Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature communications | 2018-02-15 | PMID 29449575
Schrader A, Crispatzu G, Oberbeck S and 33 more
Genes: ATM
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 7668 of 10600
Analysis of Epistasis among QTLs on Heading Date based on Single Segment Substitution Lines in Rice.
Scientific reports | 2018-02-15 | PMID 29449579
Yang Zifeng, Jin Lingling, Zhu Haitao and 3 more
Familial Risks Between Urolithiasis and Cancer.
Scientific reports | 2018-02-15 | PMID 29449591
Hemminki Kari, Hemminki Otto, Försti Asta and 3 more
Rapid identification of a stripe rust resistant gene in a space-induced wheat mutant using specific locus amplified fragment (SLAF) sequencing.
Scientific reports | 2018-02-15 | PMID 29449594
Yin Jun-Liang, Fang Zheng-Wu, Sun Cai and 6 more
Codon based co-occurrence network motifs in human mitochondria.
Scientific reports | 2018-02-15 | PMID 29449618
Shinde Pramod, Sarkar Camellia, Jalan Sarika
A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.
Scientific reports | 2018-02-15 | PMID 29449639
Wu Jie, Mizusawa Yuka, Ohno Seiko and 11 more
Genes: KCNQ1
The pro-inflammatory phenotype of the human non-classical monocyte subset is attributed to senescence.
Cell death & disease | 2018-02-15 | PMID 29449647
Ong Siew-Min, Hadadi Eva, Dang Truong-Minh and 5 more
Genes: TNF
CFTR mutation enhances Dishevelled degradation and results in impairment of Wnt-dependent hematopoiesis.
Cell death & disease | 2018-02-15 | PMID 29449653
Sun Huaqin, Wang Yan, Zhang Jieting and 12 more
Genes: CFTR, DVL2
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.
Scientific reports | 2018-02-15 | PMID 29449654
Gharahkhani Puya, Burdon Kathryn P, Cooke Bailey Jessica N and 36 more
Genes: CRYGS, LMO7, MYOF
Assessment of interaction between maternal polycyclic aromatic hydrocarbons exposure and genetic polymorphisms on the risk of congenital heart diseases.
Scientific reports | 2018-02-15 | PMID 29449662
Li Nana, Mu Yi, Liu Zhen and 7 more
Genes: AHR
TERT promoter mutation in adult granulosa cell tumor of the ovary.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2018-07-01 | PMID 29449679
Pilsworth Jessica A, Cochrane Dawn R, Xia Zhouchunyang and 23 more
Genes: TERT
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
European journal of human genetics : EJHG | 2018-04-01 | PMID 29449720
Bertoli-Avella Aida M, Garcia-Aznar Jose M, Brandau Oliver and 13 more
Genes: GTPBP2
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
European journal of human genetics : EJHG | 2018-04-01 | PMID 29449721
JanssensdeVarebeke Sebastien P F, Van Camp Guy, Peeters Nils and 7 more
Genes: COCH
Langerhans Cells: Sensing the Environment in Health and Disease.
Frontiers in immunology | 2018-01-01 | PMID 29449841
Deckers Julie, Hammad Hamida, Hoste Esther
Pemphigus-A Disease of Desmosome Dysfunction Caused by Multiple Mechanisms.
Frontiers in immunology | 2018-01-01 | PMID 29449846
Spindler Volker, Waschke Jens
Genes: EGFR
CD44v6 increases gastric cancer malignant phenotype by modulating adipose stromal cell-mediated ECM remodeling.
Integrative biology : quantitative biosciences from nano to macro | 2018-03-01 | PMID 29450424
Lourenço Bianca N, Springer Nora L, Ferreira Daniel and 3 more
The Mechanical Contribution of Vimentin to Cellular Stress Generation.
Journal of biomechanical engineering | 2018-06-01 | PMID 29450503
van Loosdregt Inge A E W, Weissenberger Giulia, van Maris Marc P F H L and 4 more
Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis.
Investigative ophthalmology & visual science | 2018-02-01 | PMID 29450543
Minegishi Yuriko, Nakaya Naoki, Tomarev Stanislav I
Genes: CCT2
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Diabetologia | 2018-05-01 | PMID 29450569
Habeb Abdelhadi M, Flanagan Sarah E, Zulali Mohamed A and 14 more
The host control of a clinical isolate strain of P. aeruginosa infection is independent of Nod-1 but depends on MyD88.
Inflammation research : official journal of the European Histamine Research Society ... [et al.] | 2018-05-01 | PMID 29450586
Sônego Fabiane, Castanheira Fernanda V S, Horta Catarina V and 5 more
Prevalence, genotypes, and risk factors of Enterocytozoon bieneusi in Asiatic black bear (Ursus thibetanus) in Yunnan Province, Southwestern China.
Parasitology research | 2018-04-01 | PMID 29450634
Wu Jie, Han Jian-Qiang, Shi Lian-Qin and 5 more
Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations.
Annals of hematology | 2018-06-01 | PMID 29450643
Pezeshkpoor Behnaz, Czogalla Katrin J, Caspers Michael and 7 more
Genes: OAT
Genetic variation and selection of MHC class I loci differ in two congeneric frogs.
Genetica | 2018-04-01 | PMID 29450668
Kiemnec-Tyburczy Karen M, Tracy Karen E, Lips Karen R and 1 more
Association of TERT-CLPTM1L and 8q24 Common Genetic Variants with Gallbladder Cancer Susceptibility and Prognosis in North Indian Population.
Biochemical genetics | 2018-08-01 | PMID 29450669
Yadav Saurabh, Chandra Abhijit, Kumar Ashok and 1 more
Genes: TERT
Could IVIM and ADC help in predicting the KRAS status in patients with rectal cancer?
European radiology | 2018-07-01 | PMID 29450716
Xu Yanyan, Xu Qiaoyu, Sun Hongliang and 3 more
Genes: KRAS
Clinical Management of Women with Monogenic Diabetes During Pregnancy.
Current diabetes reports | 2018-02-15 | PMID 29450745
Dickens Laura T, Naylor Rochelle N
Genes: GCK
Gene expression and population polymorphism of maize Iranian mosaic virus in Zea mays, and intracellular localization and interactions of viral N, P, and M proteins in Nicotiana benthamiana.
Virus genes | 2018-04-01 | PMID 29450759
Ghorbani Abozar, Izadpanah Keramatollah, Dietzgen Ralf G
CC398 Staphylococcus aureus subpopulations in Belgian patients.
European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology | 2018-05-01 | PMID 29450768
Argudín M Angeles, Deplano A, Vandendriessche S and 4 more
Modulatory role of GSTT1 and GSTM1 in Punjabi agricultural workers exposed to pesticides.
Environmental science and pollution research international | 2018-04-01 | PMID 29450776
Ahluwalia Meenakshi, Kaur Anupam
Genes: GSTM1, GSTT1
The role of the alternative pathway of complement activation in glomerular diseases.
Clinical and experimental medicine | 2018-08-01 | PMID 29450785
Łukawska Emilia, Polcyn-Adamczak Magdalena, Niemir Zofia I
Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.
Indian journal of pediatrics | 2018-05-01 | PMID 29450819
Setia Nitika, Saxena Renu, Sawhney J P S and 1 more
Genes: CAD, LDLR
Escherichia coli isolates from femoral bone marrow of broilers exhibit diverse pheno- and genotypic characteristics that do not correlate with macroscopic lesions of bacterial chondronecrosis with osteomyelitis.
Avian pathology : journal of the W.V.P.A | 2018-06-01 | PMID 29451003
Gaußmann Barbara, Hess Claudia, Grafl Beatrice and 5 more
The brigatinib experience: a new generation of therapy for ALK-positive non-small-cell lung cancer.
Future oncology (London, England) | 2018-08-01 | PMID 29451020
Amanam Idoroenyi, Gupta Rohan, Mambetsariev Isa and 1 more
Genes: ALK
Inactivation gating of Kv7.1 channels does not involve concerted cooperative subunit interactions.
Channels (Austin, Tex.) | 2018-01-01 | PMID 29451064
Meisel Eshcar, Tobelaim William, Dvir Meidan and 3 more
Study of changes in lipid profile and insulin resistance in Egyptian patients with chronic hepatitis C genotype 4 in the era of DAAs.
The Libyan journal of medicine | 2018-12-01 | PMID 29451090
El Sagheer Ghada, Soliman Elwy, Ahmad Asmaa and 1 more
The association between preaxial polydactyly and radial longitudinal deficiency in syndromic cases: a report on nine families.
The Journal of hand surgery, European volume | 2018-09-01 | PMID 29451098
Al-Qattan Mohammad M
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
Chinese medical journal | 2018-02-20 | PMID 29451150
Liu Hua-Xu, Pu Chuan-Qiang, Shi Qiang and 2 more
Genes: GAA
Host genetic factors in predicting response status in chronic hepatitis B patients discontinuing nucleos(t)ide analogs.
Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association | 2000-01-01 | PMID 29451182
Li Tao, Liu Feng, Zhang Lixin and 4 more
Antibodies to human neutrophil antigen HNA-3b implicated in cases of neonatal alloimmune neutropenia.
Transfusion | 2018-05-01 | PMID 29451309
Lopes Larissa Barbosa, Abbas Samira Ali, Moritz Elyse and 4 more
Impaired phloem loading in zmsweet13a,b,c sucrose transporter triple knock-out mutants in Zea mays.
The New phytologist | 2018-04-01 | PMID 29451311
Bezrutczyk Margaret, Hartwig Thomas, Horschman Marc and 5 more
YODA MAP3K kinase regulates plant immune responses conferring broad-spectrum disease resistance.
The New phytologist | 2018-04-01 | PMID 29451312
Sopeña-Torres Sara, Jordá Lucía, Sánchez-Rodríguez Clara and 18 more
A rare case of ectopic papillary thyroid carcinoma transformed into squamous cell carcinoma.
Pathology international | 2018-04-01 | PMID 29451347
Yasuoka Hironao, Nakamura Yasushi, Yoshida Ken-Ichi and 5 more
Genes: BRAF
Three novel HLA alleles discovered in Koreans, HLA-A*26:118, DQB1*02:65 and DPB1*05:01:07.
HLA | 2018-04-01 | PMID 29451370
Park B G, Kim S-K, Im J and 2 more
[Prevalence and phylogenetic analysis of Chlamydia trachomatis in a population of women in Posadas, Misiones].
Revista espanola de quimioterapia : publicacion oficial de la Sociedad Espanola de Quimioterapia | 2018-02-01 | PMID 29451375
Jordá G B, Hanke S E, Ramos-Rincón J M and 4 more
Single Nucleotide Polymorphisms in Key One-Carbon Metabolism Genes and Their Association with Blood Folate and Homocysteine Levels in a Chinese Population in Yunnan.
Genetic testing and molecular biomarkers | 2018-03-01 | PMID 29451408
Ni Juan, Liu Yaoxian, Zhou Tao and 2 more
Genes: MTHFR, CBS, OCM, MTRR
Replication of Type 2 diabetes-associated variants in a Saudi Arabian population.
Physiological genomics | 2018-04-01 | PMID 29451423
Li-Gao Ruifang, Wakil Salma M, Meyer Brian F and 2 more
Genes: CRY2, ZFAND3
Populations of Phytophthora rubi Show Little Differentiation and High Rates of Migration Among States in the Western United States.
Molecular plant-microbe interactions : MPMI | 2018-06-01 | PMID 29451433
Tabima Javier F, Coffey Michael D, Zazada Inga A and 1 more
[Uveal melanoma, a model disease for splicing alterations and oncogenesis].
Medecine sciences : M/S | 2018-02-01 | PMID 29451486
Alsafadi Samar, Mobuchon Lenha, Rodrigues Manuel and 1 more
Genes: BAP1
The Association of Vitamin D Levels and the Frailty Phenotype Among Non-geriatric Dialysis Patients: A Cross-sectional Study.
Clinics (Sao Paulo, Brazil) | 2018-01-01 | PMID 29451618
Demircioglu Demet Tekdos
Association between the RAGE (receptor for advanced glycation end-products) -374T/A gene polymorphism and diabetic retinopathy in T2DM.
Revista da Associacao Medica Brasileira (1992) | 2017-11-01 | PMID 29451661
Tao Dan, Mai Xuancheng, Zhang Tiesong and 1 more
Genes: VIP
Multiple SNPs Detection Based on Lateral Flow Assay for Phenylketonuria Diagnostic.
Analytical chemistry | 2018-03-06 | PMID 29451781
Liu Xiaonan, Zhang Chao, Liu Kewu and 8 more
Genes: PAH
Overexpression of heart-specific small subunit of myosin light chain phosphatase results in heart failure and conduction disturbance.
American journal of physiology. Heart and circulatory physiology | 2018-06-01 | PMID 29451818
Arimura Takuro, Muchir Antoine, Kuwahara Masayoshi and 10 more
The HCM-linked W792R mutation in cardiac myosin-binding protein C reduces C6 FnIII domain stability.
American journal of physiology. Heart and circulatory physiology | 2018-06-01 | PMID 29451820
Smelter Dan F, de Lange Willem J, Cai Wenxuan and 2 more
In silico analysis of antibiotic-induced Clostridium difficile infection: Remediation techniques and biological adaptations.
PLoS computational biology | 2018-02-01 | PMID 29451873
Jones Eric W, Carlson Jean M
Selective identification of somatic mutations in pancreatic cancer cells through a combination of next-generation sequencing of plasma DNA using molecular barcodes and a bioinformatic variant filter.
PloS one | 2018-01-01 | PMID 29451897
Kukita Yoji, Ohkawa Kazuyoshi, Takada Ryoji and 3 more
Expression of cell cycle regulators and frequency of TP53 mutations in high risk gastrointestinal stromal tumors prior to adjuvant imatinib treatment.
PloS one | 2018-01-01 | PMID 29451912
Ihle Michaela Angelika, Huss Sebastian, Jeske Wiebke and 10 more
Genes: CDK4, MDM2, KIT, PDGFRA
Synchronic historical patterns of species diversification in seasonal aplocheiloid killifishes of the semi-arid Brazilian Caatinga.
PloS one | 2018-01-01 | PMID 29451915
Costa Wilson J E M, Amorim Pedro F, Mattos José Leonardo O
First experience in Switzerland in Phe508del homozygous cystic fibrosis patients with end-stage pulmonary disease enrolled in a lumacaftor-ivacaftor therapy trial - preliminary results.
Swiss medical weekly | 2018-01-01 | PMID 29451946
Murer Christian, Huber Lars Christian, Kurowski Thomas and 4 more
Genes: LUM, CFTR
Using quantitative tissue phenotype to assess the margins of surgical samples from a pan-Canadian surgery study.
Head & neck | 2018-06-01 | PMID 29451953
Guillaud Martial, MacAulay Calum E, Berean Kenneth W and 8 more
Genes: NPS
High frequency of metronidazole and clarithromycin-resistant Helicobacter pylori in formalin-fixed, paraffin-embedded gastric biopsies.
British journal of biomedical science | 2018-04-01 | PMID 29452048
Pourakbari B, Mahmoudi S, Parhiz J and 3 more
Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk.
The Journal of investigative dermatology | 2018-07-01 | PMID 29452120
Sordillo Joanne E, Kraft Peter, Wu Ann Chen and 1 more
Some properties of the conditioned reconstructed process with Bernoulli sampling.
Theoretical population biology | 2018-07-01 | PMID 29452133
Wiuf Carsten
Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells.
Journal of molecular and cellular cardiology | 2018-04-01 | PMID 29452156
Zhan Yongkun, Sun Xiaolei, Li Bin and 12 more
Genes: PRKAG2
Hypertrophic cardiomyopathy mutation R58Q in the myosin regulatory light chain perturbs thick filament-based regulation in cardiac muscle.
Journal of molecular and cellular cardiology | 2018-04-01 | PMID 29452157
Kampourakis Thomas, Ponnam Saraswathi, Irving Malcolm
Proposal for a new subtype of the zoonotic genotype 3 Hepatitis E virus: HEV-3l.
Virus research | 2018-03-15 | PMID 29452164
De Sabato Luca, Lemey Philippe, Vrancken Bram and 4 more
Massively parallel C. elegans tracking provides multi-dimensional fingerprints for phenotypic discovery.
Journal of neuroscience methods | 2018-08-01 | PMID 29452179
Perni Michele, Challa Pavan K, Kirkegaard Julius B and 15 more
A BACH2 Gene Variant Is Associated with Postoperative Recurrence of Crohn's Disease.
Journal of the American College of Surgeons | 2018-05-01 | PMID 29452228
Laffin Michael R, Fedorak Richard N, Wine Eytan and 2 more
Genes: BACH2, IFNGR2, JAK2, SMAD3
The association of 22 Y chromosome short tandem repeat loci with initiative-aggressive behavior.
Gene | 2018-05-15 | PMID 29452231
Yang Chun, Ba Huajie, Zhang Wei and 5 more
Exploring the deleterious SNPs in XRCC4 gene using computational approach and studying their association with breast cancer in the population of West India.
Gene | 2018-05-20 | PMID 29452234
Singh Preety K, Mistry Kinnari N, Chiramana Haritha and 2 more
Genes: XRCC4
Human adipose tissue-derived stromal cells in combination with exogenous stimuli facilitate three-dimensional network formation of human endothelial cells derived from various sources.
Vascular pharmacology | 2018-07-01 | PMID 29452238
Manikowski Dominique, Andrée Birgit, Samper Esther and 6 more
Prevalence, risk factors and genetic characterization of Toxoplasma gondii in sick pigs and stray cats in Jiangsu Province, eastern China.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2018-06-01 | PMID 29452292
Hou Zhao-Feng, Su Shi-Jie, Liu Dan-Dan and 7 more
Vitamin D pathway genetic variants are able to influence sofosbuvir and its main metabolite pharmacokinetics in HCV mono-infected patients.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2018-06-01 | PMID 29452294
Cusato Jessica, De Nicolò Amedeo, Boglione Lucio and 9 more
Genes: VDR
Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohorts.
Joint bone spine | 2018-12-01 | PMID 29452306
Cherqaoui Bilade, Rossi-Semerano Linda, Georgin-Lavialle Sophie and 6 more
Genes: MEFV
Phylogenetic relationships and cryptic species diversity in the Brazilian egg-brooding tree frog, genus Fritziana Mello-Leitão 1937 (Anura: Hemiphractidae).
Molecular phylogenetics and evolution | 2018-06-01 | PMID 29452311
Walker Marina, Lyra Mariana L, Haddad Célio F B
Genes: RAG1
Convergent Amino Acid Signatures in Polyphyletic Campylobacter jejuni Subpopulations Suggest Human Niche Tropism.
Genome biology and evolution | 2018-03-01 | PMID 29452359
Méric Guillaume, McNally Alan, Pessia Alberto and 6 more
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
Glycobiology | 2018-05-01 | PMID 29452367
Takeuchi Hideyuki, Wong Derek, Schneider Michael and 7 more
Genes: POFUT1, EGF
Simulated ablation for detection of cells impacting paracrine signalling in histology analysis.
Mathematical medicine and biology : a journal of the IMA | 2019-03-14 | PMID 29452382
Taylor-King Jake P, Baratchart Etienne, Dhawan Andrew and 6 more
pBRIT: gene prioritization by correlating functional and phenotypic annotations through integrative data fusion.
Bioinformatics (Oxford, England) | 2018-07-01 | PMID 29452392
Kumar Ajay Anand, Van Laer Lut, Alaerts Maaike and 5 more
Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.
Human molecular genetics | 2018-04-15 | PMID 29452408
Shiga Yukihiro, Akiyama Masato, Nishiguchi Koji M and 64 more
Genes: HMGA2, LOXL1, ABCA1, AFAP1, LHPP, MEIS2, SIX6
Temozolomide-associated hypermutation in gliomas.
Neuro-oncology | 2018-09-03 | PMID 29452419
Choi Serah, Yu Yao, Grimmer Matthew R and 3 more
Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.
The Journal of thoracic and cardiovascular surgery | 2018-03-01 | PMID 29452463
Kim Daniel Seung, Li Yatong K, Kim Jerry H and 12 more
Genes: MBL2
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.
BMC pediatrics | 2018-02-16 | PMID 29452578
Hei Mingyan, Gao Xiangyu, Wu Lingqian
Genes: NIPBL, SMC3
Insights into an Ancient Atypical Kinase Essential for Biosynthesis of Coenzyme Q.
Cell chemical biology | 2018-02-15 | PMID 29452608
Clarke Catherine F
PMCA2 pump mutations and hereditary deafness.
Neuroscience letters | 2018-01-10 | PMID 29452611
Bortolozzi Mario, Mammano Fabio
Genes: MET
Genetic diversity and structure of Rhizobium leguminosarum populations associated with clover plants are influenced by local environmental variables.
Systematic and applied microbiology | 2018-05-01 | PMID 29452714
Stefan Andrei, Van Cauwenberghe Jannick, Rosu Craita M and 4 more
Base of tongue cancer-is it tongue cancer located at the base of the tongue, or is it a type of lingual tonsil cancer? The perspective from a genomic analysis.
International journal of oral and maxillofacial surgery | 2018-07-01 | PMID 29452725
Kim K, Choi K Y, Kim J H and 3 more
Knockout of human muscle genes revealed by large scale whole-exome studies.
Molecular genetics and metabolism | 2018-04-01 | PMID 29452748
Schiaffino Stefano
Traumatic stress and accelerated DNA methylation age: A meta-analysis.
Psychoneuroendocrinology | 2018-06-01 | PMID 29452766
Wolf Erika J, Maniates Hannah, Nugent Nicole and 29 more
Women-specific risk factors for heart failure: A genetic approach.
Maturitas | 2018-03-01 | PMID 29452776
van der Kemp Jet, van der Schouw Yvonne T, Asselbergs Folkert W and 1 more
Genes: PRKD1
Evaluation of liquid biopsies for detection of emerging mutated genes in metastatic colorectal cancer.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology | 2018-07-01 | PMID 29452859
Furuki Hiroyasu, Yamada Takeshi, Takahashi Goro and 7 more
Protective Effect of Human Leukocyte Antigen (HLA) Allele DRB1*13:02 on Age-Related Brain Gray Matter Volume Reduction in Healthy Women.
EBioMedicine | 2018-03-01 | PMID 29452862
James Lisa M, Christova Peka, Lewis Scott M and 3 more
A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome.
Journal of clinical lipidology | 2000-01-01 | PMID 29452893
Paquette Martine, Hegele Robert A, Paré Guillaume and 1 more
Genes: GPIHBP1, APOA5, APOC2, LMF1, LPL
BRCA1 mutation spectrum, functions, and therapeutic strategies: The story so far.
Current problems in cancer | 2000-01-01 | PMID 29452958
Sharma Babita, Preet Kaur Raman, Raut Sonali and 1 more
Genes: BRCA1
Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.
International journal of cardiology | 2018-05-01 | PMID 29452988
Verhagen Judith M A, Kempers Marlies, Cozijnsen Luc and 12 more
Determining the number of contributors to DNA mixtures in the low-template regime: Exploring the impacts of sampling and detection effects.
Legal medicine (Tokyo, Japan) | 2018-05-01 | PMID 29453054
Norsworthy Sarah, Lun Desmond S, Grgicak Catherine M
Antigenic and genetic evolution of contemporary swine H1 influenza viruses in the United States.
Virology | 2018-05-01 | PMID 29453058
Rajao Daniela S, Anderson Tavis K, Kitikoon Pravina and 3 more
Potential roles for transposable elements in creating imprinted expression.
Current opinion in genetics & development | 2018-04-01 | PMID 29453082
Anderson Sarah N, Springer Nathan M
Genetics of type 1 diabetes.
Current opinion in genetics & development | 2018-06-01 | PMID 29453110
Robertson Catherine C, Rich Stephen S
Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene.
Stem cell research | 2018-04-01 | PMID 29453128
Bolinches-Amorós Arantxa, Lukovic Dunja, Castro Ana Artero and 8 more
Genes: KLF4, SOX2
Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.
Journal of medical genetics | 2018-05-01 | PMID 29453195
Gao Xue, Yuan Yong-Yi, Lin Qiong-Fen and 15 more
Genes: IFNLR1, STAT3