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 6981 of 10600

Interleukin-27 as a Novel Biomarker for Early Cardiopulmonary Failure in Enterovirus 71-Infected Children with Central Nervous System Involvement.
Mediators of inflammation | 2016-01-01 | PMID 27403033
Huang Mingyuan, Du Wenjing, Liu Jun and 14 more
Genes: CRP
Distinct Expression Pattern of a Deafness Gene, KIAA1199, in a Primate Cochlea.
BioMed research international | 2016-01-01 | PMID 27403418
Hosoya Makoto, Fujioka Masato, Okano Hideyuki and 1 more
Multi-OMICs and Genome Editing Perspectives on Liver Cancer Signaling Networks.
BioMed research international | 2016-01-01 | PMID 27403431
Lin Shengda, Yin Yi A, Jiang Xiaoqian and 2 more
Genes: TERT
Germline MC1R status influences somatic mutation burden in melanoma.
Nature communications | 2016-07-12 | PMID 27403562
Robles-Espinoza Carla Daniela, Roberts Nicola D, Chen Shuyang and 8 more
Mutations in Human Interferon α2b Gene and Potential as Risk Factor Associated with Female Breast Cancer.
Cancer biotherapy & radiopharmaceuticals | 2016-08-01 | PMID 27403569
Ahmed Fayyaz, Mahmood Nasir, Shahid Saman and 7 more
Genetic contribution to variation in DNA methylation at maternal smoking-sensitive loci in exposed neonates.
Epigenetics | 2016-09-01 | PMID 27403598
Gonseth Semira, de Smith Adam J, Roy Ritu and 8 more
Genes: GFI1, AHRR
Correlation of Histologic Subtypes and Molecular Alterations in Pulmonary Adenocarcinoma: Therapeutic and Prognostic Implications.
Advances in anatomic pathology | 2016-09-01 | PMID 27403614
Kim Jiyoon, Jang Se Jin, Choi Chang Min and 1 more
Genes: ALK, EGFR, KRAS, BRAF, NRG1, RET, ROS1
Transthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease.
Journal of the peripheral nervous system : JPNS | 2016-12-01 | PMID 27403623
Buades-Reinés Juan, Raya-Cruz Manuel, Gallego-Lezaún Cristina and 4 more
Genes: FAP, TTR
Structures of Gate Loop Variants of the AcrB Drug Efflux Pump Bound by Erythromycin Substrate.
PloS one | 2016-01-01 | PMID 27403665
Ababou Abdessamad, Koronakis Vassilis
A metabolic intermediate of the fructose-asparagine utilization pathway inhibits growth of a Salmonella fraB mutant.
Scientific reports | 2016-07-12 | PMID 27403719
Sabag-Daigle Anice, Blunk Henry M, Sengupta Anindita and 8 more
Effects of l-Tyrosine on working memory and inhibitory control are determined by DRD2 genotypes: A randomized controlled trial.
Cortex; a journal devoted to the study of the nervous system and behavior | 2016-09-01 | PMID 27403851
Colzato Lorenza S, Steenbergen Laura, Sellaro Roberta and 3 more
Genes: TYR, DRD2
Effect of Cryopreservation and Post-Cryopreservation Somatic Embryogenesis on the Epigenetic Fidelity of Cocoa (Theobroma cacao L.).
PloS one | 2016-01-01 | PMID 27403857
Adu-Gyamfi Raphael, Wetten Andy, Marcelino Rodríguez López Carlos
Differential Insulin Secretion of High-Fat Diet-Fed C57BL/6NN and C57BL/6NJ Mice: Implications of Mixed Genetic Background in Metabolic Studies.
PloS one | 2016-01-01 | PMID 27403868
Attané Camille, Peyot Marie-Line, Lussier Roxane and 4 more
Mechanics of soft epithelial keratin networks depend on modular filament assembly kinetics.
Acta biomaterialia | 2016-10-01 | PMID 27403885
Deek Joanna, Hecht Fabian, Rossetti Leone and 2 more
The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.
The Journal of clinical endocrinology and metabolism | 2016-11-01 | PMID 27403927
Lucas-Herald A, Bertelloni S, Juul A and 21 more
A Novel Phenotype of Familial Hyperaldosteronism Type III: Concurrence of Aldosteronism and Cushing's Syndrome.
The Journal of clinical endocrinology and metabolism | 2016-11-01 | PMID 27403928
Tong Anli, Liu Guanghua, Wang Fen and 5 more
Genes: KCNJ5, PRKACA
Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR.
The Journal of clinical endocrinology and metabolism | 2016-11-01 | PMID 27403930
Shetty Shilpa, Xing Chao, Garg Abhimanyu
Genes: GCKR, APOA5, APOC2, GPIHBP1, LMF1, LPL
Genetic and Clinical Predictive Factors of Sulfonylurea Failure in Patients with Type 2 Diabetes.
Diabetes technology & therapeutics | 2016-09-01 | PMID 27403931
Ren Qian, Xiao Di, Han Xueyao and 10 more
Genes: FMO2, FMO3
Heritable genome editing with CRISPR/Cas9 induces anosmia in a crop pest moth.
Scientific reports | 2016-07-12 | PMID 27403935
Koutroumpa Fotini A, Monsempes Christelle, François Marie-Christine and 4 more
Clinicopathological Characteristics, Surgery and Survival Outcomes of Patients with Duodenal Gastrointestinal Stromal Tumors.
Digestion | 2016-01-01 | PMID 27403957
Sugase Takahito, Takahashi Tsuyoshi, Nakajima Kiyokazu and 11 more
High-throughput proteome dynamics for discovery of key proteins in sentinel species: Unsuspected vitellogenins diversity in the crustacean Gammarus fossarum.
Journal of proteomics | 2016-09-02 | PMID 27404005
Trapp Judith, Armengaud Jean, Gaillard Jean-Charles and 3 more
DNA Methylation Profiling in Chondrocyte Dedifferentiation In Vitro.
Journal of cellular physiology | 2017-07-01 | PMID 27404036
Duan Li, Liang Yujie, Ma Bin and 8 more
Insights into the molecular phylogeny and historical biogeography of the white-clawed crayfish (Decapoda, Astacidae).
Molecular phylogenetics and evolution | 2016-10-01 | PMID 27404041
Jelić Mišel, Klobučar Göran I V, Grandjean Frédéric and 5 more
A reinvestigation of phylogeny and divergence times of the Ablepharus kitaibelii species complex (Sauria, Scincidae) based on mtDNA and nuDNA genes.
Molecular phylogenetics and evolution | 2016-10-01 | PMID 27404043
Skourtanioti Eirini, Kapli Paschalia, Ilgaz Çetin and 7 more
Genes: NKTR
Cosmid based mutagenesis causes genetic instability in Streptomyces coelicolor, as shown by targeting of the lipoprotein signal peptidase gene.
Scientific reports | 2016-07-12 | PMID 27404047
Munnoch John T, Widdick David A, Chandra Govind and 3 more
Genome Editing in Astyanax mexicanus Using Transcription Activator-like Effector Nucleases (TALENs).
Journal of visualized experiments : JoVE | 2016-06-20 | PMID 27404092
Kowalko Johanna E, Ma Li, Jeffery William R
Hepatitis C Virus Frameshift/Alternate Reading Frame Protein Suppresses Interferon Responses Mediated by Pattern Recognition Receptor Retinoic-Acid-Inducible Gene-I.
PloS one | 2016-01-01 | PMID 27404108
Park Seung Bum, Seronello Scott, Mayer Wasima and 1 more
Colour polymorphism.
Current biology : CB | 2016-07-11 | PMID 27404233
White Thomas E, Kemp Darrell J
Ageing: How Do Long-Lived Plants Escape Mutational Meltdown?
Current biology : CB | 2016-07-11 | PMID 27404239
Groot Edwin P, Laux Thomas
Identification and Validation of Loci Governing Seed Coat Color by Combining Association Mapping and Bulk Segregation Analysis in Soybean.
PloS one | 2016-01-01 | PMID 27404272
Song Jian, Liu Zhangxiong, Hong Huilong and 7 more
Involvement of the agmatinergic system in the depressive-like phenotype of the Crtc1 knockout mouse model of depression.
Translational psychiatry | 2016-07-12 | PMID 27404284
Meylan E M, Breuillaud L, Seredenina T and 4 more
Genes: BDNF, CRTC1
Right Place Right Time: Heterogeneity-Driven Organ Geometry.
Developmental cell | 2016-07-11 | PMID 27404352
Scorza Livia Camilla Trevisan, Nakayama Naomi
Variable Cell Growth Yields Reproducible OrganDevelopment through Spatiotemporal Averaging.
Developmental cell | 2016-07-11 | PMID 27404356
Hong Lilan, Dumond Mathilde, Tsugawa Satoru and 12 more
Characterisation of PD-L1-positive subsets of microsatellite-unstable colorectal cancers.
British journal of cancer | 2016-08-09 | PMID 27404452
Kim Jung Ho, Park Hye Eun, Cho Nam-Yun and 2 more
Genes: BRAF, MLH1
Genetic diversity, the virulence gene profile and antimicrobial resistance of clinical mastitis-associated Escherichia coli.
Research in microbiology | 2016-10-01 | PMID 27404459
Keane Orla M
CFH Y402H and VEGF Polymorphisms and Anti-VEGF Treatment Response in Exudative Age-Related Macular Degeneration.
Ophthalmic research | 2016-01-01 | PMID 27404493
Kepez Yildiz Burcin, Ozdek Sengul, Ergun Mehmet Ali and 3 more
Genes: CFH
Product Release Pathways in Human and Plasmodium falciparum Phosphoribosyltransferase.
Journal of chemical information and modeling | 2016-08-22 | PMID 27404508
Karmakar Tarak, Roy Sourav, Balaram Hemalatha and 2 more
Bypass of Mutagenic O(6)-Carboxymethylguanine DNA Adducts by Human Y- and B-Family Polymerases.
Chemical research in toxicology | 2016-09-19 | PMID 27404553
Räz Michael H, Dexter Hannah R, Millington Christopher L and 3 more
Antigen Uptake during Different Life Stages of Zebrafish (Danio rerio) Using a GFP-Tagged Yersinia ruckeri.
PloS one | 2016-01-01 | PMID 27404564
Korbut Rozalia, Mehrdana Foojan, Kania Per Walter and 4 more
Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat.
PloS one | 2016-01-01 | PMID 27404572
Mizukami Keijiro, Raj Karthik, Osborne Carl and 1 more
Detection of a Novel qnrB19-Carrying Plasmid Variant Mediating Decreased Fluoroquinolone Susceptibility in Salmonella enterica Serovar Hadar.
Microbial drug resistance (Larchmont, N.Y.) | 2017-04-01 | PMID 27404660
Fiegen Ulrike, Klein Günter, de Jong Anno and 1 more
Polymorphisms in the Mannose-Binding Lectin Gene are Associated with Defective Mannose-Binding Lectin Functional Activity in Crohn's Disease Patients.
Scientific reports | 2016-07-12 | PMID 27404661
Choteau Laura, Vasseur Francis, Lepretre Frederic and 7 more
Genes: MBL2, NOD2
Identification and Validation of SNP Markers Linked to Dwarf Traits Using SLAF-Seq Technology in Lagerstroemia.
PloS one | 2016-01-01 | PMID 27404662
Ye Yuanjun, Cai Ming, Ju Yiqian and 5 more
Cholinergic genetics of visual attention: Human and mouse choline transporter capacity variants influence distractibility.
Journal of physiology, Paris | 2016-09-01 | PMID 27404793
Sarter Martin, Lustig Cindy, Blakely Randy D and 1 more
Sox transcription in sarcosine utilization is controlled by Sigma(54) and SoxR in Bacillus thuringiensis HD73.
Scientific reports | 2016-07-12 | PMID 27404799
Peng Qi, Liu Chunxia, Wang Bo and 4 more
Joint effects of folate intake and one-carbon-metabolizing genetic polymorphisms on breast cancer risk: a case-control study in China.
Scientific reports | 2016-07-12 | PMID 27404801
Luo Wei-Ping, Li Bin, Lin Fang-Yu and 5 more
Genes: MTHFR, MTR, MTRR
Otosclerosis Associated with a De Novo Mutation -832G > A in the TGFB1 Gene Promoter Causing a Decreased Expression Level.
Scientific reports | 2016-07-11 | PMID 27404893
Priyadarshi Saurabh, Hansdah Kirtal, Ray Chinmay Sundar and 2 more
Genes: TGFB1, MZF1
[A rare cause of diabetes mellitus].
Deutsche medizinische Wochenschrift (1946) | 2016-07-01 | PMID 27404933
Koliaki Chrysi, Knebel Birgit, Machicao Fausto and 2 more
Genes: GCK
Host Double Strand Break Repair Generates HIV-1 Strains Resistant to CRISPR/Cas9.
Scientific reports | 2016-07-12 | PMID 27404981
Yoder Kristine E, Bundschuh Ralf
Melanin pigmentation gives rise to black spots on the wings of the silkworm Bombyx mori.
Journal of insect physiology | 2000-01-01 | PMID 27405010
Ito Katsuhiko, Yoshikawa Manabu, Fujii Takeshi and 2 more
Genes: DDC
Impact of ABCB1 1236C > T-2677G > T-3435C > T polymorphisms on the anti-proliferative activity of imatinib, nilotinib, dasatinib and ponatinib.
Scientific reports | 2016-07-12 | PMID 27405085
Dessilly Géraldine, Panin Nadtha, Elens Laure and 2 more
Genes: ABCB1
Stroke sensitivity in the aged: sex chromosome complement vs. gonadal hormones.
Aging | 2016-07-01 | PMID 27405096
McCullough Louise D, Mirza Mehwish A, Xu Yan and 4 more
[Correlation between autophagy and polarization of macrophages in atherosclerosis plaque in arteriosclerosis obliterans amputees].
Yao xue xue bao = Acta pharmaceutica Sinica | 2016-01-01 | PMID 27405164
Chen Wen-na, Guo Sheng-nan, Wang Jun-yan and 3 more
Genes: STAT1, STAT6, TNF
[Construction and function identification of luciferase reporter gene vectors containing SNPs in NFKBIA gene 3'UTR].
Yao xue xue bao = Acta pharmaceutica Sinica | 2016-01-01 | PMID 27405166
Yang Shuo, Li Jia-li, Bi Hui-chang and 5 more
Genes: NFKBIA
[Evaluation of genetic diversity and population structure of Bletilla striata based on SRAP markers].
Yao xue xue bao = Acta pharmaceutica Sinica | 2016-01-01 | PMID 27405177
Sun Yu-long, Hou Bei-wei, Geng Li-xia and 4 more
Understanding the Differential Selectivity of Arrestins toward the Phosphorylation State of the Receptor.
ACS chemical neuroscience | 2016-09-21 | PMID 27405242
Sensoy Ozge, Moreira Irina S, Morra Giulia
Background radiation and childhood leukemia: A nationwide register-based case-control study.
International journal of cancer | 2016-11-01 | PMID 27405274
Nikkilä Atte, Erme Sini, Arvela Hannu and 4 more
Exploratory social network analysis and gene sequencing in people who inject drugs infected with hepatitis C virus.
Epidemiology and infection | 2016-10-01 | PMID 27405277
Wang Y, Tan X D, Zhou C and 7 more
Vesicles Are Persistent Features of Different Plastids.
Traffic (Copenhagen, Denmark) | 2016-10-01 | PMID 27405297
Lindquist Emelie, Solymosi Katalin, Aronsson Henrik
Phenotypic characterization of epibulbar dermoids.
International ophthalmology | 2017-06-01 | PMID 27405313
Walker Brian A, Saltzman Babette S, Herlihy Erin P and 1 more
One size fits all? Direct evidence for the heterogeneity of genetic drift throughout the genome.
Biology letters | 2016-07-01 | PMID 27405384
Jiménez-Mena Belén, Tataru Paula, Brøndum Rasmus F and 3 more
Bilayer Membrane Modulation of Membrane Type 1 Matrix Metalloproteinase (MT1-MMP) Structure and Proteolytic Activity.
Scientific reports | 2016-07-13 | PMID 27405411
Cerofolini Linda, Amar Sabrina, Lauer Janelle L and 4 more
Comparative genomic analysis identified a mutation related to enhanced heterologous protein production in the filamentous fungus Aspergillus oryzae.
Applied microbiology and biotechnology | 2016-11-01 | PMID 27405439
Jin Feng-Jie, Katayama Takuya, Maruyama Jun-Ichi and 1 more
LMNA-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy and Charcot-Marie-Tooth Type 2B1: A Patient-Discovered Unifying Diagnosis.
Journal of cardiovascular electrophysiology | 2016-07-01 | PMID 27405450
Liang Jackson J, Grogan Martha, Ackerman Michael J and 1 more
Genes: LMNA
A CONSTANS-like transcriptional activator, OsCOL13, functions as a negative regulator of flowering downstream of OsphyB and upstream of Ehd1 in rice.
Plant molecular biology | 2016-09-01 | PMID 27405463
Sheng Peike, Wu Fuqing, Tan Junjie and 14 more
Genes: RFT1
Polymorphisms in complement genes and risk of preeclampsia in Taiyuan, China.
Inflammation research : official journal of the European Histamine Research Society ... [et al.] | 2016-10-01 | PMID 27405496
Wu Weiwei, Yang Hailan, Feng Yongliang and 13 more
Genes: MASP1, MBL2
From the BMI paradox to the obesity paradox: the obesity-mortality association in coronary heart disease.
Obesity reviews : an official journal of the International Association for the Study of Obesity | 2016-10-01 | PMID 27405510
Antonopoulos A S, Oikonomou E K, Antoniades C and 1 more
Genetic heterogeneity of platelet glycoproteins Ia and IIIa and the risk of spontaneous miscarriages.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians | 2017-06-01 | PMID 27405521
Vlachadis Nikolaos, Tsamadias Vasileios, Vrachnis Nikolaos and 4 more
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Scientific reports | 2016-07-11 | PMID 27405544
Lin Wei-Xia, Zeng Han-Shi, Zhang Zhan-Hui and 7 more
Characterization of a cold-adapted esterase and mutants from a psychotolerant Pseudomonas sp. strain.
Biotechnology and applied biochemistry | 2017-09-01 | PMID 27405585
Dong Juan, Gasmalla Mohammed A A, Zhao Wei and 5 more
Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies.
Cellular and molecular life sciences : CMLS | 2016-12-01 | PMID 27405608
Gokoolparsadh Akira, Sutton Gavin J, Charamko Alexiy and 3 more
Effect of childhood maltreatment and brain-derived neurotrophic factor on brain morphology.
Social cognitive and affective neuroscience | 2016-11-01 | PMID 27405617
van Velzen Laura S, Schmaal Lianne, Jansen Rick and 6 more
Genes: BDNF
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
The Journal of allergy and clinical immunology | 2016-12-01 | PMID 27405666
Lagresle-Peyrou Chantal, Luce Sonia, Ouchani Farid and 29 more
Genes: MSN
Genomics of platelet disorders.
Haemophilia : the official journal of the World Federation of Hemophilia | 2016-07-01 | PMID 27405671
Westbury S K, Mumford A D
Genomic approaches to bleeding disorders.
Haemophilia : the official journal of the World Federation of Hemophilia | 2016-07-01 | PMID 27405675
Peyvandi F, Hayward C P M
Medical co-morbidities of patients with haemophilia: pain, obesity and hepatitis C.
Haemophilia : the official journal of the World Federation of Hemophilia | 2016-07-01 | PMID 27405676
Witkop M L, Peerlinck K, Luxon B A
Genetic analysis of bleeding disorders.
Haemophilia : the official journal of the World Federation of Hemophilia | 2016-07-01 | PMID 27405681
Edison E, Konkle B A, Goodeve A C
Genes: MIP
Protocol Design for the Bench to Bed Trial in Alectinib-Refractory Non-Small-Cell Lung Cancer Patients Harboring the EML4-ALK Fusion Gene (ALRIGHT/OLCSG1405).
Clinical lung cancer | 2016-11-01 | PMID 27405684
Isozaki Hideko, Hotta Katsuyuki, Ichihara Eiki and 18 more
Genes: ALK, MET, EML4
Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied.
Hematology (Amsterdam, Netherlands) | 2001-01-01 | PMID 27405697
Yawata Y, Kanzaki A, Yawata A and 2 more
Polymorphism of IL-10 receptor β affects the prognosis of multiple myeloma patients treated with thalidomide and/or bortezomib.
Hematological oncology | 2017-12-01 | PMID 27405747
Kasamatsu Tetsuhiro, Saitoh Takayuki, Ino Rumi and 9 more
Sofosbuvir plus simeprevir for the treatment of HCV genotype 4 patients with advanced fibrosis or compensated cirrhosis is highly efficacious in real life.
Journal of viral hepatitis | 2016-12-01 | PMID 27405785
Willemse S B, Baak L C, Kuiken S D and 10 more
Evaluation of physiological risk factors, oxidant-antioxidant imbalance, proteolytic and genetic variations of matrix metalloproteinase-9 in patients with pressure ulcer.
Scientific reports | 2016-07-11 | PMID 27405842
Latifa Khlifi, Sondess Sahli, Hajer Graiet and 6 more
Genes: MMP9
Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan.
Scientific reports | 2016-07-11 | PMID 27406031
Umemura Takeji, Joshita Satoru, Yamazaki Tomoo and 5 more
Genes: PTPN22
Dissection of genetic architecture of rice plant height and heading date by multiple-strategy-based association studies.
Scientific reports | 2016-07-13 | PMID 27406081
Zhou Liyuan, Liu Shouye, Wu Weixun and 8 more
Ectopic expression and functional characterization of type III polyketide synthase mutants from Emblica officinalis Gaertn.
Plant cell reports | 2016-10-01 | PMID 27406087
Aiswarya Girija, Mallika Vijayanathan, Mur Luis A J and 1 more
Dynamic Precision Phenotyping Reveals Mechanism of Crop Tolerance to Root Herbivory.
Plant physiology | 2016-10-01 | PMID 27406166
Qu Wenchao, Robert Christelle A M, Erb Matthias and 14 more
The DELLA-CONSTANS Transcription Factor Cascade Integrates Gibberellic Acid and Photoperiod Signaling to Regulate Flowering.
Plant physiology | 2016-09-01 | PMID 27406167
Wang Houping, Pan Jinjing, Li Yang and 3 more
Stomatal Spacing Safeguards Stomatal Dynamics by Facilitating Guard Cell Ion Transport Independent of the Epidermal Solute Reservoir.
Plant physiology | 2016-09-01 | PMID 27406168
Papanatsiou Maria, Amtmann Anna, Blatt Michael R
The Low Molecular Weight Protein PsaI Stabilizes the Light-Harvesting Complex II Docking Site of Photosystem I.
Plant physiology | 2016-09-01 | PMID 27406169
Plöchinger Magdalena, Torabi Salar, Rantala Marjaana and 5 more
Long-Term Growth of Moss in Microfluidic Devices Enables Subcellular Studies in Development.
Plant physiology | 2016-09-01 | PMID 27406170
Bascom Carlisle S, Wu Shu-Zon, Nelson Katherine and 2 more
Evaluating genotoxic risks in Brazilian public health agents occupationally exposed to pesticides: a multi-biomarker approach.
Environmental science and pollution research international | 2016-10-01 | PMID 27406225
Franco Fernanda Craveiro, Alves Alessandro Arruda, Godoy Fernanda Ribeiro and 6 more
Genes: CCL3, CXCL5, GSTM1, IGL, LGALS14, LRP1, NHS
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.
European journal of human genetics : EJHG | 2016-12-01 | PMID 27406249
van der Werf Ilse M, Buiting Karin, Czeschik Christina and 9 more
Genes: DLK1
Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
European journal of human genetics : EJHG | 2016-12-01 | PMID 27406250
Overwater Iris E, Swenker Rob, van der Ende Emma L and 8 more
Genes: TSC2, TSC1
Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants.
Human mutation | 2016-11-01 | PMID 27406314
Peterson Thomas A, Mort Matthew, Cooper David N and 3 more
A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.
Nature communications | 2016-07-13 | PMID 27406316
Ferrari Anthony, Vincent-Salomon Anne, Pivot Xavier and 40 more
Genes: ERBB2
A fatal yellow fever virus infection in China: description and lessons.
Emerging microbes & infections | 2016-07-13 | PMID 27406389
Chen Zhihai, Liu Lin, Lv Yanning and 24 more
Two SNPs Associated With Spontaneous Dizygotic Twinning: Effect Sizes and How We Communicate Them.
Twin research and human genetics : the official journal of the International Society for Twin Studies | 2016-10-01 | PMID 27406421
Mbarek Hamdi, Dolan Conor V, Boomsma Dorret I
Genes: FSHB, SMAD3
Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.
Human mutation | 2016-10-01 | PMID 27406592
Spickett Carl, Hysi Pirro, Hammond Chistopher J and 6 more
Identification of Concealed and Manifest Long QT Syndrome Using a Novel T Wave Analysis Program.
Circulation. Arrhythmia and electrophysiology | 2016-07-01 | PMID 27406603
Sugrue Alan, Noseworthy Peter A, Kremen Vaclav and 9 more
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.
Clinical genetics | 2016-08-01 | PMID 27406698
Covone A E, Fiorillo C, Acquaviva M and 4 more
Genes: SPG7