Research
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14q32 deletion syndrome: a clinical report Letter
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A 350-kb cosmid contig in 3p14.2 that crosses the t(3;8) hereditary renal cell carcinoma translocation breakpoint and 17 aphidicolin-induced FRA3B breakpoints Article
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A 9-year-old male with a duplication of chromosome 3p25.3p26.2: Clinical report and gene expression analysis Article
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A gene from human chromosomal band 3p21.1 encodes a highly conserved arginine-rich protein and is mutated in renal cell carcinomas Article
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A genomics approach to male infertility Article
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A practical approach to liver metastasis from unknown primary cancer: What surgeons need to know Article
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A role for candidate tumor-suppressor gene TCEAL7 in the regulation of c-Myc activity, cyclin D1 levels and cellular transformation Article
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ALLELIC LOSS IN SQUAMOUS-CELL CARCINOMAS OF THE LARYNX - DISCORDANCE BETWEEN PRIMARY AND METASTATIC TUMORS Note
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ALTERATION OF AN AMINO-ACID RESIDUE OUTSIDE THE ACTIVE-SITE OF THE RICIN A-CHAIN REDUCES ITS TOXICITY TOWARDS YEAST RIBOSOMES Article
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ASSIGNMENT OF THE GENE (GLCLC) THAT ENCODES THE HEAVY SUBUNIT OF GAMMA-GLUTAMYLCYSTEINE SYNTHETASE TO HUMAN-CHROMOSOME-6 Article
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Altered TGF beta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency Article
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Analysis of the mutation dynamics of SARS-CoV-2 genome in the samples from Georgia State of the United States Article
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Aphidicolin-induced FRA3B breakpoints cluster in two distinct regions Article
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Arterial tortuosity syndrome: 40 new families and literature review Review
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Arterial tortuosity syndrome: 40 new families and literature review (vol 20, pg 1236, 2017) Correction
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Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21 Article
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Association between uncoupling protein polymorphisms (UCP2-UCP3) and energy metabolism obesity in Pima Indians Article
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Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) Article
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Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians Article
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Available technologies and clinical applications of targeted chemotherapy in pancreatic cancer Article
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Bevacizumab in the treatment of non-small-cell lung cancer Review
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Building hearts for undergraduate research with tunicates Early Access
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CANCER GENETICS Journal
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CD44 and PTGS2 Methylation are Independent Prognostic Markers for Biochemical Recurrence Among Prostate Cancer Patients with Clinically Localized Disease Article
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CIRCULATION-GENOMIC AND PRECISION MEDICINE Journal
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CLARIFICATION OF CHROMOSOMAL-ABNORMALITIES ASSOCIATED WITH SEXUAL AMBIGUITY BY STUDIES WITH Y-CHROMOSOMAL DNA-SEQUENCES Article
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Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene Article
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Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services Article
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Coenzyme Q10 levels in Prader-Willi syndrome: Comparison with obese and non-obese subjects Article
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Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa Article
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Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome Article
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Csf2 and Ptgs2 Epigenetic Dysregulation in Diabetesprone Bicongenic B6. NODC11bxC1tb Mice Article
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Cystatin M suppresses the malignant phenotype of human MDA-MB-435S cells Article
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DISEASE MARKERS Journal
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DNA Methylation as a Marker of Body Shape in Premenopausal Women Article
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DiGeorge anomaly and chromosome 10p deletions: One or two loci? Article
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Differential open chromatin profile and transcriptomic signature define depot-specific human subcutaneous preadipocytes: primary outcomes Article
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Effects of a nutritional supplement in older individuals subject to ten days of complete bed rest. WoS Publication
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Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome Article
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FURTHER DELINEATION OF THE DUP(3Q) SYNDROME Article
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Familiar ty of physical and metabolic characteristics that predict the development of non-insulin-dependent diabetes mellitus in pima Indians Article
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Five new subjects with ring chromosome 22 Article
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Frequent breakpoints in the region surrounding FRA3B in sporadic renal cell carcinomas Article
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Fryns syndrome: Report of eight new cases Letter
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Gene expression in skeletal muscle in older individuals subject to ten days of complete bed rest. WoS Publication
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Genetic investigation of 93 families with microphthalmia or posterior microphthalmos Article
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Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway Article
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Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure. WoS Publication
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Heterogeneity in hereditary pancreatitis Article
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High growth hormone levels in clinically short stature children. WoS Publication
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Human selenoprotein P gene maps to 5q31 Article
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Hyperactive EGF receptor, Jaks and Stat3 signaling promote enhanced colony-forming ability, motility and migration of cisplatin-resistant ovarian cancer cells Article
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Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome? Article
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JOURNAL OF INHERITED METABOLIC DISEASE Journal
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K-RAS Mutant Gene Found in Pancreatic Juice Activated Chromatin From Peri-ampullary Adenocarcinomas Article
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Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis Article
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MOLECULAR DIAGNOSIS & THERAPY Journal
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Mapping genetic variability in mature miRNAs and miRNA binding sites in prostate cancer Article
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Mitochondrial accumulation of doxorubicin in cardiac and diaphragm muscle following exercise preconditioning Article
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Molecular classification of blood and bleeding disorder genes Article
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Molecular interactions between glucocorticoid and catecholamine signaling pathways. Article
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Molecular profiles in foregut oncology Article
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Multiple inositol polyphosphate phosphatase: Evolution as a distinct group within the histidine phosphatase family and chromosomal localization of the human and mouse genes to chromosomes 10q23 and 19 Article
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Mutations in the arginine-rich protein gene (ARP) in pancreatic cancer Article
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New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia Article
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ONCOGENE Journal
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PHYSICAL AND LINKAGE MAPPING OF HUMAN CARBAMYL-PHOSPHATE SYNTHETASE (CPS1) AND REASSIGNMENT FROM 2P TO 2Q35 Article
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PHYSIOLOGICAL GENOMICS Journal
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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome Article
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Pancreatic Ductal Adenocarcinoma (PDAC) circulating tumor cells influence myeloid cell differentiation to support their survival and immunoresistance in portal vein circulation. WoS Publication
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Recurrent agnathia-Otocephaly caused by DNA replication slippage in PRRX1 Article
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Septin 3 gene polymorphism in Alzheimer's disease Article
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Sex differences in soluble prorenin receptor in patients with type 2 diabetes Article
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Single-Nucleotide Polymorphism of the MLX Gene Is Associated With Takayasu Arteritis Article
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Structural Chromosome Abnormalities Associated with Obesity: Report of Four New Subjects and Review of Literature Review
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Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations Article
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Suppression of NANOG Expression Reduces Drug Resistance of Cancer Stem Cells in Glioblastoma Article
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TCEAL7, a putative tumor suppressor gene, negatively regulates NF-kappa B pathway Article
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TRANSLOCATION (1-22) IN A CHILD WITH BILATERAL OBLIQUE FACIAL CLEFTS Article
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TRANSLOCATION-(5-6) ASSOCIATED WITH SPONTANEOUSLY REMITTING CONGENITAL LEUKEMIA Article
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TRISOMY-18 AND HEPATIC NEOPLASIA Note
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The 3q29 Microdeletion Syndrome: Report of Three New Unrelated Patients and In Silico "RNA Binding'' Analysis of the 3q29 Region Article
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The many faces of peroxisomal disorders: Lessons from a large Arab cohort Article
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Transcriptomic signatures and chromatin structure in adipocytes isolated from premenauposal women subcutaneous fat WoS Publication
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Transcriptomic signatures and chromatin structure in adipocytes isolated from premenauposal women subcutaneous fat [ATAc-seq] WoS Publication
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Transcriptomic signatures and chromatin structure in adipocytes isolated from premenauposal women subcutaneous fat [RnA-seq] WoS Publication
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Transformation of human ovarian surface epithelial cells by Kruppel-like factor 8 Article
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USE OF A PROBE FOR THE PUTATIVE SEX DETERMINING GENE, ZINC FINGER Y, IN THE STUDY OF PATIENTS WITH AMBIGUOUS GENITALIA AND XY GONADAL-DYSGENESIS Article
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Unique role for lncRNA HOTAIR in defining depot-specific gene expression patterns in human adipose-derived stem cells. WoS Publication
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ZELLWEGER SYNDROME - DIAGNOSTIC ASSAYS, SYNDROME DELINEATION, AND POTENTIAL THERAPY Article
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scRnA-Seq from stroma vascular fraction of abdominal and gluteofemoral subcutaneous white adipose tissue scRNAseq librairy of isolated ABD and GF adipose tissue SVF of female#1 & female#3 scRNAseq librairy of isolated ABD and GF adipose tissue SVF of female#2 scRNAseq librairy of isolated ABD and GF adipose tissue SVF of female#4 scRNAseq librairy of isolated ABD and GF adipose tissue SVF of female#5 WoS Publication