A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
Journal of Alzheimer's disease : JAD | 2015-01-01 | PMID 25114083
Boutoleau-Bretonnière Claire, Camuzat Agnès, Le Ber Isabelle and 12 more
Genes: SQSTM1
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 6119 of 10600
The interaction of APOE genotype by age in amnestic mild cognitive impairment: a voxel-based morphometric study.
Journal of Alzheimer's disease : JAD | 2015-01-01 | PMID 25114090
Chen Jiu, Shu Hao, Wang Zan and 4 more
Genes: APOE
Tick passage results in enhanced attenuation of Babesia bovis.
Infection and immunity | 2014-10-01 | PMID 25114111
Sondgeroth Kerry S, McElwain Terry F, Ueti Massaro W and 3 more
UDP-N-acetylmuramic acid l-alanine ligase (MurC) inhibition in a tolC mutant Escherichia coli strain leads to cell death.
Antimicrobial agents and chemotherapy | 2014-10-01 | PMID 25114134
Humnabadkar Vaishali, Prabhakar K R, Narayan Ashwini and 8 more
Initiation of rilpivirine, tenofovir and emtricitabine (RPV/TDF/FTC) regimen in 363 patients with virological vigilance assessment in 'real life'.
The Journal of antimicrobial chemotherapy | 2014-12-01 | PMID 25114163
Amiel Corinne, Schneider Veronique, Guessant Sabine and 6 more
Functional and structural characterization of the kinase insert and the carboxy terminal domain in VEGF receptor 2 activation.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 2014-11-01 | PMID 25114179
Manni Sandro, Kisko Kaisa, Schleier Thomas and 2 more
Recent research on the growth plate: Advances in fibroblast growth factor signaling in growth plate development and disorders.
Journal of molecular endocrinology | 2014-08-01 | PMID 25114206
Xie Yangli, Zhou Siru, Chen Hangang and 2 more
Demography, not inheritance, drives phenotypic change in hunted bighorn sheep.
Proceedings of the National Academy of Sciences of the United States of America | 2014-09-09 | PMID 25114219
Traill Lochran W, Schindler Susanne, Coulson Tim
Autophagy protects C. elegans against necrosis during Pseudomonas aeruginosa infection.
Proceedings of the National Academy of Sciences of the United States of America | 2014-08-26 | PMID 25114220
Zou Cheng-Gang, Ma Yi-Cheng, Dai Li-Li and 1 more
Small RNA combination therapy for lung cancer.
Proceedings of the National Academy of Sciences of the United States of America | 2014-08-26 | PMID 25114235
Xue Wen, Dahlman James E, Tammela Tuomas and 13 more
Electron spin changes during general anesthesia in Drosophila.
Proceedings of the National Academy of Sciences of the United States of America | 2014-08-26 | PMID 25114249
Turin Luca, Skoulakis Efthimios M C, Horsfield Andrew P
DELAY OF GERMINATION 1 mediates a conserved coat-dormancy mechanism for the temperature- and gibberellin-dependent control of seed germination.
Proceedings of the National Academy of Sciences of the United States of America | 2014-08-26 | PMID 25114251
Graeber Kai, Linkies Ada, Steinbrecher Tina and 10 more
Human blood BDCA-1 dendritic cells differentiate into Langerhans-like cells with thymic stromal lymphopoietin and TGF-β.
Blood | 2014-10-09 | PMID 25114264
Martínez-Cingolani Carolina, Grandclaudon Maximilien, Jeanmougin Marine and 3 more
Genes: TSLP
Biomarkers of susceptibility to chemical carcinogens: the example of non-Hodgkin lymphomas.
British medical bulletin | 2014-09-01 | PMID 25114269
Kelly Rachel S, Vineis Paolo
Pulmonary function impairment in patients with combined pulmonary fibrosis and emphysema with and without airflow obstruction.
International journal of chronic obstructive pulmonary disease | 2014-01-01 | PMID 25114520
Kitaguchi Yoshiaki, Fujimoto Keisaku, Hanaoka Masayuki and 3 more
Development of positive antinuclear antibodies and rheumatoid factor in systemic juvenile idiopathic arthritis points toward an autoimmune phenotype later in the disease course.
Pediatric rheumatology online journal | 2014-01-01 | PMID 25114627
Hügle Boris, Hinze Claas, Lainka Elke and 2 more
Genes: TNF
Unique pattern of component gene disruption in the NRF2 inhibitor KEAP1/CUL3/RBX1 E3-ubiquitin ligase complex in serous ovarian cancer.
BioMed research international | 2014-01-01 | PMID 25114896
Martinez Victor D, Vucic Emily A, Thu Kelsie L and 3 more
Genes: RBX1, CUL3, KEAP1, NFE2
The trend in distribution of Q223R mutation of leptin receptor gene in amoebic liver abscess patients from North India: a prospective study.
BioMed research international | 2014-01-01 | PMID 25114924
Verma Anil Kumar, Ahuja Vineet, Paul Jaishree
Geodermatophilus poikilotrophi sp. nov.: a multitolerant actinomycete isolated from dolomitic marble.
BioMed research international | 2014-01-01 | PMID 25114928
del Carmen Montero-Calasanz Maria, Hofner Benjamin, Göker Markus and 6 more
The effects of microsatellite selection on linked sequence diversity.
Genome biology and evolution | 2014-07-01 | PMID 25115009
Haasl Ryan J, Johnson Ross C, Payseur Bret A
Genes: MAGI2
Identification of genomic heterogeneity among Lactococcus lactis strains by plasmid profiling, PFGE and 16S rDNA sequence analysis.
Polish journal of microbiology | 2014-01-01 | PMID 25115109
Gunay-Esiyok Ozlem, Akcelik Nefise, Akcelik Mustafa
Molecular analysis of JC polyomavirus genotypes circulating among tribal populations of North-Eastern West Bengal, India.
Polish journal of microbiology | 2014-01-01 | PMID 25115113
Chattaraj Sutanuka, Bhattacharjee Soumen
Alternative genotyping of drug-resistant Mycobacterium tuberculosis strains.
Polish journal of microbiology | 2014-01-01 | PMID 25115121
Antonenko Petro B, Kresyun Valentin I, Antonenko Kate O
Analysis of the Kenyan distance-running phenomenon.
International journal of sports physiology and performance | 2015-04-01 | PMID 25115138
Tucker Ross, Onywera Vincent O, Santos-Concejero Jordan
Pigmentation in Drosophila melanogaster reaches its maximum in Ethiopia and correlates most strongly with ultra-violet radiation in sub-Saharan Africa.
BMC evolutionary biology | 2014-08-13 | PMID 25115161
Bastide Héloïse, Yassin Amir, Johanning Evan J and 1 more
Alternative splicing in osteoclasts and Paget's disease of bone.
BMC medical genetics | 2014-08-14 | PMID 25115182
Klinck Roscoe, Laberge Gino, Bisson Martine and 4 more
Genes: RHOT1, LGALS8, USP4, SQSTM1
Genetic network identifies novel pathways contributing to atherosclerosis susceptibility in the innominate artery.
BMC medical genomics | 2014-08-12 | PMID 25115202
Albright Jody, Quizon Pamela M, Lusis Aldons J and 1 more
KCNJ11 E23K variant is associated with the therapeutic effect of sulphonylureas in Chinese type 2 diabetic patients.
Clinical and experimental pharmacology & physiology | 2014-10-01 | PMID 25115353
Li Qing, Chen Miao, Zhang Rong and 6 more
Genes: KCNJ11
Clinical phenotype network: the underlying mechanism for personalized diagnosis and treatment of traditional Chinese medicine.
Frontiers of medicine | 2014-09-01 | PMID 25115380
Zhou Xuezhong, Li Yubing, Peng Yonghong and 9 more
FGFR1 activation is an escape mechanism in human lung cancer cells resistant to afatinib, a pan-EGFR family kinase inhibitor.
Oncotarget | 2014-08-15 | PMID 25115383
Azuma Koichi, Kawahara Akihiko, Sonoda Kahori and 8 more
Genes: EGFR, FGF2, FGFR1
Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm.
Oncotarget | 2014-08-15 | PMID 25115387
Stenzinger Albrecht, Endris Volker, Pfarr Nicole and 14 more
Genes: ATM, NRAS, APC, IDH2, KRAS, BRAF, KIT, MET
The stress phenotype makes cancer cells addicted to CDT2, a substrate receptor of the CRL4 ubiquitin ligase.
Oncotarget | 2014-08-15 | PMID 25115388
Olivero Martina, Dettori Daniela, Arena Sabrina and 3 more
Genes: CDT1, MET
Nuclear and cytoplasmic p53 suppress cell invasion by inhibiting respiratory complex-I activity via Bcl-2 family proteins.
Oncotarget | 2014-09-30 | PMID 25115399
Kim Eun Mi, Park Jong Kuk, Hwang Sang-Gu and 4 more
Concerted action of target-site mutations and high EPSPS activity in glyphosate-resistant junglerice (Echinochloa colona) from California.
Pest management science | 2015-07-01 | PMID 25115401
Alarcón-Reverte Rocío, García Alejandro, Watson Susan B and 5 more
CYP2C19*17 increases clopidogrel-mediated platelet inhibition but does not alter the pharmacokinetics of the active metabolite of clopidogrel.
Clinical and experimental pharmacology & physiology | 2014-11-01 | PMID 25115434
Pedersen Rasmus Steen, Nielsen Flemming, Stage Tore Bjerregaard and 4 more
Approaches to integrating germline and tumor genomic data in cancer research.
Carcinogenesis | 2014-10-01 | PMID 25115441
Feigelson Heather Spencer, Goddard Katrina A B, Hollombe Celine and 4 more
Association between rs12970134 Near MC4R and adiposity indexes in a homogenous population of Caucasian schoolchildren.
Hormone research in paediatrics | 2014-01-01 | PMID 25115458
Marcovecchio M Loredana, Capanna Rita, D'Adamo Ebe and 5 more
Genes: SDS
X-linked adrenoleukodystrophy: pathogenesis and treatment.
Current neurology and neuroscience reports | 2014-10-01 | PMID 25115486
Engelen Marc, Kemp Stephan, Poll-The Bwee-Tien
Genes: ABCD1
Calreticulin gene mutations in myeloproliferative neoplasms without Janus kinase 2 mutations.
Leukemia & lymphoma | 2015-06-01 | PMID 25115511
Sun Chao, Zhang Sujiang, Li Jianyong
Genes: JAK2
Significance of 5,10-methylenetetrahydrofolate reductase gene variants in acute lymphoblastic leukemia in Indian population: an experimental, computational and meta-analysis.
Leukemia & lymphoma | 2015-05-01 | PMID 25115513
Bellampalli Ravishankara, Phani Nagaraja M, Bhat Kamalakshi G and 5 more
Genes: MTHFR
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
American journal of medical genetics. Part A | 2014-11-01 | PMID 25115524
Mirzaa Ghayda M, Enyedi Laura, Parsons Gretchen and 10 more
Genes: KIF11
Homocysteine and nitrite levels are modulated by MTHFR 677C>T polymorphism in obese women treated with simvastatin.
Clinical and experimental pharmacology & physiology | 2014-10-01 | PMID 25115547
Villela Maria P, Andrade Vanessa L, Eccard Bryelle and 6 more
Genes: MTHFR
Identification and functional characterization of the distinct plant pectin esterases PAE8 and PAE9 and their deletion mutants.
Planta | 2014-11-01 | PMID 25115560
de Souza Amancio, Hull Philip A, Gille Sascha and 1 more
Antagonistic role of CotG and CotH on spore germination and coat formation in Bacillus subtilis.
PloS one | 2014-01-01 | PMID 25115591
Saggese Anella, Scamardella Veronica, Sirec Teja and 6 more
Mutations in microRNA binding sites of CEP genes involved in cancer.
Cell biochemistry and biophysics | 2014-12-01 | PMID 25115610
Gopalakrishnan Chandrasekhar, Kamaraj Balu, Purohit Rituraj
Is rs8099917 polymorphism of IL-28B gene a good predictor of response to therapy of HCV than rs12979860? An Egyptian study.
Cell biochemistry and biophysics | 2015-01-01 | PMID 25115611
Shaker Olfat, Rashad Amal, Abd El Aziz Ghada and 1 more
Placental FKBP5 genetic and epigenetic variation is associated with infant neurobehavioral outcomes in the RICHS cohort.
PloS one | 2014-01-01 | PMID 25115650
Paquette Alison G, Lester Barry M, Koestler Devin C and 3 more
Genes: FKBP5
Mobile elements and chromosomal changes associated with MLS resistance phenotypes of invasive pneumococci recovered in the United States.
Microbial drug resistance (Larchmont, N.Y.) | 2015-04-01 | PMID 25115711
Hawkins Paulina A, Chochua Sopio, Jackson Delois and 2 more
[Brazilian story of the R337H p53 mutation].
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti | 2014-01-01 | PMID 25115713
Smardová J, Koptíková J
Effect of MLH1 -93G>A on gene expression in patients with colorectal cancer.
Medical oncology (Northwood, London, England) | 2014-09-01 | PMID 25115745
Funck Alexandre, Santos Juliana C, Silva-Fernandes Isabelle J L and 3 more
Genes: MLH1
Association between CYP1A2 and CYP1B1 polymorphisms and colorectal cancer risk: a meta-analysis.
PloS one | 2014-01-01 | PMID 25115775
He Xiao-Feng, Wei Jie, Liu Zhi-Zhong and 8 more
Identification and typing of Brucella spp. in stranded harbour porpoises (Phocoena phocoena) on the Dutch coast.
Veterinary microbiology | 2014-09-17 | PMID 25115787
Maio Elisa, Begeman Lineke, Bisselink Yvette and 8 more
Thrombophilic factor analysis in cirrhotic patients with portal vein thrombosis.
Journal of thrombosis and thrombolysis | 2015-07-01 | PMID 25115839
Saugel Bernd, Lee Marcel, Feichtinger Stephanie and 3 more
Genes: JAK2
Bottom-up design of small molecules that stimulate exon 10 skipping in mutant MAPT pre-mRNA.
Chembiochem : a European journal of chemical biology | 2014-09-22 | PMID 25115866
Luo Yiling, Disney Matthew D
Genes: MAPT
Cardiovascular disease-related parameters and oxidative stress in SHROB rats, a model for metabolic syndrome.
PloS one | 2014-01-01 | PMID 25115868
Molinar-Toribio Eunice, Pérez-Jiménez Jara, Ramos-Romero Sara and 10 more
The South Asian genome.
PloS one | 2014-01-01 | PMID 25115870
Chambers John C, Abbott James, Zhang Weihua and 34 more
KIR B haplotype donors confer a reduced risk for relapse after haploidentical transplantation in children with ALL.
Blood | 2014-10-23 | PMID 25115891
Oevermann Lena, Michaelis Sebastian U, Mezger Markus and 7 more
Genes: EFS
Vaniprevir plus peginterferon alfa-2a and ribavirin in treatment-experienced Japanese patients with hepatitis C virus genotype 1 infection: a randomized phase II study.
Journal of gastroenterology | 2015-02-01 | PMID 25115901
Hayashi Norio, Mobashery Niloufar, Izumi Namiki
Macrophage phenotype is associated with disease severity in preterm infants with chronic lung disease.
PloS one | 2014-01-01 | PMID 25115925
Prince Lynne R, Maxwell Nicola C, Gill Sharonjit K and 5 more
No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients.
Journal of neural transmission (Vienna, Austria : 1996) | 2015-05-01 | PMID 25115936
Yoshino Yuta, Mori Yoko, Ochi Shinichiro and 5 more
Phosphorylation at Y1065 in vinculin mediates actin bundling, cell spreading, and mechanical responses to force.
Biochemistry | 2014-09-02 | PMID 25115937
Tolbert Caitlin E, Thompson Peter M, Superfine Richard and 2 more
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.
PloS one | 2014-01-01 | PMID 25116015
Wang Hongyang, Zhao Yali, Yi Yuting and 18 more
Genes: KCNQ4
Association between interleukin-10 promoter gene polymorphisms and acute graft-versus-host disease after hematopoietic stem cell transplantation: a systematic review and meta-analysis.
Hematology (Amsterdam, Netherlands) | 2015-04-01 | PMID 25116082
Cho In Hye, Song Yun Kyoung, Kim Myeong Gyu and 3 more
Changing concepts of diagnostic criteria of myeloproliferative disorders and the molecular etiology and classification of myeloproliferative neoplasms: from Dameshek 1950 to Vainchenker 2005 and beyond.
Acta haematologica | 2015-01-01 | PMID 25116092
Michiels Jan Jacques, Berneman Zwi, Schroyens Wilfried and 1 more
Genes: JAK2, MPL, CALR
Human FcR polymorphism and disease.
Current topics in microbiology and immunology | 2014-01-01 | PMID 25116105
Li Xinrui, Gibson Andrew W, Kimberly Robert P
The conserved PFT1 tandem repeat is crucial for proper flowering in Arabidopsis thaliana.
Genetics | 2014-10-01 | PMID 25116137
Rival Pauline, Press Maximilian O, Bale Jacob and 3 more
Genes: MED25
A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogs.
PloS one | 2014-01-01 | PMID 25116146
Baranowska Körberg Izabella, Sundström Elisabeth, Meadows Jennifer R S and 12 more
Genes: MITF
Characterisation and mapping of gene Lr73 conferring seedling resistance to Puccinia triticina in common wheat.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2014-09-01 | PMID 25116148
Park R F, Mohler V, Nazari K and 1 more
The genetic basis of variation in clean lineages of Saccharomyces cerevisiae in response to stresses encountered during bioethanol fermentations.
PloS one | 2014-01-01 | PMID 25116161
Greetham Darren, Wimalasena Tithira T, Leung Kay and 7 more
Genes: COX20
Aspirin-responsive, migraine-like transient cerebral and ocular ischemic attacks and erythromelalgia in JAK2-positive essential thrombocythemia and polycythemia vera.
Acta haematologica | 2015-01-01 | PMID 25116182
Michiels Jan Jacques, Berneman Zwi, Gadisseur Alain and 3 more
Genes: JAK2
Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.
PloS one | 2014-01-01 | PMID 25116239
Campbell Catarina D, Mohajeri Kiana, Malig Maika and 30 more
Genetic variability in the human cannabinoid receptor 1 is associated with resting state EEG theta power in humans.
Behavioural brain research | 2014-11-01 | PMID 25116250
Heitland I, Kenemans J L, Böcker K B E and 1 more
Metastatic rhabdoid meningioma with BRAF V600E mutation and good response to personalized therapy: case report and review of the literature.
Pediatric hematology and oncology | 2015-04-01 | PMID 25116269
Mordechai Oz, Postovsky Sergey, Vlodavsky Eugene and 5 more
Genes: BRAF, APC
OPN polymorphism is associated with the susceptibility to cervical spondylotic myelopathy and its outcome after anterior cervical corpectomy and fusion.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2014-01-01 | PMID 25116355
Wu Jibin, Wu Dongying, Guo Kaijin and 2 more
Exome sequencing of three cases of familial exceptional longevity.
Aging cell | 2014-12-01 | PMID 25116423
Cash Timothy P, Pita Guillermo, Domínguez Orlando and 11 more
Genes: APOB, ADCY5, APOE, NCOR1, NRG1, RAD51, RAD52
Binding mode analysis of a major T3SS translocator protein PopB with its chaperone PcrH from Pseudomonas aeruginosa.
Proteins | 2014-12-01 | PMID 25116453
Banerjee Anindyajit, Dey Supratim, Chakraborty Abhijit and 4 more
Fgfr1 inactivation in the mouse telencephalon results in impaired maturation of interneurons expressing parvalbumin.
PloS one | 2014-01-01 | PMID 25116473
Smith Karen Müller, Maragnoli Maria Elisabetta, Phull Pooja M and 3 more
Molecular genetic analysis of cucumber mosaic virus populations infecting pepper suggests unique patterns of evolution in Korea.
Phytopathology | 2014-09-01 | PMID 25116642
Kim Mi-Kyeong, Seo Jang-Kyun, Kwak Hae-Ryun and 4 more
Antimicrobial and molecular analysis of Salmonella serovar Livingstone strains isolated from humans in Tunisia and Belgium.
Journal of infection in developing countries | 2014-08-13 | PMID 25116661
Guedda Intissar, Taminiau Bernard, Ferjani Asma and 3 more
Diagnosis and molecular typing of rabies virus in samples stored in inadequate conditions.
Journal of infection in developing countries | 2014-08-13 | PMID 25116668
Beltran Fernando J, Dohmen Federico Gury, Del Pietro Horacio and 1 more
Molecular typing and in vitro antifungal susceptibility of Cryptococcus spp from patients in Midwest Brazil.
Journal of infection in developing countries | 2014-08-13 | PMID 25116671
Favalessa Olivia Cometti, de Paula Daphine Ariadne Jesus, Dutra Valeria and 8 more
Antiretroviral drug resistance and HIV-1 subtypes among treatment-naive prisoners in Kelantan, Malaysia.
Journal of infection in developing countries | 2014-08-13 | PMID 25116676
Ariffin Tengku Ahmad Akram Tengku Mohd, Mohamad Suharni, Yusuf Wan Nazirah Wan and 1 more
Heterosis in early maize ear inflorescence development: a genome-wide transcription analysis for two maize inbred lines and their hybrid.
International journal of molecular sciences | 2014-08-11 | PMID 25116687
Ding Haiping, Qin Cheng, Luo Xirong and 10 more
Genome-wide genotype and sequence-based reconstruction of the 140,000 year history of modern human ancestry.
Scientific reports | 2014-08-13 | PMID 25116736
Shriner Daniel, Tekola-Ayele Fasil, Adeyemo Adebowale and 1 more
Neuropathic pain in two-generation twins carrying the sodium channel Nav1.7 functional variant R1150W.
Pain | 2014-10-01 | PMID 25116815
Harrer Judith U, Uçeyler Nurcan, Doppler Kathrin and 4 more
Testing the accuracy of an observation-based classifier for rapid detection of autism risk.
Translational psychiatry | 2014-08-12 | PMID 25116834
Duda M, Kosmicki J A, Wall D P
Whole genome sequencing indicates Corynebacterium jeikeium comprises 4 separate genomospecies and identifies a dominant genomospecies among clinical isolates.
International journal of medical microbiology : IJMM | 2014-11-01 | PMID 25116839
Salipante Stephen J, Sengupta Dhruba J, Cummings Lisa A and 4 more
Aggression and social experience: genetic analysis of visual circuit activity in the control of aggressiveness in Drosophila.
Molecular brain | 2014-08-13 | PMID 25116850
Ramin Mahmoudreza, Domocos Claudiu, Slawaska-Eng David and 1 more
Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population.
Breast cancer research : BCR | 2014-08-14 | PMID 25116933
Wang Yanru, He Yisha, Qin Zhenzhen and 8 more
Genes: ESR1
Crossover localisation is regulated by the neddylation posttranslational regulatory pathway.
PLoS biology | 2014-08-01 | PMID 25116939
Jahns Marina Tagliaro, Vezon Daniel, Chambon Aurélie and 5 more
GFS9/TT9 contributes to intracellular membrane trafficking and flavonoid accumulation in Arabidopsis thaliana.
The Plant journal : for cell and molecular biology | 2014-11-01 | PMID 25116949
Ichino Takuji, Fuji Kentaro, Ueda Haruko and 8 more
Adaptive evolution and environmental durability jointly structure phylodynamic patterns in avian influenza viruses.
PLoS biology | 2014-08-01 | PMID 25116957
Roche Benjamin, Drake John M, Brown Justin and 3 more
Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.
Hamostaseologie | 2014-01-01 | PMID 25117010
Sánchez-Guiu I, Torregrosa J M, Velasco F and 4 more
Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.
Brain pathology (Zurich, Switzerland) | 2015-07-01 | PMID 25117056
Vernau Karen, Napoli Eleonora, Wong Sarah and 6 more
Genes: SLC19A3
Genetic variations of CAV1 gene contribute to HCC risk: a case-control study.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-11-01 | PMID 25117072
Zhao Xixue, Pan Guozheng, Yuan Qingzhong and 5 more
Genes: CAV1
Polymorphism in interleukin 21 gene is associated with decreased susceptibility to diffuse large B cell lymphoma.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-11-01 | PMID 25117075
Li Jie, Mai Junjie
Associations of single nucleotide polymorphisms related to insulin resistance with polycystic ovary syndrome.
Annals of clinical and laboratory science | 2014-01-01 | PMID 25117097
Woo Hee-Yeon, Kim Kye-Hyun, Lee Seung-Tae and 2 more
Role of apolipoprotein AI gene polymorphism (G-75A and C+83T) in essential hypertension in Indian population.
Annals of clinical and laboratory science | 2014-01-01 | PMID 25117102
Sinha Rupal, Singh Ritu
Influence of iron regulating genes mutations on iron status in Egyptian patients with sickle cell disease.
Annals of clinical and laboratory science | 2014-01-01 | PMID 25117103
Abdel Rahman Hala A, Abou-Elew Heba H, El-Shorbagy Reem M and 2 more
Genes: HAMP, HFE, SCD
Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.
Annals of clinical and laboratory science | 2014-01-01 | PMID 25117105
Choi Hyun-Jung, Bang Hae In, Ki Chang-Seok and 7 more
Genes: FAH