Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.
Journal of human genetics | 2016-12-01 | PMID 27488443
Straniero Letizia, Soldà Giulia, Costantino Lucy and 5 more
Genes: CFTR
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 7009 of 10600
Mitochondrial aldehyde dehydrogenase 2 deficiency aggravates energy metabolism disturbance and diastolic dysfunction in diabetic mice.
Journal of molecular medicine (Berlin, Germany) | 2016-11-01 | PMID 27488451
Wang Cong, Fan Fan, Cao Quan and 14 more
Genes: ALDH2
Severe disease presentation and poor outcomes among pediatric systemic lupus erythematosus patients in South Africa.
Lupus | 2017-02-01 | PMID 27488473
Lewandowski L B, Schanberg L E, Thielman N and 10 more
Adiposity influences airway wall thickness and the asthma phenotype of HIV-associated obstructive lung disease: a cross-sectional study.
BMC pulmonary medicine | 2016-08-04 | PMID 27488495
Barton Julia H, Ireland Alex, Fitzpatrick Meghan and 9 more
wisepair: a computer program for individual matching in genetic tracking studies.
Molecular ecology resources | 2017-03-01 | PMID 27488501
Rothstein Andrew P, McLaughlin Ryan, Acevedo-Gutiérrez Alejandro and 1 more
Paired Exome Analysis Reveals Clonal Evolution and Potential Therapeutic Targets in Urothelial Carcinoma.
Cancer research | 2016-10-01 | PMID 27488526
Lamy Philippe, Nordentoft Iver, Birkenkamp-Demtröder Karin and 10 more
Splenic Marginal Zone Granulocytes Acquire an Accentuated Neutrophil B-Cell Helper Phenotype in Chronic Lymphocytic Leukemia.
Cancer research | 2016-09-15 | PMID 27488528
Gätjen Marcel, Brand Franziska, Grau Michael and 8 more
Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk.
Cancer research | 2016-10-01 | PMID 27488534
Patel Yesha M, Park Sunghim L, Han Younghun and 18 more
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.
Journal of inherited metabolic disease | 2016-11-01 | PMID 27488560
Gomez-Ospina Natalia, Scott Anna I, Oh Gia J and 7 more
Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population.
Neurology | 2016-09-06 | PMID 27488601
Umoh Mfon E, Fournier Christina, Li Yingjie and 6 more
Dispersal propensity, but not flight performance, explains variation in dispersal ability.
Proceedings. Biological sciences | 2016-08-17 | PMID 27488649
Steyn Vernon M, Mitchell Katherine A, Terblanche John S
Population genetic inferences using immune gene SNPs mirror patterns inferred by microsatellites.
Molecular ecology resources | 2017-05-01 | PMID 27488693
Elbers Jean P, Clostio Rachel W, Taylor Sabrina S
Genes: FST
The association of DENND1A gene polymorphisms and polycystic ovary syndrome risk: a systematic review and meta-analysis.
Archives of gynecology and obstetrics | 2016-11-01 | PMID 27488699
Gao Jing, Xue Jing-Dong, Li Zhi-Chao and 2 more
Replication of genome-wide association signals in Asian Indians with early-onset type 2 diabetes.
Acta diabetologica | 2016-12-01 | PMID 27488727
Chidambaram Manickam, Liju Samuel, Saboo Banshi and 6 more
The rs6817105 polymorphism on chromosome 4q25 is associated with the risk of atrial fibrillation in the Chinese Han population.
Anatolian journal of cardiology | 2016-09-01 | PMID 27488752
Fang Zhen, Liu Yaowu, Ni Buqing and 3 more
A role for the spindle assembly checkpoint in the DNA damage response.
Current genetics | 2017-05-01 | PMID 27488803
Palou Roger, Palou Gloria, Quintana David G
Genes: ATR, ATM
Plastid phylogenomic study of species within the genus Zea: rates and patterns of three classes of microstructural changes.
Current genetics | 2017-05-01 | PMID 27488804
Orton Lauren M, Burke Sean V, Wysocki William P and 1 more
Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart.
Cancer research and treatment | 2017-04-01 | PMID 27488869
Zhu Pengcheng, Li Naping, Yu Lu and 3 more
Genes: BRAF, ECD
The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome.
Cancer research and treatment | 2017-04-01 | PMID 27488870
Lener Marcin R, Kashyap Aniruddh, Kluźniak Wojciech and 6 more
Genes: CHEK2, BRCA1, PALB2
Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients.
Cancer research and treatment | 2017-04-01 | PMID 27488874
Eoh Kyung Jin, Park Hyung Seok, Park Ji Soo and 7 more
Genes: BRCA1, BRCA2
Targeted BMI1 inhibition impairs tumor growth in lung adenocarcinomas with low CEBPα expression.
Science translational medicine | 2016-08-03 | PMID 27488898
Yong Kol Jia, Basseres Daniela S, Welner Robert S and 29 more
Genes: BMI1
Inhibition of the 3-hydroxy-3-methyl-glutaryl-CoA reductase induces orofacial defects in zebrafish.
Birth defects research. Part A, Clinical and molecular teratology | 2016-10-01 | PMID 27488927
Signore Iskra A, Jerez Carolina, Figueroa Diego and 4 more
Genes: HMGCR
Phylogeographic Patterns in Africa and High Resolution Delineation of Genetic Clades in the Lion (Panthera leo).
Scientific reports | 2016-08-04 | PMID 27488946
Bertola L D, Jongbloed H, van der Gaag K J and 12 more
Primary Noncutaneous Malignant Melanoma of the Breast.
The breast journal | 2016-11-01 | PMID 27488963
Rassouli Mohammad, Voutsadakis Ioannis A
Genes: BRAF
HLA-DRB1*16:39, a novel HLA-DRB1*16 variant, discovered in a Taiwanese bone marrow hematopoietic stem cell donor.
HLA | 2016-09-01 | PMID 27488973
Yang K L, Hung J H, Lin P Y
Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion.
American journal of physiology. Renal physiology | 2016-10-01 | PMID 27488999
Zacchia Miriam, Zacchia Enza, Zona Enrica and 10 more
Genes: AQP2, UMOD
Histone Deacetylases with Antagonistic Roles in Saccharomyces cerevisiae Heterochromatin Formation.
Genetics | 2016-09-01 | PMID 27489001
Thurtle-Schmidt Deborah M, Dodson Anne E, Rine Jasper
Gene and Network Analysis of Common Variants Reveals Novel Associations in Multiple Complex Diseases.
Genetics | 2016-10-01 | PMID 27489002
Nakka Priyanka, Raphael Benjamin J, Ramachandran Sohini
Genes: TPR
Genomic validation of the differential preservation of population history in modern human cranial anatomy.
American journal of physical anthropology | 2017-01-01 | PMID 27489014
Reyes-Centeno Hugo, Ghirotto Silvia, Harvati Katerina
Genes: FST
The association of three promoter polymorphisms in interleukin-10 gene with the risk for colorectal cancer and hepatocellular carcinoma: A meta-analysis.
Scientific reports | 2016-08-04 | PMID 27489033
Shi Yan-Hui, Zhao Dong-Mei, Wang Yue-Fei and 7 more
Oxidative stress status in Chinese women with different clinical phenotypes of polycystic ovary syndrome.
Clinical endocrinology | 2017-01-01 | PMID 27489079
Zhang Renjiao, Liu Hongwei, Bai Huai and 4 more
Electrophysiological and molecular mechanisms of paroxysmal atrial fibrillation.
Nature reviews. Cardiology | 2016-10-01 | PMID 27489190
Nattel Stanley, Dobrev Dobromir
Interplay between aggression, brain monoamines and fur color mutation in the American mink.
Genes, brain, and behavior | 2016-11-01 | PMID 27489198
Kulikov A V, Bazhenova E Y, Kulikova E A and 6 more
Interallelic Transcriptional Enhancement as an in Vivo Measure of Transvection in Drosophila melanogaster.
G3 (Bethesda, Md.) | 2016-10-13 | PMID 27489208
Noble Geoffrey P, Dolph Patrick J, Supattapone Surachai
Amphibious fishes: evolution and phenotypic plasticity.
The Journal of experimental biology | 2016-08-01 | PMID 27489213
Wright Patricia A, Turko Andy J
Ulcerative proctitis is a frequent location of paediatric-onset UC and not a minor disease: a population-based study.
Gut | 2017-11-01 | PMID 27489240
Hochart A, Gower-Rousseau C, Sarter H and 8 more
Genes: TNF
Heritability of Recurrent Exertional Rhabdomyolysis in Standardbred and Thoroughbred Racehorses Derived From SNP Genotyping Data.
The Journal of heredity | 2016-11-01 | PMID 27489252
Norton Elaine M, Mickelson James R, Binns Matthew M and 9 more
Novel Concordance Between Geographic, Environmental, and Genetic Structure in the Ecological Generalist Prickly Sculpin (Cottus asper) in California.
The Journal of heredity | 2016-11-01 | PMID 27489253
Baumsteiger Jason, Kinziger Andrew P, Aguilar Andres
Mutations That Determine Resistance Breaking in a Plant RNA Virus Have Pleiotropic Effects on Its Fitness That Depend on the Host Environment and on the Type, Single or Mixed, of Infection.
Journal of virology | 2016-10-15 | PMID 27489266
Moreno-Pérez Manuel G, García-Luque Isabel, Fraile Aurora and 1 more
Role of the B Allele of Influenza A Virus Segment 8 in Setting Mammalian Host Range and Pathogenicity.
Journal of virology | 2016-10-15 | PMID 27489273
Turnbull Matthew L, Wise Helen M, Nicol Marlynne Q and 17 more
Individualized Molecular Analyses Guide Efforts (IMAGE): A Prospective Study of Molecular Profiling of Tissue and Blood in Metastatic Triple-Negative Breast Cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2017-01-15 | PMID 27489289
Parsons Heather A, Beaver Julia A, Cimino-Mathews Ashley and 27 more
Human Papillomavirus Prevalence Among 88 Male Virgins Residing in Brazil, Mexico, and the United States.
The Journal of infectious diseases | 2016-10-15 | PMID 27489299
Liu Zhiyue, Nyitray Alan G, Hwang Lu-Yu and 9 more
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Journal of medical genetics | 2016-12-01 | PMID 27489308
Mosca Stephen J, Langevin Lisa Marie, Dewey Deborah and 6 more
Genes: DCD, GAP43, PTPRN2, RBFOX1
Phosphatidyl inositol-3 kinase (PIK3CA) E545K mutation confers cisplatin resistance and a migratory phenotype in cervical cancer cells.
Oncotarget | 2016-12-13 | PMID 27489350
Arjumand Wani, Merry Cole D, Wang Chen and 7 more
S18 family of mitochondrial ribosomal proteins: evolutionary history and Gly132 polymorphism in colon carcinoma.
Oncotarget | 2016-08-23 | PMID 27489352
Mushtaq Muhammad, Ali Raja Hashim, Kashuba Vladimir and 2 more
HPV16 E6-E7 induces cancer stem-like cells phenotypes in esophageal squamous cell carcinoma through the activation of PI3K/Akt signaling pathway in vitro and in vivo.
Oncotarget | 2016-08-30 | PMID 27489353
Xi Ruxing, Pan Shupei, Chen Xin and 9 more
Association of the GLB1 rs4678680 genetic variant with risk of HBV-related hepatocellular carcinoma.
Oncotarget | 2016-08-30 | PMID 27489354
Wang Wen-Tao, Li Ziqiang, Shi Meng and 6 more
Genes: GLB1
Notch1 directly induced CD133 expression in human diffuse type gastric cancers.
Oncotarget | 2016-08-30 | PMID 27489358
Konishi Hidetomo, Asano Naoki, Imatani Akira and 9 more
SNVSniffer: an integrated caller for germline and somatic single-nucleotide and indel mutations.
BMC systems biology | 2016-08-01 | PMID 27489955
Liu Yongchao, Loewer Martin, Aluru Srinivas and 1 more
Fzd4 Haploinsufficiency Delays Retinal Revascularization in the Mouse Model of Oxygen Induced Retinopathy.
PloS one | 2016-01-01 | PMID 27489958
Ngo Michael H, Borowska-Fielding Joanna, Heathcote Godfrey and 4 more
Genes: FZD4
Analysis of the Resistance of Hepatitis C Virus NS5B Polymerase Inhibitors via Docking and Molecular Dynamics Simulation.
Molecular informatics | 2015-02-01 | PMID 27490030
Uengwetwanit Tanaporn, Robaa Dina, Sippl Wolfgang
Lentiviral HSV-Tk.007-mediated suicide gene therapy is not toxic for normal brain cells.
The journal of gene medicine | 2016-09-01 | PMID 27490042
Hossain Jubayer A, Ystaas Lars Rømo, Mrdalj Jelena and 6 more
Human spermatogonial stem cells display limited proliferation in vitro under mouse spermatogonial stem cell culture conditions.
Fertility and sterility | 2016-11-01 | PMID 27490045
Medrano Jose V, Rombaut Charlotte, Simon Carlos and 2 more
Genes: EPCAM, EGF, GDNF, LIF, UTF1
Human Papillomavirus Types Involved in External Genital Warts in a Group of Argentinian Women in Buenos Aires.
Journal of lower genital tract disease | 2016-10-01 | PMID 27490078
Fleider Laura Alicia, Tatti Silvio Alejandro, Suzuki Andrea Verónica and 4 more
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Genetics in medicine : official journal of the American College of Medical Genetics | 2017-04-01 | PMID 27490115
Baetens Dorien, Stoop Hans, Peelman Frank and 7 more
Genes: SRY, FOXL2, MAMLD1, SOX9
Leveraging Methylome-Environment Interaction to Detect Genetic Determinants of Disease.
Human heredity | 2016-01-01 | PMID 27490128
Slade Emily, Kraft Peter
Is There a Genetic Predisposition to Frozen Shoulder?: A Systematic Review and Meta-Analysis.
JBJS reviews | 2016-02-23 | PMID 27490134
Prodromidis Apostolos D, Charalambous Charalambos P
Single Nucleotide Polymorphism Clustering in Systemic Autoimmune Diseases.
PloS one | 2016-01-01 | PMID 27490238
Charlon Thomas, Martínez-Bueno Manuel, Bossini-Castillo Lara and 6 more
KIR and HLA Genotypes Implicated in Reduced Killer Lymphocytes Immunity Are Associated with Vogt-Koyanagi-Harada Disease.
PloS one | 2016-01-01 | PMID 27490240
Levinson Ralph D, Yung Madeline, Meguro Akira and 5 more
Prevalence and Phylogenetic Analysis of Human Bocaviruses 1-4 in Pediatric Patients with Various Infectious Diseases.
PloS one | 2016-01-01 | PMID 27490242
Zhao Min, Zhu Runan, Qian Yuan and 7 more
The association of dopamine pathway gene score, nicotine dependence and smoking cessation in a rural male population of Shandong, China.
The American journal on addictions | 2016-09-01 | PMID 27490263
Li Suyun, Wang Qiang, Pan Lulu and 6 more
Genes: COMT, DRD2, DRD4
Pharmacogenetics of cystic fibrosis treatment.
Pharmacogenomics | 2016-08-01 | PMID 27490265
Carter Suzanne C, McKone Edward F
Genes: CFTR
A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population.
PloS one | 2016-01-01 | PMID 27490348
Downie Jonathan M, Tashi Tsewang, Lorenzo Felipe Ramos and 5 more
High Resolution Genomic Scans Reveal Genetic Architecture Controlling Alcohol Preference in Bidirectionally Selected Rat Model.
PLoS genetics | 2016-08-01 | PMID 27490364
Lo Chiao-Ling, Lossie Amy C, Liang Tiebing and 5 more
Associations between functional FCGR2A R131H and FCGR3A F158V polymorphisms and responsiveness to TNF blockers in spondyloarthropathy, psoriasis and Crohn's disease: a meta-analysis.
Pharmacogenomics | 2016-08-01 | PMID 27490376
Lee Young Ho, Choi Sung Jae, Ji Jong Dae and 1 more
Genes: TNF
Genetic diversity and association analysis of leafminer (Liriomyza langei) resistance in spinach (Spinacia oleracea).
Genome | 2016-08-01 | PMID 27490441
Shi Ainong, Mou Beiquan
A humanized osteopontin mouse model and its application in immunometabolic obesity studies.
Translational research : the journal of laboratory and clinical medicine | 2016-12-01 | PMID 27490454
Grün Nicole G, Zeyda Karina, Moreno-Viedma Veronica and 4 more
Genes: SPP1
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
eLife | 2016-08-04 | PMID 27490483
Demircioglu F Esra, Sosa Brian A, Ingram Jessica and 2 more
Lollipops in the Clinic: Information Dense Mutation Plots for Precision Medicine.
PloS one | 2016-01-01 | PMID 27490490
Jay Jeremy J, Brouwer Cory
Correlation of CpG Island Methylation of the Cytochrome P450 2E1/2D6 Genes with Liver Injury Induced by Anti-Tuberculosis Drugs: A Nested Case-Control Study.
International journal of environmental research and public health | 2016-08-01 | PMID 27490558
Zhang Jinling, Zhu Xuebin, Li Yuhong and 6 more
Selective Membrane Redistribution and Depletion of Gαq-Protein by Pasteurella multocida Toxin.
Toxins | 2016-08-01 | PMID 27490568
Clemons Nathan C, Luo Shuhong, Ho Mengfei and 1 more
High-quality full-length immunoglobulin profiling with unique molecular barcoding.
Nature protocols | 2016-09-01 | PMID 27490633
Turchaninova M A, Davydov A, Britanova O V and 14 more
Single nucleotide polymorphisms in an intergenic chromosome 2q region associated with tissue factor pathway inhibitor plasma levels and venous thromboembolism.
Journal of thrombosis and haemostasis : JTH | 2016-10-01 | PMID 27490645
Dennis J, Truong V, Aïssi D and 12 more
Genes: TFPI
Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies.
Current opinion in neurology | 2016-10-01 | PMID 27490667
Vissing John
Mutational Biases Drive Elevated Rates of Substitution at Regulatory Sites across Cancer Types.
PLoS genetics | 2016-08-01 | PMID 27490693
Kaiser Vera B, Taylor Martin S, Semple Colin A
Genes: CTCF
Fast Diagnostics of BRAF Mutations in Biopsies from Malignant Melanoma.
Nano letters | 2016-09-14 | PMID 27490749
Huber François, Lang Hans Peter, Glatz Katharina and 3 more
Genes: BRAF
Longitudinal Patterns of Glycemic Control and Blood Pressure in Pregnant Women with Type 1 Diabetes Mellitus: Phenotypes from Functional Data Analysis.
American journal of perinatology | 2016-11-01 | PMID 27490775
Szczesniak Rhonda D, Li Dan, Duan Leo L and 3 more
Human Management of a Wild Plant Modulates the Evolutionary Dynamics of a Gene Determining Recessive Resistance to Virus Infection.
PLoS genetics | 2016-08-01 | PMID 27490800
Poulicard Nils, Pacios Luis Fernández, Gallois Jean-Luc and 2 more
Limited Genetic Connectivity between Gorgonian Morphotypes along a Depth Gradient.
PloS one | 2016-01-01 | PMID 27490900
Costantini Federica, Gori Andrea, Lopez-González Pablo and 4 more
Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2.
PLoS genetics | 2016-08-01 | PMID 27490902
Hartford Suzanne A, Chittela Rajanikant, Ding Xia and 7 more
Genes: BRCA2, PALB2
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
PloS one | 2016-01-01 | PMID 27490946
Visschedijk Marijn C, Alberts Rudi, Mucha Soren and 18 more
Genes: MUC2
A double-mutant collection targeting MAP kinase related genes in Arabidopsis for studying genetic interactions.
The Plant journal : for cell and molecular biology | 2016-12-01 | PMID 27490954
Su Shih-Heng, Krysan Patrick J
Vitamin D Receptor Gene Polymorphism and Smoking in the Risk of Chronic Periodontitis.
Journal of periodontology | 2016-11-01 | PMID 27491013
Chantarangsu Soranun, Sura Thanyachai, Mongkornkarn Sanutm and 2 more
Genes: VDR
A knockin mouse model for human ATP4aR703C mutation identified in familial gastric neuroendocrine tumors recapitulates the premalignant condition of the human disease and suggests new therapeutic strategies.
Disease models & mechanisms | 2016-09-01 | PMID 27491072
Calvete Oriol, Varro Andrea, Pritchard D Mark and 9 more
Autocrine IL-10 activation of the STAT3 pathway is required for pathological macrophage differentiation in polycystic kidney disease.
Disease models & mechanisms | 2016-09-01 | PMID 27491076
Peda Jacqueline D, Salah Sally M, Wallace Darren P and 4 more
Genes: STAT3
A high-fat jelly diet restores bioenergetic balance and extends lifespan in the presence of motor dysfunction and lumbar spinal cord motor neuron loss in TDP-43A315T mutant C57BL6/J mice.
Disease models & mechanisms | 2016-09-01 | PMID 27491077
Coughlan Karen S, Halang Luise, Woods Ina and 1 more
Genes: SOD1
Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis.
Archives of oral biology | 2016-11-01 | PMID 27491081
Haddaji Mastouri Marwa, De Coster Peter, Zaghabani Aicha and 5 more
Genes: PAX9, MSX1, AXIN2
Loss of vhl in the zebrafish pronephros recapitulates early stages of human clear cell renal cell carcinoma.
Disease models & mechanisms | 2016-08-01 | PMID 27491085
Noonan Haley R, Metelo Ana M, Kamei Caramai N and 3 more
Genes: VHL, EPAS1
Types A and B Niemann-Pick Disease.
Pediatric endocrinology reviews : PER | 2016-06-01 | PMID 27491215
Schuchman Edward H, Wasserstein Melissa P
Genes: SMPD1
Insights into the Pathogenesis and Treatment of Krabbe Disease.
Pediatric endocrinology reviews : PER | 2016-06-01 | PMID 27491217
Bongarzone Ernesto Roque, Escolar Maria Luisa, Gray Steven James and 3 more
Genes: GALC
Phylogeny of tick-derived Crimean-Congo hemorrhagic fever virus strains in Iran.
Ticks and tick-borne diseases | 2016-10-01 | PMID 27491289
Biglari Peyvand, Chinikar Sadegh, Belqeiszadeh Hamid and 7 more
Ameloblastoma Phenotypes Reflected in Distinct Transcriptome Profiles.
Scientific reports | 2016-08-05 | PMID 27491308
Hu Shijia, Parker Joel, Divaris Kimon and 3 more
Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative for MED12 exon 2 mutations.
Journal of clinical pathology | 2017-03-01 | PMID 27491313
Dzhemlikhanova Lyailya Kh, Efimova Olga A, Osinovskaya Natalia S and 12 more
Genes: COMT, MED12
CYP2E1 polymorphisms and nasopharyngeal carcinoma risk: a meta-analysis.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery | 2017-01-01 | PMID 27491320
Yao Keqing, Qin Haiping, Gong Lili and 2 more
Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations.
Clinical genetics | 2017-04-01 | PMID 27491356
Liang D, Wang Y, Ji X and 12 more
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
The British journal of ophthalmology | 2017-01-01 | PMID 27491360
Tanna Preena, Strauss Rupert W, Fujinami Kaoru and 1 more
Genes: ABCA4
Nociceptin/orphanin FQ receptor gene variation is associated with smoking status in Japanese.
Pharmacogenomics | 2016-08-01 | PMID 27491383
Kasai Shinya, Nishizawa Daisuke, Hasegawa Junko and 4 more
Genes: OPRL1
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
Ophthalmology | 2016-10-01 | PMID 27491397
Boese Erin A, Jain Nieraj, Jia Yali and 8 more
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
Experimental & molecular medicine | 2016-08-05 | PMID 27491411
Kang Hee Gyung, Lee Hyun Kyung, Ahn Yo Han and 15 more
Genes: IQCB1, NPHP1, TMEM67
Clinico-epidemiology and genetic diversity of Salivirus in acute gastroenteritis cases from Pune, Western India: 2007-2011.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2016-10-01 | PMID 27491456
Lasure N, Gopalkrishna V