[Increased knowledge on familial melanoma and the underlying genetics].
Lakartidningen | 2017-05-09 | PMID 28485764
Helgadottir Hildur, Nielsen Kari, Höiom Veronica
Genes: BAP1, ACD, ASIP, CDK4, POT1, TERT, TYR, TYRP1
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 7344 of 10600
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.
Clinical genetics | 2017-12-01 | PMID 28485813
Colombi M, Dordoni C, Venturini M and 8 more
Somatic mutation profiles of clear cell endometrial tumors revealed by whole exome and targeted gene sequencing.
Cancer | 2017-09-01 | PMID 28485815
Le Gallo Matthieu, Rudd Meghan L, Urick Mary Ellen and 14 more
Genes: TAF1, SPOP
Comparative tests of the species-genetic diversity correlation at neutral and nonneutral loci in four species of stream insect.
Evolution; international journal of organic evolution | 2017-07-01 | PMID 28485820
Watanabe Kozo, Monaghan Michael T
Matrix metalloproteinase family polymorphisms and the risk of aortic aneurysmal diseases: A systematic review and meta-analysis.
Clinical genetics | 2018-01-01 | PMID 28485889
Li T, Lv Z, Jing J-J and 2 more
Characterization of KCNE1 inside Lipodisq Nanoparticles for EPR Spectroscopic Studies of Membrane Proteins.
The journal of physical chemistry. B | 2017-06-01 | PMID 28485937
Sahu Indra D, Zhang Rongfu, Dunagan Megan M and 2 more
Lymphatic Endothelial Cells under Mechanical Stress: Altered Expression of Inflammatory Cytokines and Fibrosis.
Lymphatic research and biology | 2017-06-01 | PMID 28486010
Wang Sheri, Nie Daibang, Rubin J Peter and 1 more
Flow cytometric measurement of the cellular propagation of TDP-43 aggregation.
Prion | 2017-05-04 | PMID 28486039
Zeineddine Rafaa, Whiten Daniel R, Farrawell Natalie E and 5 more
Non-V600 BRAF Mutations Define a Clinically Distinct Molecular Subtype of Metastatic Colorectal Cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2017-08-10 | PMID 28486044
Jones Jeremy C, Renfro Lindsay A, Al-Shamsi Humaid O and 15 more
Genes: BRAF
Tackling Resistance to PI3K Inhibition by Targeting the Epigenome.
Cancer cell | 2017-05-08 | PMID 28486103
Koren Shany, Bentires-Alj Mohamed
Hippo Signaling Suppresses Cell Ploidy and Tumorigenesis through Skp2.
Cancer cell | 2017-05-08 | PMID 28486106
Zhang Shihao, Chen Qinghua, Liu Qingxu and 21 more
RasGRP3 Mediates MAPK Pathway Activation in GNAQ Mutant Uveal Melanoma.
Cancer cell | 2017-05-08 | PMID 28486107
Chen Xu, Wu Qiuxia, Depeille Philippe and 6 more
Genes: GNAQ, GNA11
Tumor-Residing Batf3 Dendritic Cells Are Required for Effector T Cell Trafficking and Adoptive T Cell Therapy.
Cancer cell | 2017-05-08 | PMID 28486109
Spranger Stefani, Dai Daisy, Horton Brendan and 1 more
Genes: CXCL9
Dietary supplementation with long-chain monounsaturated fatty acid isomers decreases atherosclerosis and alters lipoprotein proteomes in LDLr-/- mice.
Atherosclerosis | 2017-07-01 | PMID 28486149
Yang Zhi-Hong, Gordon Scott M, Sviridov Denis and 7 more
Genes: CRP, LDLR
Synergistic effect of low K and D vitamin status on arterial stiffness in a general population.
The Journal of nutritional biochemistry | 2017-08-01 | PMID 28486172
Mayer Otto, Seidlerová Jitka, Wohlfahrt Peter and 10 more
Icariin stimulates osteogenic differentiation of rat bone marrow stromal stem cells by increasing TAZ expression.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2017-07-01 | PMID 28486190
Wei QiuShi, He MinCong, Chen MeiHui and 5 more
Genes: DKK1
Mutation of Spirulina sp. by nuclear irradiation to improve growth rate under 15% carbon dioxide in flue gas.
Bioresource technology | 2017-08-01 | PMID 28486198
Cheng Jun, Lu Hongxiang, He Xin and 3 more
Evaluation of recombinant factor VIII Fc (Eloctate) activity by thromboelastometry in a multicenter phase 3 clinical trial and correlation with bleeding phenotype.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 2017-10-01 | PMID 28486277
Driessler Frank, Miguelino Maricel G, Pierce Glenn F and 2 more
Human Papillomavirus (HPV) Genotypes in Condylomas, Intraepithelial Neoplasia, and Invasive Carcinoma of the Penis Using Laser Capture Microdissection (LCM)-PCR: A Study of 191 Lesions in 43 Patients.
The American journal of surgical pathology | 2017-06-01 | PMID 28486384
Fernández-Nestosa María J, Guimerà Nuria, Sanchez Diego F and 5 more
Apolipoprotein C-I Polymorphism and Its Association with Serum Lipid Levels and Longevity in the Bama Population.
International journal of environmental research and public health | 2017-05-09 | PMID 28486432
Li You, Huang Yongquan, Liang Xue and 6 more
Genes: DBP
Vitamin D levels and susceptibility to asthma, elevated immunoglobulin E levels, and atopic dermatitis: A Mendelian randomization study.
PLoS medicine | 2017-05-01 | PMID 28486474
Manousaki Despoina, Paternoster Lavinia, Standl Marie and 8 more
Phenotypic heterogeneity promotes adaptive evolution.
PLoS biology | 2017-05-01 | PMID 28486496
Bódi Zoltán, Farkas Zoltán, Nevozhay Dmitry and 14 more
Genetic diversity, QoI fungicide resistance, and mating type distribution of Cercospora sojina-Implications for the disease dynamics of frogeye leaf spot on soybean.
PloS one | 2017-01-01 | PMID 28486517
Shrestha Sandesh Kumar, Cochran Alicia, Mengistu Alemu and 3 more
Prognostic impact of EGFR mutation in non-small-cell lung cancer patients with family history of lung cancer.
PloS one | 2017-01-01 | PMID 28486527
Kim Jung Soo, Cho Min Seong, Nam Jong Hyeon and 3 more
Genes: EGFR
Identifying biologically relevant putative mechanisms in a given phenotype comparison.
PloS one | 2017-01-01 | PMID 28486531
Hanoudi Samer, Donato Michele, Draghici Sorin
Exogenous alpha 1-antitrypsin down-regulates SERPINA1 expression.
PloS one | 2017-01-01 | PMID 28486562
Karadagi Ahmad, Johansson Helene, Zemack Helen and 12 more
Genes: SERPINA1, OSM
Activation-Induced Autophagy Is Preserved in CD4+ T-Cells in Familial Longevity.
The journals of gerontology. Series A, Biological sciences and medical sciences | 2017-09-01 | PMID 28486590
Raz Yotam, Guerrero-Ros Ignacio, Maier Andrea and 4 more
Constraints on the FST-Heterozygosity Outlier Approach.
The Journal of heredity | 2017-07-01 | PMID 28486592
Flanagan Sarah P, Jones Adam G
Genes: FST
Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling.
Human molecular genetics | 2017-08-01 | PMID 28486600
Li Jianshuang, Lu Di, Liu Huadie and 5 more
Genes: STAT3, SCLT1
Clinical Identification of Oncogenic Drivers and Copy-Number Alterations in Pituitary Tumors.
Endocrinology | 2017-07-01 | PMID 28486603
Bi Wenya Linda, Greenwald Noah F, Ramkissoon Shakti H and 12 more
Genes: CTNNB1, GNAS
Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization.
Human molecular genetics | 2017-08-01 | PMID 28486623
Girolimetti Giulia, Guerra Flora, Iommarini Luisa and 12 more
Natural Variation in the Distribution and Abundance of Transposable Elements Across the Caenorhabditis elegans Species.
Molecular biology and evolution | 2017-09-01 | PMID 28486636
Laricchia K M, Zdraljevic S, Cook D E and 1 more
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.
Human molecular genetics | 2017-08-15 | PMID 28486640
Cao Felicia, Lu Linchao, Abrams Steven A and 9 more
Genes: RECQL4
Editor's Highlight: Modifying Role of Endothelial Function Gene Variants on the Association of Long-Term PM2.5 Exposure With Blood DNA Methylation Age: The VA Normative Aging Study.
Toxicological sciences : an official journal of the Society of Toxicology | 2017-07-01 | PMID 28486674
Nwanaji-Enwerem Jamaji C, Bind Marie-Abele, Dai Lingzhen and 10 more
Evolution and dissemination of the Klebsiella pneumoniae clonal group 258 throughout Israeli post-acute care hospitals, 2008-13.
The Journal of antimicrobial chemotherapy | 2017-08-01 | PMID 28486697
Adler Amos, Lifshitz Ziv, Gordon Michal and 6 more
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.
Human molecular genetics | 2017-08-01 | PMID 28486698
Hollstein Ronja, Reiz Benedikt, Kötter Lucas and 4 more
Genes: THAP1, HCFC1, HBM
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
International journal of cancer | 2017-08-15 | PMID 28486781
Lolas Hamameh Suhair, Renbaum Paul, Kamal Lara and 12 more
Genes: BRCA1, ATM, BARD1, BRCA2, BRIP1, CHEK2, PALB2, PTEN
Role of N-glycosylation in EGFR ectodomain ligand binding.
Proteins | 2017-08-01 | PMID 28486782
Azimzadeh Irani Maryam, Kannan Srinivasaraghavan, Verma Chandra
Genes: EGFR, EGF
Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease.
Clinical pharmacology and therapeutics | 2017-12-01 | PMID 28486791
Plantinga T S, Arts P, Knarren G H and 14 more
Genes: NOX3
Gambling disorder: an integrative review of animal and human studies.
Annals of the New York Academy of Sciences | 2017-04-01 | PMID 28486792
Nautiyal Katherine M, Okuda Mayumi, Hen Rene and 1 more
Maternal/fetal eNOS-Glu298Asp genotypes and their influence on the severity, prognosis, and lipid profile of preeclampsia.
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 | 2018-07-01 | PMID 28486825
Maria Procopciuc Lucia, Caracostea Gabriela, Maria Hazi Georgeta and 3 more
Habitual coffee consumption and genetic predisposition to obesity: gene-diet interaction analyses in three US prospective studies.
BMC medicine | 2017-05-09 | PMID 28486942
Wang Tiange, Huang Tao, Kang Jae H and 10 more
Genes: NHS
Cell separation in kiwifruit without development of a specialised detachment zone.
BMC plant biology | 2017-05-10 | PMID 28486974
Prakash Roneel, Hallett Ian C, Wong Sally F and 6 more
The salvage therapy in lung adenocarcinoma initially harbored susceptible EGFR mutation and acquired resistance occurred to the first-line gefitinib and second-line cytotoxic chemotherapy.
BMC pharmacology & toxicology | 2017-05-10 | PMID 28486985
Yang Chih-Jen, Hung Jen-Yu, Tsai Ming-Ju and 7 more
Genes: EGFR
Antimicrobial resistance and virulence characterization of Staphylococcus aureus and coagulase-negative staphylococci from imported beef meat.
Annals of clinical microbiology and antimicrobials | 2017-05-10 | PMID 28486995
Osman Kamelia, Alvarez-Ordóñez Avelino, Ruiz Lorena and 8 more
HMEC-1 adopt the mixed amoeboid-mesenchymal migration type during EndMT.
European journal of cell biology | 2017-06-01 | PMID 28487031
Kryczka Jakub, Przygodzka Patrycja, Bogusz Helena and 1 more
Patrilineal background of the She minority population from Chaoshan Fenghuang Mountain, an isolated mountain region, in China.
Genomics | 2017-07-01 | PMID 28487173
Liu Shuhui, Chen Guangcan, Huang Haihua and 5 more
Mobilization and integration of bacterial phenotypic data-Enabling next generation biodiversity analysis through the BacDive metadatabase.
Journal of biotechnology | 2017-11-10 | PMID 28487186
Reimer Lorenz C, Söhngen Carola, Vetcininova Anna and 1 more
Human LRRK2 G2019S mutation represses post-synaptic protein PSD95 and causes cognitive impairment in transgenic mice.
Neurobiology of learning and memory | 2017-07-01 | PMID 28487191
Adeosun Samuel O, Hou Xu, Zheng Baoying and 3 more
Genes: PSD
Mitochondrial determinants of cancer health disparities.
Seminars in cancer biology | 2017-12-01 | PMID 28487205
Choudhury Aaheli Roy, Singh Keshav K
Micro and macro geographical analysis of Y-chromosome lineages in South Iberia.
Forensic science international. Genetics | 2017-07-01 | PMID 28487219
Rey-González D, Gelabert-Besada M, Cruz R and 6 more
Variant in a common odorant-binding protein gene is associated with bitter sensitivity in people.
Behavioural brain research | 2017-06-30 | PMID 28487220
Tomassini Barbarossa Iole, Ozdener M Hakan, Melania and 4 more
Characterization of S-adenosylhomocysteine/Methylthioadenosine nucleosidase on secretion of AI-2 and biofilm formation of Escherichia coli.
Microbial pathogenesis | 2017-07-01 | PMID 28487228
Han Tian, Li Yanhua, Shan Qiuli and 5 more
The recipient CCR5 variation predicts survival outcomes after bone marrow transplantation.
Transplant immunology | 2017-06-01 | PMID 28487238
Horio Tomohiro, Mizuno Shohei, Uchino Kaori and 12 more
Genes: CCR5
Analysis of TLR2, TLR4, and TLR9 single nucleotide polymorphisms in children with bacterial meningitis and their healthy family members.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases | 2017-07-01 | PMID 28487240
Gowin Ewelina, Świątek-Kościelna Bogna, Kałużna Ewelina and 4 more
Genes: TLR9, TLR2, TLR4
Oxidative stress, genomic features and DNA repair in frail elderly: A systematic review.
Ageing research reviews | 2017-08-01 | PMID 28487242
Sánchez-Flores María, Marcos-Pérez Diego, Costa Solange and 5 more
Pinpointing cryptic borders: Fine-scale phylogeography and genetic landscape analysis of the Hormogaster elisae complex (Oligochaeta, Hormogastridae).
Molecular phylogenetics and evolution | 2017-07-01 | PMID 28487260
Marchán Daniel F, Fernández Rosa, de Sosa Irene and 2 more
The research progress of genomic selection in livestock.
Yi chuan = Hereditas | 2017-05-20 | PMID 28487270
Li Hong-wei, Wang Rui-jun, Wang Zhi-ying and 6 more
Simplification of genotyping techniques of the ABO blood type experiment and exploration of population genetics.
Yi chuan = Hereditas | 2017-05-20 | PMID 28487274
Hu Jian, Zhou Yi-ren, Ding Jia-lin and 6 more
Genes: ABO
A phenome database (NEAUHLFPD) designed and constructed for broiler lines divergently selected for abdominal fat content.
Yi chuan = Hereditas | 2017-05-20 | PMID 28487275
Li Min, Dong Xiang-yu, Liang Hao and 5 more
Female phenotype with male karyotype: a clinical enigma.
BMJ case reports | 2017-05-09 | PMID 28487303
Sukumar Suja, Uppula Pavan, Kumar Santosh and 1 more
Complete deletion of Cd39 is atheroprotective in apolipoprotein E-deficient mice.
Journal of lipid research | 2017-07-01 | PMID 28487312
De Giorgi Marco, Enjyoji Keiichi, Jiang Gordon and 5 more
Genes: ABCA1
Haptoglobin Hp2 Variant Promotes Premature Cardiovascular Death in Stroke Survivors.
Stroke | 2017-06-01 | PMID 28487337
Ijäs Petra, Melkas Susanna, Saksi Jani and 8 more
Structure-function analysis of RBP-J-interacting and tubulin-associated (RITA) reveals regions critical for repression of Notch target genes.
The Journal of biological chemistry | 2017-06-23 | PMID 28487372
Tabaja Nassif, Yuan Zhenyu, Oswald Franz and 1 more
Encephalomyocarditis virus 3C protease attenuates type I interferon production through disrupting the TANK-TBK1-IKKε-IRF3 complex.
The Biochemical journal | 2017-06-09 | PMID 28487378
Huang Li, Xiong Tao, Yu Huibin and 14 more
Genes: TANK, TBK1
1-N-histidine phosphorylation of ChlD by the AAA+ ChlI2 stimulates magnesium chelatase activity in chlorophyll synthesis.
The Biochemical journal | 2017-06-09 | PMID 28487379
Sawicki Artur, Zhou Shuaixiang, Kwiatkowski Kathrin and 2 more
Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus.
Circulation | 2017-08-01 | PMID 28487391
Kessler Thorsten, Wobst Jana, Wolf Bernhard and 15 more
Genes: ZEB1
EphA2 Expression Regulates Inflammation and Fibroproliferative Remodeling in Atherosclerosis.
Circulation | 2017-08-08 | PMID 28487392
Finney Alexandra C, Funk Steven D, Green Jonette M and 11 more
Acute inactivation of the replicative helicase in human cells triggers MCM8-9-dependent DNA synthesis.
Genes & development | 2017-04-15 | PMID 28487407
Natsume Toyoaki, Nishimura Kohei, Minocherhomji Sheroy and 3 more
Genes: MCM8, MCM2, RAD51, RAD52
A Variant PfCRT Isoform Can Contribute to Plasmodium falciparum Resistance to the First-Line Partner Drug Piperaquine.
mBio | 2017-05-09 | PMID 28487425
Dhingra Satish K, Redhi Devasha, Combrinck Jill M and 12 more
Structural Basis for Linezolid Binding Site Rearrangement in the Staphylococcus aureus Ribosome.
mBio | 2017-05-09 | PMID 28487427
Belousoff Matthew J, Eyal Zohar, Radjainia Mazdak and 12 more
CRISPR/Cas9: at the cutting edge of hepatology.
Gut | 2017-07-01 | PMID 28487442
Pankowicz Francis P, Jarrett Kelsey E, Lagor William R and 1 more
HER2 Reactivation through Acquisition of the HER2 L755S Mutation as a Mechanism of Acquired Resistance to HER2-targeted Therapy in HER2+ Breast Cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2017-09-01 | PMID 28487443
Xu Xiaowei, De Angelis Carmine, Burke Kathleen A and 31 more
Targeting BRAF-Mutant Non-Small Cell Lung Cancer: From Molecular Profiling to Rationally Designed Therapy.
The oncologist | 2017-07-01 | PMID 28487464
Baik Christina S, Myall Nathaniel J, Wakelee Heather A
Genes: BRAF
Overall Survival and Clinical Characteristics of BRCA-Associated Cholangiocarcinoma: A Multicenter Retrospective Study.
The oncologist | 2017-07-01 | PMID 28487467
Golan Talia, Raitses-Gurevich Maria, Kelley Robin K and 11 more
Genes: BRCA1, BRCA2
Epigallocatechin gallate has pleiotropic effects on transmembrane signaling by altering the embedding of transmembrane domains.
The Journal of biological chemistry | 2017-06-16 | PMID 28487468
Ye Feng, Yang Chansik, Kim Jiyoon and 5 more
Genes: EGFR, EGF
Diversification of Root Hair Development Genes in Vascular Plants.
Plant physiology | 2017-07-01 | PMID 28487476
Huang Ling, Shi Xinhui, Wang Wenjia and 2 more
A Magnesium Transporter OsMGT1 Plays a Critical Role in Salt Tolerance in Rice.
Plant physiology | 2017-07-01 | PMID 28487477
Chen Zhi Chang, Yamaji Naoki, Horie Tomoaki and 4 more
Flavodiiron Proteins Promote Fast and Transient O2 Photoreduction in Chlamydomonas.
Plant physiology | 2017-07-01 | PMID 28487478
Chaux Frédéric, Burlacot Adrien, Mekhalfi Malika and 4 more
The Prenylated Rab GTPase Receptor PRA1.F4 Contributes to Protein Exit from the Golgi Apparatus.
Plant physiology | 2017-07-01 | PMID 28487479
Lee Myoung Hui, Yoo Yun-Joo, Kim Dae Heon and 3 more
A phase II trial of regorafenib in patients with metastatic and/or a unresectable gastrointestinal stromal tumor harboring secondary mutations of exon 17.
Oncotarget | 2017-07-04 | PMID 28487491
Yeh Chun-Nan, Chen Ming-Huang, Chen Yen-Yang and 5 more
Genes: KIT, PDGFRA
Sequencing of cancer cell subpopulations identifies micrometastases in a bladder cancer patient.
Oncotarget | 2017-07-11 | PMID 28487492
Prado Kris, Zhang Kelvin X, Pellegrini Matteo and 1 more
Programmed death-1 polymorphisms is associated with risk of esophagogastric junction adenocarcinoma in the Chinese Han population: A case-control study involving 2,740 subjects.
Oncotarget | 2017-06-13 | PMID 28487496
Tang Weifeng, Chen Shuchen, Chen Yu and 5 more
Updated meta-analysis of the role of APOE ε2/ε3/ε4 alleles in frontotemporal lobar degeneration.
Oncotarget | 2017-07-04 | PMID 28487499
Su Wen-Hua, Shi Zhi-Hong, Liu Shu-Ling and 3 more
Genes: APOE
Influence of depression on genetic predisposition to type 2 diabetes in a multiethnic longitudinal study.
Scientific reports | 2017-05-09 | PMID 28487510
Garasia Sophiya, Samaan Zainab, Gerstein Hertzel C and 5 more
An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.
Scientific reports | 2017-05-09 | PMID 28487520
Stayner C, Poole C A, McGlashan S R and 20 more
Genes: TMEM67
Common sequence variants affect molecular function more than rare variants?
Scientific reports | 2017-05-09 | PMID 28487536
Mahlich Yannick, Reeb Jonas, Hecht Maximilian and 4 more
Maternal cytokine status may prime the metabolic profile and increase risk of obesity in children.
International journal of obesity (2005) | 2017-09-01 | PMID 28487553
Englich B, Herberth G, Rolle-Kampczyk U and 7 more
Adaptation to dietary conditions by trehalose metabolism in Drosophila.
Scientific reports | 2017-05-09 | PMID 28487555
Yasugi Tetsuo, Yamada Takayuki, Nishimura Takashi
A robust in vitro model for trans-lymphatic endothelial migration.
Scientific reports | 2017-05-09 | PMID 28487567
Xiong Yanbao, Brinkman C Colin, Famulski Konrad S and 5 more
Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.
Scientific reports | 2017-05-09 | PMID 28487569
Mao Xiao, Li Kai, Tang Beisha and 15 more
Genes: ADSL
Recombinant TgHSP70 Immunization Protects against Toxoplasma gondii Brain Cyst Formation by Enhancing Inducible Nitric Oxide Expression.
Frontiers in cellular and infection microbiology | 2017-01-01 | PMID 28487847
Czarnewski Paulo, Araújo Ester C B, Oliveira Mário C and 2 more
When "N of 2" is not enough: integrating statistical and functional data in gene discovery.
Cold Spring Harbor molecular case studies | 2017-05-01 | PMID 28487880
Cassa Christopher A, Akle Sebastian, Jordan Daniel M and 1 more
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.
Cold Spring Harbor molecular case studies | 2017-05-01 | PMID 28487881
Purshouse Karin, Schuh Anna, Fairfax Benjamin P and 13 more
Genes: BRCA2
Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.
Cold Spring Harbor molecular case studies | 2017-05-01 | PMID 28487882
Uzilov Andrew V, Cheesman Khadeen C, Fink Marc Y and 20 more
Genes: USP8, RASD1
Genetic and epigenetic profiling of a solitary Peutz-Jeghers colon polyp.
Cold Spring Harbor molecular case studies | 2017-05-01 | PMID 28487883
Linhart Heinz, Bormann Felix, Hutter Barbara and 2 more
Genes: STK11
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Cold Spring Harbor molecular case studies | 2017-05-01 | PMID 28487885
Blackburn Patrick R, Barnett Sarah S, Zimmermann Michael T and 9 more
Genes: EBF3, EBF1
ASSOCIATION OF MTHFR A1298C POLYMORPHISM WITH BREAST CANCER AND/OR OVARIAN CANCER RISK: AN UPDATED META-ANALYSIS.
African journal of traditional, complementary, and alternative medicines : AJTCAM | 2016-01-01 | PMID 28487897
Liu Wei, Li Yi, Li Rui and 4 more
Genes: MTHFR
Elucidating drug targets and mechanisms of action by genetic screens in mammalian cells.
Chemical communications (Cambridge, England) | 2017-06-29 | PMID 28487920
Kampmann Martin
High expression levels of the D686N Parkinson's disease mutation in VPS35 induces α-synuclein-dependent toxicity in yeast.
Molecular medicine reports | 2017-07-01 | PMID 28487947
Huang Yi, Chen Xiang, He Xiaofei and 9 more
Genes: VPS35