Single-cell sequencing reveals the origin and the order of mutation acquisition in T-cell acute lymphoblastic leukemia.
Leukemia | 2018-06-01 | PMID 29740158
De Bie Jolien, Demeyer Sofie, Alberti-Servera Llucia and 10 more
Genes: MED12, NOTCH1
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 7762 of 10600
Gain-of-function mutations in DNMT3A in patients with paraganglioma.
Genetics in medicine : official journal of the American College of Medical Genetics | 2018-12-01 | PMID 29740169
Remacha Laura, Currás-Freixes Maria, Torres-Ruiz Raúl and 23 more
Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™).
Genetics in medicine : official journal of the American College of Medical Genetics | 2019-01-01 | PMID 29740170
Bellcross Cecelia, Hermstad April, Tallo Christine and 1 more
Genes: BRCA1
Rett syndrome: insights into genetic, molecular and circuit mechanisms.
Nature reviews. Neuroscience | 2018-06-01 | PMID 29740174
Ip Jacque P K, Mellios Nikolaos, Sur Mriganka
Genetic alterations analysis in prognostic stratified groups identified TP53 and ARID1A as poor clinical performance markers in intrahepatic cholangiocarcinoma.
Scientific reports | 2018-05-08 | PMID 29740198
Simbolo Michele, Vicentini Caterina, Ruzzenente Andrea and 15 more
Genes: MET, PTEN
Development of tenofovir disoproxil fumarate resistance after complete viral suppression in a patient with treatment-naïve chronic hepatitis B: A case report and review of the literature.
World journal of gastroenterology | 2018-05-07 | PMID 29740207
Cho Woo Hee, Lee Hyun Jae, Bang Ki Bae and 2 more
Modulation of Dengue/Zika Virus Pathogenicity by Antibody-Dependent Enhancement and Strategies to Protect Against Enhancement in Zika Virus Infection.
Frontiers in immunology | 2018-01-01 | PMID 29740424
Khandia Rekha, Munjal Ashok, Dhama Kuldeep and 5 more
Genes: NOS2, STAT1
High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B.
Frontiers in immunology | 2018-01-01 | PMID 29740447
Pouw Richard B, Gómez Delgado Irene, López Lera Alberto and 4 more
Genes: CFHR3, CFH, CFHR1
Improved de novo genomic assembly for the domestic donkey.
Science advances | 2018-04-01 | PMID 29740610
Renaud Gabriel, Petersen Bent, Seguin-Orlando Andaine and 8 more
Real-world virological efficacy and safety of elbasvir and grazoprevir in patients with chronic hepatitis C virus genotype 1 infection in Japan.
Journal of gastroenterology | 2018-12-01 | PMID 29740665
Toyoda Hidenori, Atsukawa Masanori, Takaguchi Koichi and 30 more
CsMYB36 is involved in the formation of yellow green peel in cucumber (Cucumis sativus L.).
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2018-08-01 | PMID 29740668
Hao Ning, Du Yalin, Li Huiyuan and 5 more
Differential expression of salt-responsive genes to salinity stress in salt-tolerant and salt-sensitive rice (Oryza sativa L.) at seedling stage.
Protoplasma | 2018-11-01 | PMID 29740721
Singh Vijayata, Singh Ajit Pal, Bhadoria Jyoti and 4 more
Genes: SOS1
Regulation of myostatin expression is associated with growth and muscle development in commercial broiler and DMC muscle.
Molecular biology reports | 2018-08-01 | PMID 29740785
Dou Tengfei, Li Zhengtian, Wang Kun and 14 more
Focal segmental glomerulosclerosis with heterozygous apolipoprotein E5 (Glu3Lys).
CEN case reports | 2018-11-01 | PMID 29740794
Sasaki Masaru, Yasuno Tetsuhiko, Ito Kenji and 7 more
Colorectal Cancer Screening: Preferences, Past Behavior, and Future Intentions.
The patient | 2018-12-01 | PMID 29740804
Mansfield Carol, Ekwueme Donatus U, Tangka Florence K L and 5 more
Genetic diversity and sex ratio of naked mole rat, Heterocephalus glaber, zoo populations.
Zoo biology | 2018-05-01 | PMID 29740857
Chau Linh M, Groh Amy M, Anderson Emily C and 7 more
Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work.
The Journal of dermatology | 2018-07-01 | PMID 29740858
Zheng Li-Yun, Lee Yu-Wei, Han Yang and 8 more
Genes: TSC1, TSC2
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Annals of neurology | 2018-06-01 | PMID 29740868
Ambrosino Paolo, Soldovieri Maria Virginia, Bast Thomas and 10 more
Genes: KCNT2, KCNT1
Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.
Brain pathology (Zurich, Switzerland) | 2018-05-01 | PMID 29740943
Bugiani Marianna, Vuong Caroline, Breur Marjolein and 1 more
Astrocytes, an active player in Aicardi-Goutières syndrome.
Brain pathology (Zurich, Switzerland) | 2018-05-01 | PMID 29740948
Sase Sunetra, Takanohashi Asako, Vanderver Adeline and 1 more
Genes: IFIH1, SAMHD1, TREX1
The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
American journal of medical genetics. Part A | 2018-07-01 | PMID 29740950
Petersen Andrea Klunder, Streff Haley, Tokita Mari and 1 more
Genes: CHD2
[Phenotypic variations in cones and seeds of natural Cupressus chengiana populations in China].
Ying yong sheng tai xue bao = The journal of applied ecology | 2017-03-18 | PMID 29740999
Feng Qiu Hong, Shi Zuo Min, Xu Zheng Jing-Ru and 4 more
[Genetic diversity and phylogenetic analysis of Fusarium oxysporium strains isolated from the Cucurbitaceae hosts revealed by SRAPs].
Ying yong sheng tai xue bao = The journal of applied ecology | 2017-03-18 | PMID 29741024
Tian Ye Han, Hou Yuan Yuan, Peng Cai Yun and 3 more
Identification of candidate genes for blood metabolites in Iranian chickens using a genome-wide association study.
British poultry science | 2018-08-01 | PMID 29741100
Javanrouh-Aliabad A, Vaez Torshizi R, Masoudi A A and 1 more
XPF polymorphism toward lung cancer susceptibility and survival in patients treated with platinum-based chemotherapy.
Future oncology (London, England) | 2018-05-01 | PMID 29741112
Lawania Shweta, Sharma Siddharth, Singh Navneet and 1 more
Tandem Mass Spectrometric Cell Wall Proteome Profiling of a Candida albicans hwp2 Mutant Strain.
Current molecular pharmacology | 2018-01-01 | PMID 29741145
Awad Andy, El Khoury Pamela, Wex Brigitte and 1 more
Genetic generalized epilepsies.
Epilepsia | 2018-06-01 | PMID 29741207
Mullen Saul A, Berkovic Samuel F
Phenotypic heterogeneity of obesity-related brain vulnerability: one-size interventions will not fit all.
Annals of the New York Academy of Sciences | 2018-09-01 | PMID 29741211
Haley Andreana P, Oleson Stephanie, Pasha Evan and 4 more
High-throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders.
International journal of laboratory hematology | 2018-05-01 | PMID 29741246
Heremans J, Freson K
Acute myeloid leukaemia: How to combine multiple tools.
International journal of laboratory hematology | 2018-05-01 | PMID 29741260
Merino A, Boldú L, Ermens A
Genetic basis of congenital erythrocytosis.
International journal of laboratory hematology | 2018-05-01 | PMID 29741264
Bento C
Genes: EPO, BPGM, EPOR, HBA1, HBA2, HBB, VHL
Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant.
ESC heart failure | 2018-08-01 | PMID 29741282
Paller Mark S, Martin Cindy M, Pierpont Mary Ella
Genes: LMNA
Genetic literacy series: Primer part 2-Paradigm shifts in epilepsy genetics.
Epilepsia | 2018-06-01 | PMID 29741288
Helbig Ingo, Heinzen Erin L, Mefford Heather C
[Genetic structure of Hemibarbus labeo and Hemibarbus medius in South China based on mtDNA COI and ND5 genes].
Ying yong sheng tai xue bao = The journal of applied ecology | 2017-04-18 | PMID 29741337
Lan Zhao Jun, Lin Long Feng, Zhao Jun
[Molecular typing methods for Pasteurella multocida-A review].
Wei sheng wu xue bao = Acta microbiologica Sinica | 2016-10-04 | PMID 29741340
Peng Zhong, Liang Wan, Wu Bin
CXCL12 and CXCR4 polymorphisms and expressions in peripheral blood from patients of hepatocellular carcinoma.
Future oncology (London, England) | 2018-06-01 | PMID 29741398
Qin Li-Feng, Qin Jin-Mei, Zhang Ji-Qiao and 3 more
Genes: CXCL12, CXCR4
Overexpression of Fn14 in gliomas: tumor progression and poor prognosis.
Future oncology (London, England) | 2018-06-01 | PMID 29741404
Tan Dan, Pang Feng-Mei, Li Dan and 5 more
Genes: IDH1, IDH2
Biomarkers for severe allergic asthma in children: could they be useful to guide disease control and use of omalizumab?
Expert review of respiratory medicine | 2018-06-01 | PMID 29741411
Amat Flore, Labbé André
Inter-individual variation in imatinib disposition: any role for prevalent variants of CYP1A2, CYP2C8, CYP2C9, and CYP3A5 in Nigerian CML patients?
Leukemia & lymphoma | 2019-01-01 | PMID 29741432
Adehin Ayorinde, Adeagbo Babatunde A, Kennedy Martin A and 4 more
Complications, risk factors, and patients-reported outcomes after skin-sparing mastectomy followed by breast reconstruction in women with BRCA mutations.
Journal of plastic surgery and hand surgery | 2018-08-01 | PMID 29741462
Moberg Ingvild O, Schou Bredal Inger, Schneider Michael R and 2 more
Volatile Compounds Emitted by Diverse Verticillium Species Enhance Plant Growth by Manipulating Auxin Signaling.
Molecular plant-microbe interactions : MPMI | 2018-10-01 | PMID 29741467
Li Ningxiao, Wang Wenzhao, Bitas Vasileios and 3 more
ALK immunohistochemistry is highly sensitive and specific for the detection of ALK translocated lung adenocarcinomas: lessons from an audit of lung cancer molecular testing.
The journal of the Royal College of Physicians of Edinburgh | 2018-03-01 | PMID 29741520
Kheng Y C, Walsh K, Williams L and 3 more
Genes: ALK, EGFR, KRAS
Translating GWAS in rheumatic disease: approaches to establishing mechanism and function for genetic associations with ankylosing spondylitis.
Briefings in functional genomics | 2018-09-27 | PMID 29741584
Osgood Julie A, Knight Julian C
Phenotype and Clinical Course of Inflammatory Bowel Disease With Co-existent Celiac Disease.
Journal of Crohn's & colitis | 2018-07-30 | PMID 29741603
Tse Chung Sang, Deepak Parakkal, De La Fuente Jaime and 4 more
A systematic review of genome-wide research on psychotic experiences and negative symptom traits: new revelations and implications for psychiatry.
Human molecular genetics | 2018-08-01 | PMID 29741616
Ronald Angelica, Pain Oliver
Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.
Human molecular genetics | 2018-08-01 | PMID 29741619
Lim Jong-Won, Wong Chao-Jen, Yao Zizhen and 5 more
Genes: DUX4, SMCHD1
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
Human molecular genetics | 2018-08-15 | PMID 29741626
de Vos Ivo J H M, Tao Evelyn Yaqiong, Ong Sheena Li Ming and 16 more
Genes: MMP14
Genetic parameters of methane emissions determined using portable accumulation chambers in lambs and ewes grazing pasture and genetic correlations with emissions determined in respiration chambers.
Journal of animal science | 2018-07-28 | PMID 29741677
Jonker Arjan, Hickey Sharon M, Rowe Suzanne J and 14 more
African genetic diversity provides novel insights into evolutionary history and local adaptations.
Human molecular genetics | 2018-08-01 | PMID 29741686
Choudhury Ananyo, Aron Shaun, Sengupta Dhriti and 2 more
Genomic prediction using different estimation methodology, blending and cross-validation techniques for growth traits and visual scores in Hereford and Braford cattle.
Journal of animal science | 2018-06-29 | PMID 29741705
Campos Gabriel Soares, Reimann Fernando Antônio, Cardoso Leandro Lunardini and 8 more
Direct and maternal breed additive and heterosis effects on growth traits of beef cattle raised in southern Brazil.
Journal of animal science | 2018-06-29 | PMID 29741708
Leal Willian S, MacNeil Michael D, Carvalho Henry Gomes and 2 more
Expression of GRIM-19 in unexplained recurrent spontaneous abortion and possible pathogenesis.
Molecular human reproduction | 2018-07-01 | PMID 29741731
Yang Yang, Cheng Laiyang, Deng Xiaohui and 2 more
Photosynthesis and carbon allocation are both important predictors of genotype productivity responses to elevated CO2 in Eucalyptus camaldulensis.
Tree physiology | 2018-09-01 | PMID 29741732
Aspinwall Michael J, Blackman Chris J, de Dios Víctor Resco and 8 more
Genetic and Epigenetic Features of Rapidly Progressing IDH-Mutant Astrocytomas.
Journal of neuropathology and experimental neurology | 2018-07-01 | PMID 29741737
Richardson Timothy E, Sathe Adwait Amod, Kanchwala Mohammed and 6 more
Genes: APC, FANCB
Skewed megakaryopoiesis in human induced pluripotent stem cell-derived haematopoietic progenitor cells harbouring calreticulin mutations.
British journal of haematology | 2018-06-01 | PMID 29741776
Takei Hiraku, Edahiro Yoko, Mano Shuichi and 13 more
Genes: CALR, MPL, GATA1, GATA2, JAK2
Genetically determined pattern of left ventricular function in normal and hypertensive hearts.
Journal of clinical hypertension (Greenwich, Conn.) | 2018-05-01 | PMID 29741807
Kovács Attila, Molnár Andrea Ágnes, Kolossváry Márton and 11 more
Genes: GLS
[Construction and characterization of hemolysin S gene mutant strain producing hyaluronic acid].
Wei sheng wu xue bao = Acta microbiologica Sinica | 2016-11-04 | PMID 29741839
Liu Yuchuan, Li Yuxing, Lai Yongqin and 4 more
Genes: SDS
[A novel phylogenetic lineage clustered by NIa gene of Sugarcane streak mosaic virus Yunnan isolates].
Wei sheng wu xue bao = Acta microbiologica Sinica | 2016-11-04 | PMID 29741844
He Zhen, Li Wenfeng, Li Shifang
[Characterization of phenotype and expression regulation of an RND-type multidrug efflux pump in Mesorhizobium huakuii 7653R].
Wei sheng wu xue bao = Acta microbiologica Sinica | 2016-12-04 | PMID 29741853
Liu Ziling, Peng Jieli, Li Youguo
Genes: SDS
[Construction of SPA7074-deficient mutant of biocontrol strain Streptomyces pactum Act12 and characterization of its secondary metabolites].
Wei sheng wu xue bao = Acta microbiologica Sinica | 2016-12-04 | PMID 29741854
Duan Xuemei, Zhao Feiyang, Yan Xia and 5 more
[Cloning, mutagenesis and symbiotic phenotype of three lipid transfer protein encoding genes from Mesorhizobium huakuii 7653R].
Wei sheng wu xue bao = Acta microbiologica Sinica | 2016-12-04 | PMID 29741859
Li Yanan, Zeng Xiaobo, Zhou Xuejuan and 1 more
Genes: RHO
Development of a novel explant culture method for the isolation of mesenchymal stem cells from human breast tumor.
Journal of immunoassay & immunochemistry | 2018-01-01 | PMID 29741994
Sineh Sepehr Koushan, Razavi Alireza, Saeidi Mohsen and 3 more
The V-ATPase V1 subunit A1 is required for rhodopsin anterograde trafficking in Drosophila.
Molecular biology of the cell | 2018-07-01 | PMID 29742016
Zhao Haifang, Wang Jing, Wang Tao
Clinical and Drug Resistance Characteristics of New Pediatric Tuberculosis Cases in Northern China.
Microbial drug resistance (Larchmont, N.Y.) | 2018-11-01 | PMID 29742052
Wang Ting, Dong Fang, Li Qin-Jing and 5 more
Genes: DST
The receptor protein tyrosine phosphatase CLR-1 is required for synaptic partner recognition.
PLoS genetics | 2018-05-01 | PMID 29742100
Varshney Aruna, Benedetti Kelli, Watters Katherine and 14 more
Genes: SPR, DCC
White matter hyperintensities and the mediating role of cerebral amyloid angiopathy in dominantly-inherited Alzheimer's disease.
PloS one | 2018-01-01 | PMID 29742105
Lee Seonjoo, Zimmerman Molly E, Narkhede Atul and 29 more
Effect of single-dose imipramine on chronic low-back and experimental pain. A randomized controlled trial.
PloS one | 2018-01-01 | PMID 29742109
Schliessbach Jürg, Siegenthaler Andreas, Bütikofer Lukas and 6 more
Opening the file drawer: Unexpected insights from a chytrid infection experiment.
PloS one | 2018-01-01 | PMID 29742111
Byrne Allison Q, Poorten Thomas J, Voyles Jamie and 2 more
Amelioration of Huntington's disease phenotypes by Beta-Lapachone is associated with increases in Sirt1 expression, CREB phosphorylation and PGC-1α deacetylation.
PloS one | 2018-01-01 | PMID 29742127
Lee Mijung, Ban Jae-Jun, Chung Jin-Young and 2 more
Genes: PGC
Genetic characterization of indigenous goat breeds in Romania and Hungary with a special focus on genetic resistance to mastitis and gastrointestinal parasitism based on 40 SNPs.
PloS one | 2018-01-01 | PMID 29742137
Ilie Daniela Elena, Kusza Szilvia, Sauer Maria and 1 more
Genes: SOCS3, FST, MAF, PTX3, TLR3, TNF, TNFSF13
The IL7RA rs6897932 polymorphism is associated with progression of liver fibrosis in patients with chronic hepatitis C: Repeated measurements design.
PloS one | 2018-01-01 | PMID 29742149
Jiménez-Sousa María Ángeles, Gómez-Moreno Ana Zaida, Pineda-Tenor Daniel and 8 more
Genetic diversity and virulence profiles of Listeria monocytogenes recovered from bulk tank milk, milk filters, and milking equipment from dairies in the United States (2002 to 2014).
PloS one | 2018-01-01 | PMID 29742151
Kim Seon Woo, Haendiges Julie, Keller Eric N and 6 more
Genes: LIPI
Canine leishmaniasis: Genome-wide analysis and antibody response to Lutzomyia longipalpis saliva.
PloS one | 2018-01-01 | PMID 29742167
Batista Luís F S, Utsunomiya Yuri T, Silva Thaís B F and 11 more
Genes: MITF
Therapeutic advances in 5q-linked spinal muscular atrophy.
Arquivos de neuro-psiquiatria | 2018-04-01 | PMID 29742241
Reed Umbertina Conti, Zanoteli Edmar
Genes: SMN1, SMN2
Study of promoter hypomethylation profiles of RAS oncogenes in hepatocellular carcinoma derived from hepatitis C virus genotype 3a in Pakistani population.
Journal of medical virology | 2018-09-01 | PMID 29742286
Maryam Maria, Idrees Muhammad
Genes: NRAS, HRAS, KRAS
The genetic and molecular pathogenesis of myelodysplastic syndromes.
European journal of haematology | 2018-09-01 | PMID 29742289
Shallis Rory M, Ahmad Rami, Zeidan Amer M
Transcriptomic analysis of skin pigmentation variation in the Virginia opossum (Didelphis virginiana).
Molecular ecology | 2018-06-01 | PMID 29742302
Nigenda-Morales Sergio F, Hu Yibo, Beasley James C and 3 more
Plasticity and evolutionary divergence in gene expression associated with alternative habitat use in larvae of the European Fire Salamander.
Molecular ecology | 2018-06-01 | PMID 29742304
Czypionka Till, Goedbloed Daniel J, Steinfartz Sebastian and 1 more
RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.
Cell reports | 2018-05-08 | PMID 29742418
Bustos Francisco, Segarra-Fas Anna, Chaugule Viduth K and 8 more
Genes: RLIM
Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome.
Cell reports | 2018-05-08 | PMID 29742419
Alupei Marius Costel, Maity Pallab, Esser Philipp Ralf and 9 more
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice.
Cell reports | 2018-05-08 | PMID 29742424
Jorge-Torres Olga C, Szczesna Karolina, Roa Laura and 14 more
A Glutamate Homeostat Controls the Presynaptic Inhibition of Neurotransmitter Release.
Cell reports | 2018-05-08 | PMID 29742428
Li Xiling, Goel Pragya, Wondolowski Joyce and 2 more
Manipulation of Mitochondria Dynamics Reveals Separate Roles for Form and Function in Mitochondria Distribution.
Cell reports | 2018-05-08 | PMID 29742430
Trevisan Tatiana, Pendin Diana, Montagna Aldo and 3 more
Recently Identified Mutations in the Ebola Virus-Makona Genome Do Not Alter Pathogenicity in Animal Models.
Cell reports | 2018-05-08 | PMID 29742435
Marzi Andrea, Chadinah Spencer, Haddock Elaine and 9 more
The Assembly-Activating Protein Promotes Stability and Interactions between AAV's Viral Proteins to Nucleate Capsid Assembly.
Cell reports | 2018-05-08 | PMID 29742436
Maurer Anna C, Pacouret Simon, Cepeda Diaz Ana Karla and 3 more
Homophilic and Heterophilic Interactions of Type II Cadherins Identify Specificity Groups Underlying Cell-Adhesive Behavior.
Cell reports | 2018-05-08 | PMID 29742438
Brasch Julia, Katsamba Phinikoula S, Harrison Oliver J and 8 more
The comparison of MAMA PCR and SSCP PCR to study chromosomal resistance against Ciprofloxacin and Nalidixic acid in Escherichia coli and Klebsiella pneumoniae.
Microbial pathogenesis | 2018-07-01 | PMID 29742463
Hashemi Behnam, Abdollahi Maryam, Rafiei Alireza and 4 more
Real life efficacy of ledipasvir/sofosbuvir in hepatitis C genotype 4-infected patients with advanced liver fibrosis and decompensated cirrhosis.
The Journal of infection | 2018-06-01 | PMID 29742470
Sanai Faisal M, Altraif Ibrahim H, Alswat Khalid and 20 more
Autoimmune phenotypes in schizophrenia reveal novel treatment targets.
Pharmacology & therapeutics | 2018-09-01 | PMID 29742478
Severance Emily G, Dickerson Faith B, Yolken Robert H
Association Between Polymorphisms of the Complement 3 Gene and Schizophrenia in a Han Chinese Population.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2018-01-01 | PMID 29742493
Zhang Shangchao, Zhou Na, Liu Rui and 9 more
Transcriptome Profile Analysis of Mechanisms of Black and White Plumage Determination in Black-Bone Chicken.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2018-01-01 | PMID 29742500
Yu Shigang, Wang Gang, Liao Juan and 2 more
Genes: CHAC1, GPX3, HOXA9, HOXB9, HOXC8, MITF, TYR
The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.
Cytogenetic and genome research | 2018-01-01 | PMID 29742505
Li Ang, Cui Ying-Xia, Lv Xing and 10 more
Two Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome.
The American Journal of dermatopathology | 2018-10-01 | PMID 29742560
Bartenstein Diana, Chung Hye Jin, Hussain Sadaf
Genes: GJB2, GJB6
Loss-of-function mutation in Hippo suppressed enlargement of lysosomes and neurodegeneration caused by dFIG4 knockdown.
Neuroreport | 2018-07-04 | PMID 29742619
Kushimura Yukie, Azuma Yumiko, Mizuta Ikuko and 6 more
Genes: FIG4
Fluorescence in-situ hybridization method reveals that carboxyl-terminal fragments of transactive response DNA-binding protein-43 truncated at the amino acid residue 218 reduce poly(A)+ RNA expression.
Neuroreport | 2018-07-04 | PMID 29742622
Higashi Shinji, Watanabe Ryohei, Arai Tetsuaki
Effects of Cancer Genetic Panel Testing on at-Risk Individuals.
Obstetrics and gynecology | 2018-06-01 | PMID 29742654
Frost Anja S, Toaff Miriam, Biagi Tara and 3 more
Genes: CHEK2
Obstetric Management of Loeys-Dietz Syndrome.
Obstetrics and gynecology | 2018-06-01 | PMID 29742657
Russo Melissa L, Sukhavasi Neelima, Mathur Veena and 1 more
Associations of common variants at ALDH2 gene and the risk of stroke in patients with coronary artery diseases undergoing percutaneous coronary intervention.
Medicine | 2018-05-01 | PMID 29742731
You Ling, Li Chenze, Zhao Jinzhao and 2 more
Genes: ALDH2
Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report.
Medicine | 2018-05-01 | PMID 29742732
Huang Xiaojie, Xu Fangfang, Assa Carmel Rebecca and 3 more
Genes: PROS1
Hippocampal place cell dysfunction and the effects of muscarinic M1 receptor agonism in a rat model of Alzheimer's disease.
Hippocampus | 2018-08-01 | PMID 29742799
Galloway Claire R, Ravipati Kaushik, Singh Suyashi and 4 more