Hereditary SWI/SNF complex deficiency syndromes.
Seminars in diagnostic pathology | 2018-05-01 | PMID 29397238
Agaimy Abbas, Foulkes William D
Genes: SMARCB1, SMARCA4, SMARCE1
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 7651 of 10600
Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing.
Seminars in diagnostic pathology | 2018-05-01 | PMID 29397239
Spoto Clothaire P E, Gullo Irene, Carneiro Fatima and 2 more
Cataract in a patient with 47,XYY sex chromosome aneuploidy.
Archivos de la Sociedad Espanola de Oftalmologia | 2018-06-01 | PMID 29397244
Medina-Andrade A, Villanueva-Mendoza C, Arenas S and 1 more
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Molecular genetics and metabolism | 2018-03-01 | PMID 29397290
Ahrens-Nicklas Rebecca, Schlotawa Lars, Ballabio Andrea and 15 more
Genes: SUMF1
Natural Killer Cell Education and the Response to Infection and Cancer Therapy: Stay Tuned.
Trends in immunology | 2018-03-01 | PMID 29397297
Boudreau Jeanette E, Hsu Katharine C
Deciphering defective amelogenesis using in vitro culture systems.
Journal of bioscience and bioengineering | 2018-04-01 | PMID 29397320
Arinawati Dian Yosi, Miyoshi Keiko, Tanimura Ayako and 3 more
High frequency of type 2 diabetes and impaired glucose tolerance in Japanese subjects with the angiopoietin-like protein 8 R59W variant.
Journal of clinical lipidology | 2000-01-01 | PMID 29397342
Liu Jianhui, Yagi Kunimasa, Nohara Atsushi and 6 more
Genes: ANGPTL8
Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.
Cell systems | 2018-03-28 | PMID 29397366
Zlatic Stephanie A, Vrailas-Mortimer Alysia, Gokhale Avanti and 11 more
Genes: UCHL1
A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773).
EBioMedicine | 2018-02-01 | PMID 29397368
Meng Weihua, Adams Mark J, Hebert Harry L and 3 more
Genes: CRHR1, LRP1
A genetic approach to evaluation of short stature of undetermined cause.
The lancet. Diabetes & endocrinology | 2018-07-01 | PMID 29397377
Murray Philip G, Clayton Peter E, Chernausek Steven D
Vitamin D deficiency in childhood: old lessons and current challenges.
Journal of pediatric endocrinology & metabolism : JPEM | 2018-03-28 | PMID 29397388
Antonucci Roberto, Locci Cristian, Clemente Maria Grazia and 2 more
Recent studies on cellular and molecular mechanisms in Alzheimer's disease: focus on epigenetic factors and histone deacetylase.
Reviews in the neurosciences | 2018-03-28 | PMID 29397389
Dubey Harikesh, Gulati Kavita, Ray Arunabha
Genes: ABCA7, APOE, BIN1, CLU, PICALM
Absence of the tag polymorphism for the risk haplotype HLA-DR2 for multiple sclerosis in Wixárika subjects from Mexico.
Immunogenetics | 2018-08-01 | PMID 29397401
González-Enríquez G V, Torres-Mendoza B M, Márquez-Pedroza J and 3 more
Characterization of a new GmFAD3A allele in Brazilian CS303TNKCA soybean cultivar.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2018-05-01 | PMID 29397403
Silva Luiz Claudio Costa, Bueno Rafael Delmond, da Matta Loreta Buuda and 7 more
Quasispecies and virus.
European biophysics journal : EBJ | 2018-05-01 | PMID 29397419
Domingo Esteban, Perales Celia
The phosphorylation site T613 in the β-subunit of rat epithelial Na+ channel (ENaC) modulates channel inhibition by Nedd4-2.
Pflugers Archiv : European journal of physiology | 2018-04-01 | PMID 29397423
Krueger Bettina, Yang Limin, Korbmacher Christoph and 1 more
Association between LCE gene polymorphisms and psoriasis vulgaris among Mongolians from Inner Mongolia.
Archives of dermatological research | 2018-05-01 | PMID 29397434
Sun Li, Cao Yuting, He Nagonbilig and 13 more
Somatic NRAS mutation in patient with generalized lymphatic anomaly.
Angiogenesis | 2018-05-01 | PMID 29397482
Manevitz-Mendelson Eugenia, Leichner Gil S, Barel Ortal and 12 more
Genes: GLA, NRAS
Genetic mapping of a novel recessive allele for non-glaucousness in wild diploid wheat Aegilops tauschii: implications for the evolution of common wheat.
Genetica | 2018-04-01 | PMID 29397498
Nishijima Ryo, Tanaka Chisa, Yoshida Kentaro and 1 more
Role of polymorphic XRCC6 (Ku70)/XRCC7 (DNA-PKcs) genes towards susceptibility and prognosis of lung cancer patients undergoing platinum based doublet chemotherapy.
Molecular biology reports | 2018-06-01 | PMID 29397516
Singh Amrita, Singh Navneet, Behera Digambar and 1 more
Genes: XRCC6
An insight to the molecular interactions of the FDA approved HIV PR drugs against L38L↑N↑L PR mutant.
Journal of computer-aided molecular design | 2018-03-01 | PMID 29397520
Sanusi Zainab K, Govender Thavendran, Maguire Glenn E M and 4 more
The Future of Combination Therapies for Peripheral T Cell Lymphoma (PTCL).
Current hematologic malignancy reports | 2018-02-01 | PMID 29397528
Ma Helen, Davarifar Ardy, Amengual Jennifer E
Genes: IDH2, RHOA, TET2
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Cerebellum (London, England) | 2018-08-01 | PMID 29397530
Schirinzi Tommaso, Graziola Federica, Nicita Francesco and 7 more
CYP2C19 and ABCB1 genetic polymorphisms correlate with the recurrence of ischemic cardiovascular adverse events after clopidogrel treatment.
Journal of clinical laboratory analysis | 2018-06-01 | PMID 29397568
Hou Xumin, Han Wenzheng, Gan Qian and 2 more
Genes: HPR, ABCB1
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.
Molecular genetics & genomic medicine | 2018-03-01 | PMID 29397573
Brereton Emily, Fassi Emily, Araujo Gabriel C and 4 more
Genes: DNM1
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
Molecular genetics & genomic medicine | 2018-03-01 | PMID 29397575
Yilmaz Saliha, Uludağ Alkaya Dilek, Kasapçopur Özgür and 8 more
Genes: PRG4
[A comparison of clinical characteristics between 2 pedigrees of multiple endocrine neoplasia type 2A with different RET mutations].
Zhonghua nei ke za zhi | 2018-02-01 | PMID 29397600
Weng Y, Xue S N, Zhang S L and 2 more
Genes: RET
[Clinical features and gene mutation analysis of patients with Niemann-Pick disease type C].
Zhonghua yi xue za zhi | 2018-01-23 | PMID 29397615
Ren S C, Tian Z X, Deng Y X and 4 more
Genes: NPC1
[Current situation and prospect of breast cancer liquid biopsy].
Zhonghua wai ke za zhi [Chinese journal of surgery] | 2018-02-01 | PMID 29397622
Zhou B, Xin L, Xu L and 2 more
Population differentiation between Australian and Chinese Helicoverpa armigera occurs in distinct blocks on the Z-chromosome.
Bulletin of entomological research | 2018-12-01 | PMID 29397798
Song S V, Anderson C, Good R T and 4 more
[Relationship between High-Resolution HLA-A,-B,-DRB1 Alleles and Haplotype Polymorphisms with Myeloid Leukemia of Han People in North China].
Zhongguo shi yan xue ye xue za zhi | 2018-02-01 | PMID 29397815
Qi Jun, Wang Tian-Ju, Chen Li-Ping and 3 more
[Effect of Heterozygosity Loss in HLA Region before Transplantation on HLA Typing in Patients with Leukemia].
Zhongguo shi yan xue ye xue za zhi | 2018-02-01 | PMID 29397819
Zhao Jia-Wei, Wang Ji-Ying, Zhang Yan and 3 more
[Expression of Ki-67 in Adult and Children Acute Lymphoblastic Leukemia and Its Clinical Significance].
Zhongguo shi yan xue ye xue za zhi | 2018-02-01 | PMID 29397821
Chen Hao, Yuan Fang-Fang, Ai Hao and 7 more
[Detection of Novel Antigen MLAA-34 Gene Mutation in Acute Monocytic Leukemia and Its Correlation with Efficacy].
Zhongguo shi yan xue ye xue za zhi | 2018-02-01 | PMID 29397825
Lei Bo, Zhang Wang-Gang, Chen Yin-Xia and 10 more
[Prevalence and Genotype Analysis of Newborn α-Thalassemia in Wuhan Area of China].
Zhongguo shi yan xue ye xue za zhi | 2018-02-01 | PMID 29397847
Cai Wen-Qian, Hu Xi-Jiang, Xiong Qian and 1 more
Genes: SEA
[Variation and Clinical Significance of LNK Gene in Essential Thrombocytosis].
Zhongguo shi yan xue ye xue za zhi | 2018-02-01 | PMID 29397849
Tian Run-Mei, Rong Ying, Wu Liu-Song and 4 more
[Research Progress on Effect of JAK Inhibitors on Myelofibrosis- Review].
Zhongguo shi yan xue ye xue za zhi | 2018-02-01 | PMID 29397859
Liu Jun-Xiu, Chen Wei, Xu Kai-Lin
Genes: JAK2
[Advances in Pathogenesis of Essential Thrombocythemia - Review].
Zhongguo shi yan xue ye xue za zhi | 2018-02-01 | PMID 29397860
Zhou Dian, Chen Wei, Xu Kai-Lin
Genes: CALR, JAK2, MPL
Relation of the Brugada Phenocopy to Hyperkalemia (from the International Registry on Brugada Phenocopy).
The American journal of cardiology | 2018-03-15 | PMID 29397883
Xu Grace, Gottschalk Byron H, Anselm Daniel D and 9 more
General misincorporation frequency: Re-evaluation of the fidelity of DNA polymerases.
Biochemical and biophysical research communications | 2018-02-19 | PMID 29397937
Yang Jie, Li Bianbian, Liu Xiaoying and 6 more
Identification of biological traits associated with differences in residual energy intake among lactating Holstein cows.
Journal of dairy science | 2018-05-01 | PMID 29398023
Fischer A, Delagarde R, Faverdin P
Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.
Ophthalmology | 2018-07-01 | PMID 29398083
Lorés-Motta Laura, Paun Constantin C, Corominas Jordi and 9 more
Genes: CFH, CFHR4
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
Ophthalmology | 2018-06-01 | PMID 29398085
Sheck Leo, Davies Wayne I L, Moradi Phillip and 6 more
Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants.
Neurobiology of aging | 2018-06-01 | PMID 29398119
Razquin Cristina, Ortega-Cubero Sara, Rojo-Bustamante Estefania and 14 more
Screening of GLE1 mutations in Chinese amyotrophic lateral sclerosis patients.
Neurobiology of aging | 2018-06-01 | PMID 29398120
Zhang Kang, Liu Qing, Shen Dongchao and 8 more
Genes: GLE1
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis.
Neurobiology of aging | 2018-04-01 | PMID 29398122
Tohnai Genki, Nakamura Ryoichi, Sone Jun and 34 more
Genes: TBK1, TANK
Association study of essential tremor genetic loci in Parkinson's disease.
Neurobiology of aging | 2018-06-01 | PMID 29398123
Ross Jay P, Mohtashami Sadaf, Leveille Etienne and 8 more
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Kidney international | 2018-04-01 | PMID 29398133
Ashton Emma J, Legrand Anne, Benoit Valerie and 17 more
Kidney disease in the setting of HIV infection: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Kidney international | 2018-03-01 | PMID 29398134
Swanepoel Charles R, Atta Mohamed G, D'Agati Vivette D and 10 more
Vestibular symptoms as the presenting feature of progressive supranuclear palsy.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia | 2018-04-01 | PMID 29398194
Haggstrom Lucy, Brew Bruce, Sutton Ian and 1 more
Sequence-based HLA-A, B, C, DP, DQ, and DR typing of 159 individuals from the Worcester region of the Western Cape province of South Africa.
Human immunology | 2018-03-01 | PMID 29398200
Grifoni Alba, Sidney John, Carpenter Chelsea and 5 more
T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus.
Journal of autoimmunity | 2018-06-01 | PMID 29398253
Houtman Miranda, Shchetynsky Klementy, Chemin Karine and 9 more
Genes: PTPN2, ZEB1
Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.
Molecular genetics and metabolism | 2018-03-01 | PMID 29398271
Nafisinia Michael, Menezes Minal Juliet, Gold Wendy Anne and 5 more
Genes: NOX4
Development of a high-growth enterovirus 71 vaccine candidate inducing cross-reactive neutralizing antibody responses.
Vaccine | 2018-02-21 | PMID 29398272
Chia Min-Yuan, Chung Wan-Yu, Wang Chun-Hsiung and 2 more
Genotype and other determinants of respiratory function in myotonic dystrophy type 1.
Neuromuscular disorders : NMD | 2018-03-01 | PMID 29398295
Boussaïd Ghilas, Wahbi Karim, Laforet Pascal and 7 more
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Neuromuscular disorders : NMD | 2018-04-01 | PMID 29398297
Bacalhau Mafalda, Simões Marta, Rocha Mariana C and 15 more
Genes: UCN
Origins of the current outbreak of multidrug-resistant malaria in southeast Asia: a retrospective genetic study.
The Lancet. Infectious diseases | 2018-03-01 | PMID 29398391
Amato Roberto, Pearson Richard D, Almagro-Garcia Jacob and 9 more
Optimization of permeability in a series of pyrrolotriazine inhibitors of IRAK4.
Bioorganic & medicinal chemistry | 2018-02-15 | PMID 29398441
Degorce Sébastien L, Anjum Rana, Dillman Keith S and 11 more
Genes: IRAK4, BTK
RHOA G17V Induces T Follicular Helper Cell Specification and Promotes Lymphomagenesis.
Cancer cell | 2018-02-12 | PMID 29398449
Cortes Jose R, Ambesi-Impiombato Alberto, Couronné Lucile and 11 more
Genes: RHOA, ICOS, CD4, TET2
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology.
The Journal of molecular diagnostics : JMD | 2018-03-01 | PMID 29398453
Lindeman Neal I, Cagle Philip T, Aisner Dara L and 19 more
Genes: EGFR, ROS1, ALK, BRAF, ERBB2, KRAS, MET, RET
Genomic Heterogeneity Within Individual Prostate Cancer Foci Impacts Predictive Biomarkers of Targeted Therapy.
European urology focus | 2019-05-01 | PMID 29398457
VanderWeele David J, Finney Richard, Katayama Kotoe and 18 more
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.
Molecular therapy : the journal of the American Society of Gene Therapy | 2018-03-07 | PMID 29398487
Majtan Tomas, Jones Wendell, Krijt Jakub and 6 more
Genes: CBS
Anti-H antibody of unusually high titer showing variable reactivities against group A red cells and broad thermal amplitude in a patient with lymphoma.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis | 2018-02-01 | PMID 29398507
Choi Seung Jun, Kim Hoon Seok, Lee Jaewoong and 2 more
Genes: ABO
HLA analysis of Mexican candidates for bone marrow transplantation and probability of finding compatible related donors.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis | 2018-02-01 | PMID 29398509
Bello-López J Manuel, Cisneros Carlos Bonilla, Martínez-Albarrán Angel
[Klinefelter syndrome and cardiovascular risk].
Hipertension y riesgo vascular | 2000-01-01 | PMID 29398514
Yamaguchi A, Knoblovits P
The Methylenetetrahydrofolate Reductase C677T (rs1801133) and Apolipoprotein A5-1131T>C (rs662799) Polymorphisms, and Anemia Are Independent Risk Factors for Ischemic Stroke.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association | 2018-05-01 | PMID 29398535
Escobedo Jorge, Paz-Aragón Emmanuel, Vega-Rodríguez Luz Helena and 7 more
Genes: APOA5, MTHFR, DDAH1
Anaplasma spp. in North Africa: A review on molecular epidemiology, associated risk factors and genetic characteristics.
Ticks and tick-borne diseases | 2018-03-01 | PMID 29398602
Ben Said Mourad, Belkahia Hanène, Messadi Lilia
Hypothalamic miR-219 regulates individual metabolic differences in response to diet-induced weight cycling.
Molecular metabolism | 2018-03-01 | PMID 29398616
Schroeder Mariana, Drori Yonat, Ben-Efraim Yair J and 1 more
Responses of rice (Oryza sativa L.) genotypes to different levels of submergence.
Comptes rendus biologies | 2018-02-01 | PMID 29398646
Afrin Wazifa, Nafis Mahmudul Hassan, Hossain Muhammed Ali and 2 more
Genes: SUB1
Prenatal Exposure to Phthalates and the Development of Eczema Phenotypes in Male Children: Results from the EDEN Mother-Child Cohort Study.
Environmental health perspectives | 2018-02-02 | PMID 29398652
Soomro Munawar Hussain, Baiz Nour, Philippat Claire and 7 more
Genes: DBP
Associations between Methylated Metabolites of Arsenic and Selenium in Urine of Pregnant Bangladeshi Women and Interactions between the Main Genes Involved.
Environmental health perspectives | 2018-02-01 | PMID 29398653
Skröder Helena, Engström Karin, Kuehnelt Doris and 6 more
Genes: INMT
The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy.
Journal of atherosclerosis and thrombosis | 2018-08-01 | PMID 29398675
Wu Hongyan, Yang Yuan, Hu Zhangxue
Genes: APOE
Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing.
Circulation journal : official journal of the Japanese Circulation Society | 2018-03-23 | PMID 29398688
Teramoto Ryota, Fujino Noboru, Konno Tetsuo and 8 more
A Missense Mutation in the NSF Gene Causes Abnormal Golgi Morphology in Arabidopsis thaliana.
Cell structure and function | 2018-03-27 | PMID 29398689
Tanabashi Sayuri, Shoda Keiko, Saito Chieko and 4 more
Genes: NSF
Paediatric genomics: diagnosing rare disease in children.
Nature reviews. Genetics | 2018-05-01 | PMID 29398702
Wright Caroline F, FitzPatrick David R, Firth Helen V
Tandem repeats mediating genetic plasticity in health and disease.
Nature reviews. Genetics | 2018-05-01 | PMID 29398703
Hannan Anthony J
Influence of NUDT15 variants on hematological pictures of patients with inflammatory bowel disease treated with thiopurines.
World journal of gastroenterology | 2018-01-28 | PMID 29398872
Kojima Yuichiro, Hirotsu Yosuke, Omata Wataru and 9 more
Genes: NUDT15, CRP, TPMT
Translating genetic and preclinical findings into autism therapies.
Dialogues in clinical neuroscience | 2017-12-01 | PMID 29398929
Chahrour Maria, Kleiman Robin J, Manzini M Chiara
Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.
Dialogues in clinical neuroscience | 2017-12-01 | PMID 29398931
Fernandez Bridget A, Scherer Stephen W
Genes: FMR1
Pharmacogenetics of post-transplant diabetes mellitus in children with renal transplantation treated with tacrolimus.
Pediatric nephrology (Berlin, Germany) | 2018-06-01 | PMID 29399716
Lancia Pauline, Adam de Beaumais Tiphaine, Elie Valéry and 9 more
Genes: ABCB1, POR, VDR
Association of IL-28B, TBX21 gene polymorphisms and predictors of virological response for chronic hepatitis C.
Archives of virology | 2018-05-01 | PMID 29399747
Zhu Dan Yan, Deng Xiao Zhao, Zhu Yu Meng and 7 more
Genes: TBX21
Acute hepatitis E in India appears to be caused exclusively by genotype 1 hepatitis E virus.
Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology | 2018-01-01 | PMID 29399748
Gupta Neha, Sarangi Aditya N, Dadhich Sunil and 4 more
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.
Clinical genetics | 2018-06-01 | PMID 29399786
Angius A, Cossu S, Uva P and 10 more
Genes: NALCN, UNC79
Constraining uncertainty in the timescale of angiosperm evolution and the veracity of a Cretaceous Terrestrial Revolution.
The New phytologist | 2018-04-01 | PMID 29399804
Barba-Montoya Jose, Dos Reis Mario, Schneider Harald and 2 more
The differential expression of the blood group P1 -A4GALT and P2 -A4GALT alleles is stimulated by the transcription factor early growth response 1.
Transfusion | 2018-04-01 | PMID 29399809
Yeh Chih-Chun, Chang Ching-Jin, Twu Yuh-Ching and 7 more
Phase 1/2 study assessing the safety and efficacy of dabrafenib and trametinib combination therapy in Japanese patients with BRAF V600 mutation-positive advanced cutaneous melanoma.
The Journal of dermatology | 2018-04-01 | PMID 29399853
Yamazaki Naoya, Tsutsumida Arata, Takahashi Akira and 7 more
Genes: BRAF
A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.
American journal of medical genetics. Part A | 2018-03-01 | PMID 29399948
Nembhard Wendy N, Tang Xinyu, Li Jingyun and 4 more
Genes: GLRX, GSR
Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.
Congenital heart disease | 2018-05-01 | PMID 29399970
Sabbaghian Nelly, Digilio Maria C, Blue Gillian M and 3 more
Genes: DICER1
Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement.
Journal of thrombosis and haemostasis : JTH | 2018-04-01 | PMID 29399993
Spena S, Garagiola I, Cannavò A and 4 more
Correlation analysis of mesenchymal-epithelial transition factor protein and human epidermal growth receptor 2 protein expression in 1479 cases of lung adenocarcinoma in China.
Thoracic cancer | 2018-04-01 | PMID 29400000
Yang Lin, Che Yiqun, Guo Lei and 5 more
Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11.
Acta oto-laryngologica | 2018-05-01 | PMID 29400105
Li Lina, Yuan Hu, Wang Hongyang and 8 more
Evolution of the neurochemical profiles in the G93A-SOD1 mouse model of amyotrophic lateral sclerosis.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism | 2019-07-01 | PMID 29400109
Lei Hongxia, Dirren Elisabeth, Poitry-Yamate Carole and 3 more
Genes: SOD1
Clinical correlates of longitudinal MRI changes in CADASIL.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism | 2019-07-01 | PMID 29400120
Ling Yifeng, De Guio François, Jouvent Eric and 6 more
Genes: NOTCH3
"Guys Don't Have Breasts": The Lived Experience of Men Who Have BRCA Gene Mutations and Are at Risk for Male Breast Cancer.
American journal of men's health | 2018-07-01 | PMID 29400121
Skop Michelle, Lorentz Justin, Jassi Mobin and 2 more
Genes: BRCA1, BRCA2
Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.
The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry | 2018-10-01 | PMID 29400127
Balestrino Roberta, Schapira Anthony H V
Trypanosoma cruzi: death phenotypes induced by ortho-naphthoquinone substrates of the aldo-keto reductase (TcAKR). Role of this enzyme in the mechanism of action of β-lapachone.
Parasitology | 2018-08-01 | PMID 29400267
Garavaglia Patricia Andrea, Rubio María Fernanda, Laverrière Marc and 4 more
Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region.
Balkan medical journal | 2018-01-20 | PMID 29400309
Dimishkovska Marija, Kotori Vjosa Mulliqi, Gucev Zoran and 3 more
Genes: FANCA, FAAP20, FANCC, FANCD2, FANCG
Polymorphism of the DNA methyltransferase 1 gene is associated with the susceptibility to essential hypertension in male.
Clinical and experimental hypertension (New York, N.Y. : 1993) | 2018-01-01 | PMID 29400588
Chen Hui-Ling, Li Zhan-Ming, Liu Jin-Feng and 5 more
Genes: DNMT1
The pharmacoepigenomics informatics pipeline defines a pathway of novel and known warfarin pharmacogenomics variants.
Pharmacogenomics | 2018-04-01 | PMID 29400612
Allyn-Feuer Ari, Ade Alex, Luzum Jasmine A and 2 more
Synergistic Protective Effects of Mitochondrial Division Inhibitor 1 and Mitochondria-Targeted Small Peptide SS31 in Alzheimer's Disease.
Journal of Alzheimer's disease : JAD | 2018-01-01 | PMID 29400667
Reddy P Hemachandra, Manczak Maria, Yin XiangLing and 1 more