureus Clones Carrying the Panton-Valentine Leukocidin Genes Disseminating in Iranian Hospitals.

Microbial drug resistance (Larchmont, N.Y.) | 2018-12-01 | PMID 29894277

Goudarzi Mehdi, Navidinia Masoumeh, Beiranvand Elham and 1 more

Acute myeloid leukemia carrying ETV6 mutations: biologic and clinical features.

Hematology (Amsterdam, Netherlands) | 2018-10-01 | PMID 29894279

Zhou Fang, Chen Baoan

Genes: ETV6, NTRK3

Characteristics of Resistance Mechanisms and Molecular Epidemiology of Fluoroquinolone-Nonsusceptible Salmonella enterica Serovar Typhi and Paratyphi A Isolates from a Tertiary Hospital in Dhaka, Bangladesh.

Microbial drug resistance (Larchmont, N.Y.) | 2018-12-01 | PMID 29894282

Okanda Takashi, Haque Anwarul, Ehara Tomoko and 4 more

Four-class drug-resistant HIV-1 subtype C in a treatment experienced individual on dolutegravir-based antiretroviral therapy in Botswana.

AIDS (London, England) | 2018-08-24 | PMID 29894383

Seatla Kaelo K, Avalos Ava, Moyo Sikhulile and 9 more

Meta-analysis of GABRB2 polymorphisms and the risk of schizophrenia combined with GWAS data of the Han Chinese population and psychiatric genomics consortium.

PloS one | 2018-01-01 | PMID 29894498

Zhang Tian, Li Jun, Yu Hao and 8 more

Genes: GABRB2, PGC

Two functional indel polymorphisms in the promoter region of the Brahma gene (BRM) and disease risk and progression-free survival in colorectal cancer.

PloS one | 2018-01-01 | PMID 29894502

Yu Yajun, Cheng Dangxiao, Parfrey Patrick and 2 more

Genetic drift precluded adaptation of an insect seed predator to a novel host plant in a long-term selection experiment.

PloS one | 2018-01-01 | PMID 29894503

Laukkanen Liisa, Kalske Aino, Muola Anne and 2 more

MAL73, a novel regulator of maltose fermentation, is functionally impaired by single nucleotide polymorphism in sake brewing yeast.

PloS one | 2018-01-01 | PMID 29894505

Ohdate Takumi, Omura Fumihiko, Hatanaka Haruyo and 5 more

Genes: MAL

Genome-wide association mapping of aluminum toxicity tolerance and fine mapping of a candidate gene for Nrat1 in rice.

PloS one | 2018-01-01 | PMID 29894520

Tao Yonghong, Niu Yanan, Wang Yun and 5 more

Beta catenin is regulated by its subcellular distribution and mutant huntingtin status in Huntington's disease cell STHdhQ111/HdhQ111.

Biochemical and biophysical research communications | 2018-09-03 | PMID 29894684

Ghatak Supratim, Raha Sanghamitra

MiR-182 promotes glucose metabolism by upregulating hypoxia-inducible factor 1α in NSCLC cells.

Biochemical and biophysical research communications | 2018-10-02 | PMID 29894685

Wang Mingliang, Wang Wendong, Wang Jiashun and 1 more

Genes: ENO1, LDHA, PDK1

An optimized method for enrichment of whole brain-derived extracellular vesicles reveals insight into neurodegenerative processes in a mouse model of Alzheimer's disease.

Journal of neuroscience methods | 2018-09-01 | PMID 29894726

Hurwitz Stephanie N, Sun Li, Cole Kalonji Y and 3 more

Characterization and safety evaluation of HPPD W336, a modified 4-hydroxyphenylpyruvate dioxygenase protein, and the impact of its expression on plant metabolism in herbicide-tolerant MST-FGØ72-2 soybean.

Regulatory toxicology and pharmacology : RTP | 2018-08-01 | PMID 29894735

Dreesen Rozemarijn, Capt Annabelle, Oberdoerfer Regina and 2 more

Occurrence and molecular characterization of Cryptosporidium spp., Giardia duodenalis, and Enterocytozoon bieneusi from Tibetan sheep in Gansu, China.

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2018-10-01 | PMID 29894792

Wu Yayun, Chang Yankai, Chen Yuancai and 7 more

The role of CDKN2B in cardiovascular risk in ethnic Saudi Arabs: A validation study.

Gene | 2018-10-05 | PMID 29894795

AlRasheed Maha M, Hefnawy MennatAllah M, Elsherif Nourhan N and 8 more

Genes: CAD

Host subspecific viral strains in European house mice: Murine cytomegalovirus in the Eastern (Mus musculus musculus) and Western house mouse (Mus musculus domesticus).

Virology | 2018-08-01 | PMID 29894896

Čížková Dagmar, Baird Stuart J E, Těšíková Jana and 4 more

The genetic variant "C588T" of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs.

Seizure | 2018-08-01 | PMID 29894917

Abou El Ella Soheir S, Tawfik Maha Atef, Abo El Fotoh Wafaa Moustafa M and 1 more

Discovery of the selective and efficacious inhibitors of FLT3 mutations.

European journal of medicinal chemistry | 2018-07-15 | PMID 29894944

Zhi Yanle, Li Baoquan, Yao Chao and 7 more

Genes: FLT3

Frequent and Rare HABP2 Variants Are Not Associated with Increased Susceptibility to Familial Nonmedullary Thyroid Carcinoma in the Spanish Population.

Hormone research in paediatrics | 2018-01-01 | PMID 29895015

de Randamie Rajdee, Martos-Moreno Gabriel Ángel, Lumbreras César and 8 more

Genes: HABP2, BRAF

Autoimmunity-Associated PTPN22 Polymorphisms in Latent Autoimmune Diabetes of the Adult Differ from Those of Type 1 Diabetes Patients.

International archives of allergy and immunology | 2018-01-01 | PMID 29895027

Heneberg Petr, Kocková Lucie, Čecháková Marie and 2 more

Genes: PTPN22

The promising PARP inhibitors in ovarian cancer therapy: From Olaparib to others.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2018-03-01 | PMID 29895102

Chen Ying, Du Hui

Comprehensive histopathological diagnostics of aggressive B-cell lymphomas based on the updated criteria of the World Health Organisation's 2017 classification.

Polish journal of pathology : official journal of the Polish Society of Pathologists | 2000-01-01 | PMID 29895122

Szumera-Ciećkiewicz Anna, Rymkiewicz Grzegorz, Grygalewicz Beata and 7 more

Genes: BCL2, BCL6, MYC

Single nucleotide polymorphisms of XRCC3 gene in hepatocellular carcinoma - relationship with clinicopathological features.

Polish journal of pathology : official journal of the Polish Society of Pathologists | 2000-01-01 | PMID 29895130

Avadanei Elena-Roxana, Giusca Simona-Eliza, Negura Lucian and 1 more

Genes: XRCC3

DNA profiling of oaks (Quercus spp.)

Archiwum medycyny sadowej i kryminologii | 2000-01-01 | PMID 29895135

Pencakowski Bartosz M, Tokarski Miron, Jonkisz Anna and 3 more

Genes: CEL

Hepatitis B virus vaccine breakthrough infection: surveillance of S gene mutants of HBV.

Acta virologica | 2000-01-01 | PMID 29895151

Qin Y, Liao P

Characterization of a new genotype of Betapapillomavirus HPV 17 through L1, E7, E7 and LCR sequences.

Acta virologica | 2000-01-01 | PMID 29895158

Oliveira L, Santos L, Neves F

Prevalence and genetic features of hepatitis E virus in swine, in Gansu, China.

Acta virologica | 2000-01-01 | PMID 29895161

Zhou J-H, Wang Y-N, Li X-R and 3 more

Phylogenetic relationships of two Ukrainian tomato isolates of potato virus M and genetic variability analysis of its population.

Acta virologica | 2000-01-01 | PMID 29895164

Mishchenko L, Dunich A, Taran O and 3 more

Afatinib with subsequent surgery in stage III NSCLC with EGFR mutation: Lessons learned from two clinical experiences.

Tumori | 2018-12-01 | PMID 29895214

Mazzoni Francesca, Petreni Paolo, Perna Marco and 5 more

Genes: EGFR

Transcriptional Remodeling in Primary Hippocampal Astrocytes from an Alzheimer's Disease Mouse Model.

Current Alzheimer research | 2018-01-01 | PMID 29895250

Ruffinatti F, Tapella L, Gregnanin I and 6 more

Dissection of complicate genetic architecture and breeding perspective of cottonseed traits by genome-wide association study.

BMC genomics | 2018-06-13 | PMID 29895260

Du Xiongming, Liu Shouye, Sun Junling and 19 more

PAPP-A2 deficiency does not exacerbate the phenotype of a mouse model of intrauterine growth restriction.

Reproductive biology and endocrinology : RB&E | 2018-06-12 | PMID 29895300

Christians Julian K, Lennie Kendra I, Huicochea Munoz Maria F and 1 more

Genes: MMP9

GWAS-identified CCR1 and IL10 loci contribute to M1 macrophage-predominant inflammation in Behçet's disease.

Arthritis research & therapy | 2018-06-12 | PMID 29895319

Nakano Hiroto, Kirino Yohei, Takeno Mitsuhiro and 7 more

Genes: CCR1, MIP

27nt-RNAs guide histone variant deposition via 'RNA-induced DNA replication interference' and thus transmit parental genome partitioning in Stylonychia.

Epigenetics & chromatin | 2018-06-12 | PMID 29895326

Postberg Jan, Jönsson Franziska, Weil Patrick Philipp and 3 more

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis.

Neurobiology of aging | 2018-11-01 | PMID 29895397

Narain Priyam, Pandey Ashutosh, Gupta Shruti and 3 more

Genes: DAO, OPTN, SOD1, ANG, ATXN2, ERBB4, SETX, SQSTM1

Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.

Molecular genetics and metabolism | 2018-07-01 | PMID 29895405

Menduti Giovanna, Biamino Elisa, Vittorini Roberta and 11 more

Molecular alterations in acute myeloid leukemia and their clinical and therapeutical implications.

Medicina clinica | 2018-11-09 | PMID 29895422

Infante María Stefania, Piris Miguel Ángel, Hernández-Rivas José Ángel

ddRAD-seq based phylogeographic study of Sargassum thunbergii (Phaeophyceae, Heterokonta) around Japanese coast.

Marine environmental research | 2018-09-01 | PMID 29895505

Kobayashi Honoka, Haino Yuka, Iwasaki Takaya and 3 more

Genes: POP4, POP1

Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease.

Stroke | 2018-07-01 | PMID 29895533

Lee Yi-Chung, Chung Chih-Ping, Chao Nai-Chen and 4 more

Genes: HTRA1, NOTCH3

Introgression of a Block of Genome Under Infinitesimal Selection.

Genetics | 2018-08-01 | PMID 29895560

Sachdeva Himani, Barton Nicholas H

The Mutation-Associated Neoantigen Functional Expansion of Specific T Cells (MANAFEST) Assay: A Sensitive Platform for Monitoring Antitumor Immunity.

Cancer immunology research | 2018-08-01 | PMID 29895573

Danilova Ludmila, Anagnostou Valsamo, Caushi Justina X and 17 more

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.

Diabetes | 2018-09-01 | PMID 29895593

Locke Jonathan M, Saint-Martin Cécile, Laver Thomas W and 8 more

EZ-Root-VIS: A Software Pipeline for the Rapid Analysis and Visual Reconstruction of Root System Architecture.

Plant physiology | 2018-08-01 | PMID 29895611

Shahzad Zaigham, Kellermeier Fabian, Armstrong Emily M and 4 more

"Disruptor" residues in the regulator of G protein signaling (RGS) R12 subfamily attenuate the inactivation of Gα subunits.

Science signaling | 2018-06-12 | PMID 29895615

Asli Ali, Sadiya Isra, Avital-Shacham Meirav and 1 more

Genes: RGS18, RGS10, RGS14

Sequence Variation of Rare Outer Membrane Protein β-Barrel Domains in Clinical Strains Provides Insights into the Evolution of Treponema pallidum subsp. pallidum, the Syphilis Spirochete.

mBio | 2018-06-12 | PMID 29895642

Kumar Sanjiv, Caimano Melissa J, Anand Arvind and 11 more

Genes: OMP

Cerebellar synapse properties and cerebellum-dependent motor and non-motor performance in Dp71-null mice.

Disease models & mechanisms | 2018-07-10 | PMID 29895670

Helleringer Romain, Le Verger Delphine, Li Xia and 8 more

Genes: DMD, PSD

Cancer-mutation network and the number and specificity of driver mutations.

Proceedings of the National Academy of Sciences of the United States of America | 2018-06-26 | PMID 29895694

Iranzo Jaime, Martincorena Iñigo, Koonin Eugene V

Negative feedback via RSK modulates Erk-dependent progression from naïve pluripotency.

EMBO reports | 2018-08-01 | PMID 29895711

Nett Isabelle Re, Mulas Carla, Gatto Laurent and 2 more

Changes in the EV-A71 Genome through Recombination and Spontaneous Mutations: Impact on Virulence.

Viruses | 2018-06-12 | PMID 29895721

Mandary Madiiha Bibi, Poh Chit Laa

Molecular Characterization and Antimicrobial Resistance Pattern of Escherichia coli Recovered from Wastewater Treatment Plants in Eastern Cape South Africa.

International journal of environmental research and public health | 2018-06-12 | PMID 29895735

Igwaran Aboi, Iweriebor Benson Chuks, Okoh Anthony Ifeanyi

Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.

Scientific reports | 2018-06-12 | PMID 29895819

Endo Chihiro, Johnson Todd A, Morino Ryoko and 15 more

Genes: EMX2, ABCC11, AKAP1, BCL2, BNC2, EDAR, GCC2, LIMS1

Immunological mechanisms of human resistance to persistent Mycobacterium tuberculosis infection.

Nature reviews. Immunology | 2018-09-01 | PMID 29895826

Simmons Jason D, Stein Catherine M, Seshadri Chetan and 9 more

Dishevelled has a YAP nuclear export function in a tumor suppressor context-dependent manner.

Nature communications | 2018-06-12 | PMID 29895829

Lee Yoonmi, Kim Nam Hee, Cho Eunae Sandra and 15 more

ZP2 pathogenic variants cause in vitro fertilization failure and female infertility.

Genetics in medicine : official journal of the American College of Medical Genetics | 2019-02-01 | PMID 29895852

Dai Can, Hu Liang, Gong Fei and 10 more

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Genetics in medicine : official journal of the American College of Medical Genetics | 2019-01-01 | PMID 29895855

Truty Rebecca, Paul Joshua, Kennemer Michael and 4 more

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

Genetics in medicine : official journal of the American College of Medical Genetics | 2019-01-01 | PMID 29895856

He Na, Lin Zhi-Jian, Wang Jie and 8 more

Novel phenotype-disease matching tool for rare genetic diseases.

Genetics in medicine : official journal of the American College of Medical Genetics | 2019-02-01 | PMID 29895857

Chen Jing, Xu Huan, Jegga Anil and 3 more

A homozygous FANCM frameshift pathogenic variant causes male infertility.

Genetics in medicine : official journal of the American College of Medical Genetics | 2019-01-01 | PMID 29895858

Yin Hao, Ma Hui, Hussain Sajjad and 26 more

Genes: FANCM

Prevalence of Single and Multiple Natural NS3, NS5A and NS5B Resistance-Associated Substitutions in Hepatitis C Virus Genotypes 1-4 in Italy.

Scientific reports | 2018-06-12 | PMID 29895871

Bertoli Ada, Sorbo Maria Chiara, Aragri Marianna and 31 more

Spatio-temporal relays control layer identity of direction-selective neuron subtypes in Drosophila.

Nature communications | 2018-06-12 | PMID 29895891

Apitz Holger, Salecker Iris

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.

Molecular psychiatry | 2020-04-01 | PMID 29895895

Chaumette Boris, Ferrafiat Vladimir, Ambalavanan Amirthagowri and 9 more

Genes: FXYD6, FXYD1, FXYD2

High genomic diversity of multi-drug resistant wastewater Escherichia coli.

Scientific reports | 2018-06-12 | PMID 29895899

Mahfouz Norhan, Caucci Serena, Achatz Eric and 4 more

Investigating Holocene human population history in North Asia using ancient mitogenomes.

Scientific reports | 2018-06-12 | PMID 29895902

Kılınç Gülşah Merve, Kashuba Natalija, Yaka Reyhan and 20 more

Molecular profiles and tumor mutational burden analysis in Chinese patients with gynecologic cancers.

Scientific reports | 2018-06-12 | PMID 29895933

Wang Min, Fan Wensheng, Ye Mingxia and 11 more

Genes: PTEN, POLE, TSC2

Phenotypic Switching Can Speed up Microbial Evolution.

Scientific reports | 2018-06-12 | PMID 29895935

Tadrowski Andrew C, Evans Martin R, Waclaw Bartlomiej

Reliance upon ancestral mutations is maintained in colorectal cancers that heterogeneously evolve during targeted therapies.

Nature communications | 2018-06-12 | PMID 29895949

Russo Mariangela, Lamba Simona, Lorenzato Annalisa and 14 more

Genes: APC

Heterologous expression of CTP:phosphocholine cytidylyltransferase from Plasmodium falciparum rescues Chinese Hamster Ovary cells deficient in the Kennedy phosphatidylcholine biosynthesis pathway.

Scientific reports | 2018-06-12 | PMID 29895950

Marton Lívia, Hajdú Fanni, Nagy Gergely N and 3 more

Multiple myeloma clonal evolution in homogeneously treated patients.

Leukemia | 2018-12-01 | PMID 29895955

Corre Jill, Cleynen Alice, Robiou du Pont Sébastien and 5 more

Genes: BRAF, DIS3, KRAS, NRAS

UNC-16/JIP3 and UNC-76/FEZ1 limit the density of mitochondria in C. elegans neurons by maintaining the balance of anterograde and retrograde mitochondrial transport.

Scientific reports | 2018-06-12 | PMID 29895958

Sure Guruprasada Reddy, Chatterjee Anusheela, Mishra Nikhil and 5 more

Genes: FEZ1

Persistent Salmonella enterica serovar Typhimurium Infection Increases the Susceptibility of Mice to Develop Intestinal Inflammation.

Frontiers in immunology | 2018-01-01 | PMID 29896196

Schultz Bárbara M, Salazar Geraldyne A, Paduro Carolina A and 8 more

Negative regulation of cationic nanoparticle-induced inflammatory toxicity through the increased production of prostaglandin E2 via mitochondrial DNA-activated Ly6C+ monocytes.

Theranostics | 2018-01-01 | PMID 29896308

Liu Li, Liu Yantong, Xu Bocheng and 20 more

Genes: TLR9

Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.

Current diabetes reports | 2018-06-13 | PMID 29896650

Letourneau Lisa R, Greeley Siri Atma W

Insights into the Phenotypic and Behavioral Effects of Teratogenic Drugs in Caenorhabditis elegans.

Methods in molecular biology (Clifton, N.J.) | 2018-01-01 | PMID 29896695

Marín de Evsikova Caralina

Visualization of Gene Expression Patterns by In Situ Hybridization on Early Stages of Development of Xenopus laevis.

Methods in molecular biology (Clifton, N.J.) | 2018-01-01 | PMID 29896701

El-Hodiri Heithem M, Kelly Lisa E

Analysis of Lethality and Malformations During Zebrafish (Danio rerio) Development.

Methods in molecular biology (Clifton, N.J.) | 2018-01-01 | PMID 29896702

Raghunath Azhwar, Perumal Ekambaram

Geometric Morphometrics as a Tool to Evaluate Teratogenic Effects in Zebrafish (Danio rerio).

Methods in molecular biology (Clifton, N.J.) | 2018-01-01 | PMID 29896704

Perez Kathryn E, King-Heiden Tisha C

Omics in Zebrafish Teratogenesis.

Methods in molecular biology (Clifton, N.J.) | 2018-01-01 | PMID 29896707

Piña Benjamin, Navarro Laia, Barata Carlos and 3 more

Whole Mount In Situ Hybridization and Morphometric Analysis in Rabbit Embryos.

Methods in molecular biology (Clifton, N.J.) | 2018-01-01 | PMID 29896718

Kawamura Yoshinori, Matsumoto Kiyoshi

[Analysis of spinocerebellar ataxia type 31 related mutations among patients from mainland China].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896721

Yang Ke, Zeng Sheng, Liu Zhen and 8 more

[Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896722

Qian Ping, Yang Xiaoling, Xu Xiaojing and 3 more

[Analysis of SMPD1 gene mutations in Chinese patients with Parkinson's disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896723

Song Na, Wang Wei, Chen Chao and 4 more

Genes: SMPD1

[Establishment of a quality control system for HLA allele typing and its key points].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896724

Gao Suqing, Xu Yunping, Nie Dongmei and 2 more

[Analysis of genetic difference between mild cognitive impairment and Alzheimer's disease through genome-wide association study].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896728

Bai Zhouxian, Kong Xiangdong

[Analysis of genomic copy number variations in fetuses with conotruncal defects using single nucleotide polymorphism array].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896729

Wang Jin, Zhao Yan, Jin Hua and 3 more

[Application of suspension array technology for the genetic diagnosis of non-syndromic hearing loss].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896730

He Ling, Feng Defeng, Zhang Liang and 3 more

[Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896732

Luo Jihang, Fang Di, Qiu Wenjuan and 8 more

Genes: ACR

[Study of two pedigrees affected with adult polycystic kidney disease and male infertility resulting from novel mutations of PKD1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896735

Feng Zonggang, Wei Lei, Tan Li

Genes: PKD1, PKD2

[Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in two cases].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896738

Zhu Qiong, Yuan Ke, Wang Chunlin and 3 more

Genes: FOXP3

[Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896739

Zeng Rong, Wang Liwei, Hui Yun and 4 more

Genes: ADAR

[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896741

Jing Feng, Li Haijiang, Yang Dan and 3 more

Genes: CLCN1

[Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896742

Tang Shaohua, Jia Manli, Chen Chong and 5 more

Genes: ARX

[Relationship between GSTM1 and GSTT1 gene polymorphisms and plasma lipid and apolipoprotein levels in Chinese normalipidemic and endogenous hypertriglyceridemic subjects].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896743

Zhu Yue, Guan Linbo, Fan Ping and 4 more

Genes: GSTM1, GSTT1

[Diagnose of a neonate with X-linked thrombocytopenia by next generation sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896746

Gao Min, Kang Lili, Liu Yi and 1 more

[Identification of a homozygous ASS1 mutation in a child with citrullinemia type Ⅰ with high-melting curve method].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896748

Sun Jingjing, Shen Yunlin, Yan Chongbing and 1 more

Genes: ASS1

[Analysis of a neonate with bullous congenital ichthyosiform erythroderma with next generation sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896749

Lyu Yuqiang, Shi Chuankui, Zhang Kaihui and 2 more

Genes: KRT10

[Identification and pedigree analysis of ABO subgroup B303].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896751

Chen Fawen, Xie Haihua, Yang Xiaojun and 3 more

Genes: ABO

[Diagnosis of a case with recurrent pregnancy loss resulted from maternal balanced translocation by chromosomal microarray analysis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2018-06-10 | PMID 29896752

Wang Li, Bai Nan, Liu Lina and 2 more

Identification of HLA-B*15:296 by next-generation sequencing technology in a Chinese Han individual.

HLA | 2018-09-01 | PMID 29896767

Quan Z-R, Zhong X-X, Gao S-Q

Transgenerational inheritance of chronic adolescent stress: Effects of stress response and the amygdala transcriptome.

Genes, brain, and behavior | 2019-09-01 | PMID 29896789

Manners M T, Yohn N L, Lahens N F and 3 more

De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.

Genes, brain, and behavior | 2018-11-01 | PMID 29896790

Li T, Cheng M, Wang J and 5 more

Genes: STXBP1