SHS/biored_tokenized · Datasets at Hugging Face

pmid stringclasses 30 values	passage stringclasses 30 values	tokens sequence	ner_tags sequence
19394258	The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Deoxyguanosine kinase (dGK) deficiency is a frequent cause of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this study, we describe a new splice site mutation in the DGUOK gene and the clin...	[ "The", "first", "founder", "DGUOK", "mutation", "associated", "with", "hepatocerebral", "mitochondrial", "DNA", "depletion", "syndrome", ".", "Deoxyguanosine", "kinase", "(", "dGK", ")", "deficiency", "is", "a", "frequent", "cause", "of", "mitochondrial", "DNA", "...	[ "0", "0", "0", "1", "0", "0", "0", "2", "2", "2", "2", "2", "0", "2", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
2491010	Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Eighty unrelated individuals with Duchenne muscular dystrophy (DMD)or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locu...	[ "Molecular", "and", "phenotypic", "analysis", "of", "patients", "with", "deletions", "within", "the", "deletion-rich", "region", "of", "the", "Duchenne", "muscular", "dystrophy", "(", "DMD", ")", "gene", ".", "Eighty", "unrelated", "individuals", "with", "Duchenne...	[ "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "1", "1", "1", "1", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "...
21405999	Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. Background: Heterozygous mutations in GUCA1A (MIM # 600364) have been identified to cause autosomal dominantly inherited cone dystrophy, cone rod dystrophy and macular dystrophy. However, the role of GUCA1B gene mutat...	[ "Mutation", "screening", "of", "the", "GUCA1B", "gene", "in", "patients", "with", "autosomal", "dominant", "cone", "and", "cone", "rod", "dystrophy", ".", "Background", ":", "Heterozygous", "mutations", "in", "GUCA1A", "(", "MIM", "#", "600364", ")", "have", ...	[ "0", "0", "0", "0", "1", "0", "0", "4", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "2", "0", "2", "2", "...
21684788	Large contiguous gene deletions in Sjogren-Larsson syndrome. Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty...	[ "Large", "contiguous", "gene", "deletions", "in", "Sjogren-Larsson", "syndrome", ".", "Sjogren-Larsson", "syndrome", "(", "SLS", ")", "is", "an", "autosomal", "recessive", "disorder", "characterized", "by", "ichthyosis", ",", "mental", "retardation", ",", "spasticit...	[ "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "0", "2", "0", "0", "0", "2", "2", "2", "0", "0", "2", "0", "2", "2", "0", "2", "0", "0", "0", "0", "1", "0", "0", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "3", "...
16840830	Two novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1. Multiple endocrine neoplasia type 1 (MEN1) is characterized by parathyroid, enteropancreatic endocrine and pituitary adenomas as well as germline mutation of the MEN1 gene. We describe 2 families with MEN1 with novel mutations in the ...	[ "Two", "novel", "mutations", "in", "the", "MEN1", "gene", "in", "subjects", "with", "multiple", "endocrine", "neoplasia-1", ".", "Multiple", "endocrine", "neoplasia", "type", "1", "(", "MEN1", ")", "is", "characterized", "by", "parathyroid", ",", "enteropancreat...	[ "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "2", "2", "2", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "...
15668505	Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. The HH genotype of the nonconservative amino acid substitution polymorphism N372H in the BRCA2 gene was reported to be associated with a 1.3- to 1.5-fold increase in risk of both breast and ovarian cancer. As these stud...	[ "Common", "BRCA2", "variants", "and", "modification", "of", "breast", "and", "ovarian", "cancer", "risk", "in", "BRCA1", "mutation", "carriers", ".", "The", "HH", "genotype", "of", "the", "nonconservative", "amino", "acid", "substitution", "polymorphism", "N372H",...	[ "0", "1", "0", "0", "0", "0", "2", "2", "2", "2", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "5", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
15130900	Urinary bladder cancer in Wegener's granulomatosis: risks and relation to cyclophosphamide. OBJECTIVE: To assess and characterise the risk of bladder cancer, and its relation to cyclophosphamide, in patients with Wegener's granulomatosis. METHODS: In the population based, nationwide Swedish Inpatient Register a cohort ...	[ "Urinary", "bladder", "cancer", "in", "Wegener", "'s", "granulomatosis", ":", "risks", "and", "relation", "to", "cyclophosphamide", ".", "OBJECTIVE", ":", "To", "assess", "and", "characterise", "the", "risk", "of", "bladder", "cancer", ",", "and", "its", "rela...	[ "2", "2", "2", "0", "2", "2", "2", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "3", "0", "0", "4", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "...
18257781	Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease. BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), which is caused by mutations in polycystins 1 (PC1) and 2 (PC2), is one of the most commonly inherited renal diseases, af...	[ "Co-inheritance", "of", "a", "PKD1", "mutation", "and", "homozygous", "PKD2", "variant", ":", "a", "potential", "modifier", "in", "autosomal", "dominant", "polycystic", "kidney", "disease", ".", "BACKGROUND", ":", "Autosomal", "dominant", "polycystic", "kidney", "...	[ "0", "0", "0", "1", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "1", "0", "0", "0", "0", "...
16970763	Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. BACKGROUND: To examine the contribution of mutations within the Norrie disease (NDP) gene to the clinically similar retinal diseases Norrie disease, X-linked familial exudative vitreoretinopat...	[ "Mutations", "in", "the", "NDP", "gene", ":", "contribution", "to", "Norrie", "disease", ",", "familial", "exudative", "vitreoretinopathy", "and", "retinopathy", "of", "prematurity", ".", "BACKGROUND", ":", "To", "examine", "the", "contribution", "of", "mutations"...	[ "0", "0", "0", "1", "0", "0", "0", "0", "2", "2", "0", "2", "2", "2", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "0", "2", "...
19276632	Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate. In contrast to disorders of sexual differentiation caused by lack of androgen production or inhibited androgen action, defects affecting development of the bipotent genital anlagen have rarely been investiga...	[ "Mutation", "analysis", "of", "FOXF2", "in", "patients", "with", "disorders", "of", "sex", "development", "(", "DSD", ")", "in", "combination", "with", "cleft", "palate", ".", "In", "contrast", "to", "disorders", "of", "sexual", "differentiation", "caused", "b...	[ "0", "0", "0", "1", "0", "4", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "2", "2", "2", "2", "0", "0", "0", "0", "3", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
15459975	Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised ker...	[ "Fine", "mapping", "and", "identification", "of", "a", "candidate", "gene", "SSH1", "in", "disseminated", "superficial", "actinic", "porokeratosis", ".", "Disseminated", "superficial", "actinic", "porokeratosis", "(", "DSAP", ")", "is", "an", "uncommon", "autosomal"...	[ "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "2", "2", "2", "2", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "...
16330669	Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma. PURPOSE: To evaluate the clinical relevance of genomic aberrations in primary cutaneous large B-cell lymphoma (PCLBCL). PATIENTS AND METHODS: Skin biopsy...	[ "Array-based", "comparative", "genomic", "hybridization", "analysis", "reveals", "recurrent", "chromosomal", "alterations", "and", "prognostic", "parameters", "in", "primary", "cutaneous", "large", "B-cell", "lymphoma", ".", "PURPOSE", ":", "To", "evaluate", "the", "c...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "4", "0", "0", "0", "0", "0", "...
19208385	Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by fractures with minimal trauma. Intracranial hemorrhage has been reported in a small number of OI patients. Here we de...	[ "Osteogenesis", "imperfecta", "type", "III", "with", "intracranial", "hemorrhage", "and", "brachydactyly", "associated", "with", "mutations", "in", "exon", "49", "of", "COL1A2", ".", "Osteogenesis", "imperfecta", "(", "OI", ")", "is", "a", "heritable", "bone", "...	[ "2", "2", "2", "2", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "1", "0", "2", "2", "0", "2", "0", "0", "0", "0", "2", "2", "0", "0", "2", "0", "0", "2", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "...
19681452	Bilateral haemorrhagic infarction of the globus pallidus after cocaine and alcohol intoxication. Cocaine is a risk factor for both ischemic and haemorrhagic stroke. We present the case of a 31-year-old man with bilateral ischemia of the globus pallidus after excessive alcohol and intranasal cocaine use. Drug-related gl...	[ "Bilateral", "haemorrhagic", "infarction", "of", "the", "globus", "pallidus", "after", "cocaine", "and", "alcohol", "intoxication", ".", "Cocaine", "is", "a", "risk", "factor", "for", "both", "ischemic", "and", "haemorrhagic", "stroke", ".", "We", "present", "th...	[ "0", "2", "2", "2", "2", "2", "2", "0", "3", "0", "3", "0", "0", "3", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "2", "2", "2", "2", "2", "0", "0", "3", "0", "0", "...
20709368	The fibrinogen gamma 10034C>T polymorphism is not associated with Peripheral Arterial Disease. Conversion of fibrinogen to fibrin plays an essential role in hemostasis and results in stabilization of the fibrin clot. Fibrinogen consists of three pairs of non-identical polypeptide chains, encoded by different genes (fib...	[ "The", "fibrinogen", "gamma", "10034C", ">", "T", "polymorphism", "is", "not", "associated", "with", "Peripheral", "Arterial", "Disease", ".", "Conversion", "of", "fibrinogen", "to", "fibrin", "plays", "an", "essential", "role", "in", "hemostasis", "and", "resul...	[ "0", "1", "1", "5", "5", "5", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
27798239	Phosphatidylinositol 4-kinase IIb negatively regulates invadopodia formation and suppresses an invasive cellular phenotype. The type II phosphatidylinositol 4-kinase (PI4KII) enzymes synthesize the lipid phosphatidylinositol 4-phosphate (PI(4)P), which has been detected at the Golgi complex and endosomal compartments a...	[ "Phosphatidylinositol", "4-kinase", "IIb", "negatively", "regulates", "invadopodia", "formation", "and", "suppresses", "an", "invasive", "cellular", "phenotype", ".", "The", "type", "II", "phosphatidylinositol", "4-kinase", "(", "PI4KII", ")", "enzymes", "synthesize", ...	[ "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "1", "0", "1", "0", "0", "0", "0", "3", "3", "3", "0", "3", "3", "3", "3", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
15111599	CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. PURPOSE: To identify the genetic defect leading to the congenital nuclear cataract affecting a large five-generation Swiss family. METHODS: Family history and clinical data were recorded. The phenot...	[ "CRYBA3/A1", "gene", "mutation", "associated", "with", "suture-sparing", "autosomal", "dominant", "congenital", "nuclear", "cataract", ":", "a", "novel", "phenotype", ".", "PURPOSE", ":", "To", "identify", "the", "genetic", "defect", "leading", "to", "the", "conge...	[ "1", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
15820770	Vitamin D-binding protein gene polymorphism association with IA-2 autoantibodies in type 1 diabetes. BACKGROUND: Vitamin D-binding protein (DBP) is the main systemic transporter of 1.25(OH)2D3 and is essential for its cellular endocytosis. There are two known polymorphisms in exon 11 of the DBP gene resulting in amino ...	[ "Vitamin", "D-binding", "protein", "gene", "polymorphism", "association", "with", "IA-2", "autoantibodies", "in", "type", "1", "diabetes", ".", "BACKGROUND", ":", "Vitamin", "D-binding", "protein", "(", "DBP", ")", "is", "the", "main", "systemic", "transporter", ...	[ "1", "1", "1", "0", "0", "0", "0", "1", "0", "0", "2", "2", "2", "0", "0", "0", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "3", "3", "3", "3", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
16186368	Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. PURPOSE: Mutations of the CYP4V2 gene, a novel family member of the cytochrome P450 genes on chromosome 4q35, have recently been identified in patients with Bietti crystalline dystrophy (BCD). The aim of this study was to investigate the s...	[ "Characterization", "of", "Bietti", "crystalline", "dystrophy", "patients", "with", "CYP4V2", "mutations", ".", "PURPOSE", ":", "Mutations", "of", "the", "CYP4V2", "gene", ",", "a", "novel", "family", "member", "of", "the", "cytochrome", "P450", "genes", "on", ...	[ "0", "0", "2", "2", "2", "4", "0", "1", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "2", "2", "2", "0", "2", "0", "0", "...
17511042	An extremely rare case of delusional parasitosis in a chronic hepatitis C patient during pegylated interferon alpha-2b and ribavirin treatment. During treatment of chronic hepatitis C patients with interferon and ribavirin, a lot of side effects are described. Twenty-three percent to 44% of patients develop depression....	[ "An", "extremely", "rare", "case", "of", "delusional", "parasitosis", "in", "a", "chronic", "hepatitis", "C", "patient", "during", "pegylated", "interferon", "alpha-2b", "and", "ribavirin", "treatment", ".", "During", "treatment", "of", "chronic", "hepatitis", "C"...	[ "0", "0", "0", "0", "0", "2", "2", "0", "0", "2", "2", "2", "4", "0", "1", "1", "1", "0", "3", "0", "0", "0", "0", "0", "2", "2", "2", "4", "0", "1", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
19353688	Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1). Insertional translocations (IT) are rare structural rearrangements. Offspring of IT balanced carriers are at high risk to have...	[ "Pure", "monosomy", "and", "pure", "trisomy", "of", "13q21.2-31.1", "consequent", "to", "a", "familial", "insertional", "translocation", ":", "exclusion", "of", "PCDH9", "as", "the", "responsible", "gene", "for", "autosomal", "dominant", "auditory", "neuropathy", ...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
21126715	A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is characterized by a near-complete absence of adipose tissue from birth or early infancy. Mutations in the BSCL2 gene...	[ "A", "Taiwanese", "boy", "with", "congenital", "generalized", "lipodystrophy", "caused", "by", "homozygous", "Ile262fs", "mutation", "in", "the", "BSCL2", "gene", ".", "Congenital", "generalized", "lipodystrophy", "(", "CGL", ")", "is", "a", "rare", "autosomal", ...	[ "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "5", "0", "0", "0", "1", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
16252083	Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression. The response of the cell to DNA damage and its ability to maintain genomic stability by DNA repair are crucial in preventing cancer initiation and progression. Therefore, polymorphism of DNA repair genes may affect the proce...	[ "Polymorphisms", "of", "the", "DNA", "mismatch", "repair", "gene", "HMSH2", "in", "breast", "cancer", "occurence", "and", "progression", ".", "The", "response", "of", "the", "cell", "to", "DNA", "damage", "and", "its", "ability", "to", "maintain", "genomic", ...	[ "0", "0", "0", "0", "1", "1", "0", "1", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "...
18507837	Effects of common germline genetic variation in cell cycle control genes on breast cancer survival: results from a population-based cohort. INTRODUCTION: Somatic alterations have been shown to correlate with breast cancer prognosis and survival, but less is known about the effects of common inherited genetic variation....	[ "Effects", "of", "common", "germline", "genetic", "variation", "in", "cell", "cycle", "control", "genes", "on", "breast", "cancer", "survival", ":", "results", "from", "a", "population-based", "cohort", ".", "INTRODUCTION", ":", "Somatic", "alterations", "have", ...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
26615423	Upregulation of centrosomal protein 55 is associated with unfavorable prognosis and tumor invasion in epithelial ovarian carcinoma. Centrosomal protein 55 (CEP55) is a cell cycle regulator implicated in development of certain cancers. However, characteristics of CEP55 expression and its clinical/prognostic significance...	[ "Upregulation", "of", "centrosomal", "protein", "55", "is", "associated", "with", "unfavorable", "prognosis", "and", "tumor", "invasion", "in", "epithelial", "ovarian", "carcinoma", ".", "Centrosomal", "protein", "55", "(", "CEP55", ")", "is", "a", "cell", "cycl...	[ "0", "0", "1", "1", "1", "0", "0", "0", "0", "0", "0", "2", "0", "0", "2", "2", "2", "0", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "...
15000256	Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. Fragile X syndrome is one of the most common causes of mental retardation in males, and patients with fragile X syndrome occasionally develop autism. It is usually caused by an expansion of the trinucl...	[ "Single-strand", "conformation", "polymorphism", "analysis", "of", "the", "FMR1", "gene", "in", "autistic", "and", "mentally", "retarded", "children", "in", "Japan", ".", "Fragile", "X", "syndrome", "is", "one", "of", "the", "most", "common", "causes", "of", "...	[ "0", "0", "0", "0", "0", "0", "1", "0", "0", "2", "0", "2", "2", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "4", "0", "2", "2", "2", "0", "0", "2", "0", "0", "0", "...
19957053	Phenylephrine but not ephedrine reduces frontal lobe oxygenation following anesthesia-induced hypotension. BACKGROUND: Vasopressor agents are used to correct anesthesia-induced hypotension. We describe the effect of phenylephrine and ephedrine on frontal lobe oxygenation (S(c)O(2)) following anesthesia-induced hypotens...	[ "Phenylephrine", "but", "not", "ephedrine", "reduces", "frontal", "lobe", "oxygenation", "following", "anesthesia-induced", "hypotension", ".", "BACKGROUND", ":", "Vasopressor", "agents", "are", "used", "to", "correct", "anesthesia-induced", "hypotension", ".", "We", ...	[ "3", "0", "0", "3", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "3", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
18441470	Complete atrioventricular block secondary to lithium therapy. Sinus node dysfunction has been reported most frequently among the adverse cardiovascular effects of lithium. In the present case, complete atrioventricular (AV) block with syncopal attacks developed secondary to lithium therapy, necessitating permanent pace...	[ "Complete", "atrioventricular", "block", "secondary", "to", "lithium", "therapy", ".", "Sinus", "node", "dysfunction", "has", "been", "reported", "most", "frequently", "among", "the", "adverse", "cardiovascular", "effects", "of", "lithium", ".", "In", "the", "pres...	[ "2", "2", "2", "0", "0", "3", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "3", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "2", "0", "2", "2", "0", "0", "0", "3", "0", "0", "0", "...
18399341	Clinical comparison of cardiorespiratory effects during unilateral and conventional spinal anaesthesia. BACKGROUND: Spinal anaesthesia is widely employed in clinical practice but has the main drawback of post-spinal block hypotension. Efforts must therefore continue to be made to obviate this setback OBJECTIVE: To eval...	[ "Clinical", "comparison", "of", "cardiorespiratory", "effects", "during", "unilateral", "and", "conventional", "spinal", "anaesthesia", ".", "BACKGROUND", ":", "Spinal", "anaesthesia", "is", "widely", "employed", "in", "clinical", "practice", "but", "has", "the", "m...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
24717468	A comparison of severe hemodynamic disturbances between dexmedetomidine and propofol for sedation in neurocritical care patients. OBJECTIVE: Dexmedetomidine and propofol are commonly used sedatives in neurocritical care as they allow for frequent neurologic examinations. However, both agents are associated with signifi...	[ "A", "comparison", "of", "severe", "hemodynamic", "disturbances", "between", "dexmedetomidine", "and", "propofol", "for", "sedation", "in", "neurocritical", "care", "patients", ".", "OBJECTIVE", ":", "Dexmedetomidine", "and", "propofol", "are", "commonly", "used", "...	[ "0", "0", "0", "0", "0", "0", "0", "3", "0", "3", "0", "0", "0", "0", "0", "4", "0", "0", "0", "3", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

19394258

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Deoxyguanosine kinase (dGK) deficiency is a frequent cause of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this study, we describe a new splice site mutation in the DGUOK gene and the clin...

[ "The", "first", "founder", "DGUOK", "mutation", "associated", "with", "hepatocerebral", "mitochondrial", "DNA", "depletion", "syndrome", ".", "Deoxyguanosine", "kinase", "(", "dGK", ")", "deficiency", "is", "a", "frequent", "cause", "of", "mitochondrial", "DNA", "...

[ "0", "0", "0", "1", "0", "0", "0", "2", "2", "2", "2", "2", "0", "2", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

2491010

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Eighty unrelated individuals with Duchenne muscular dystrophy (DMD)or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locu...

[ "Molecular", "and", "phenotypic", "analysis", "of", "patients", "with", "deletions", "within", "the", "deletion-rich", "region", "of", "the", "Duchenne", "muscular", "dystrophy", "(", "DMD", ")", "gene", ".", "Eighty", "unrelated", "individuals", "with", "Duchenne...

[ "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "1", "1", "1", "1", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "...

21405999

Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. Background: Heterozygous mutations in GUCA1A (MIM # 600364) have been identified to cause autosomal dominantly inherited cone dystrophy, cone rod dystrophy and macular dystrophy. However, the role of GUCA1B gene mutat...

[ "Mutation", "screening", "of", "the", "GUCA1B", "gene", "in", "patients", "with", "autosomal", "dominant", "cone", "and", "cone", "rod", "dystrophy", ".", "Background", ":", "Heterozygous", "mutations", "in", "GUCA1A", "(", "MIM", "#", "600364", ")", "have", ...

[ "0", "0", "0", "0", "1", "0", "0", "4", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "2", "0", "2", "2", "...

21684788

Large contiguous gene deletions in Sjogren-Larsson syndrome. Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty...

[ "Large", "contiguous", "gene", "deletions", "in", "Sjogren-Larsson", "syndrome", ".", "Sjogren-Larsson", "syndrome", "(", "SLS", ")", "is", "an", "autosomal", "recessive", "disorder", "characterized", "by", "ichthyosis", ",", "mental", "retardation", ",", "spasticit...

[ "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "0", "2", "0", "0", "0", "2", "2", "2", "0", "0", "2", "0", "2", "2", "0", "2", "0", "0", "0", "0", "1", "0", "0", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "3", "...

16840830

Two novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1. Multiple endocrine neoplasia type 1 (MEN1) is characterized by parathyroid, enteropancreatic endocrine and pituitary adenomas as well as germline mutation of the MEN1 gene. We describe 2 families with MEN1 with novel mutations in the ...

[ "Two", "novel", "mutations", "in", "the", "MEN1", "gene", "in", "subjects", "with", "multiple", "endocrine", "neoplasia-1", ".", "Multiple", "endocrine", "neoplasia", "type", "1", "(", "MEN1", ")", "is", "characterized", "by", "parathyroid", ",", "enteropancreat...

[ "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "2", "2", "2", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "...

15668505

Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. The HH genotype of the nonconservative amino acid substitution polymorphism N372H in the BRCA2 gene was reported to be associated with a 1.3- to 1.5-fold increase in risk of both breast and ovarian cancer. As these stud...

[ "Common", "BRCA2", "variants", "and", "modification", "of", "breast", "and", "ovarian", "cancer", "risk", "in", "BRCA1", "mutation", "carriers", ".", "The", "HH", "genotype", "of", "the", "nonconservative", "amino", "acid", "substitution", "polymorphism", "N372H",...

[ "0", "1", "0", "0", "0", "0", "2", "2", "2", "2", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "5", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

15130900

Urinary bladder cancer in Wegener's granulomatosis: risks and relation to cyclophosphamide. OBJECTIVE: To assess and characterise the risk of bladder cancer, and its relation to cyclophosphamide, in patients with Wegener's granulomatosis. METHODS: In the population based, nationwide Swedish Inpatient Register a cohort ...

[ "Urinary", "bladder", "cancer", "in", "Wegener", "'s", "granulomatosis", ":", "risks", "and", "relation", "to", "cyclophosphamide", ".", "OBJECTIVE", ":", "To", "assess", "and", "characterise", "the", "risk", "of", "bladder", "cancer", ",", "and", "its", "rela...

[ "2", "2", "2", "0", "2", "2", "2", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "3", "0", "0", "4", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "...

18257781

Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease. BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), which is caused by mutations in polycystins 1 (PC1) and 2 (PC2), is one of the most commonly inherited renal diseases, af...

[ "Co-inheritance", "of", "a", "PKD1", "mutation", "and", "homozygous", "PKD2", "variant", ":", "a", "potential", "modifier", "in", "autosomal", "dominant", "polycystic", "kidney", "disease", ".", "BACKGROUND", ":", "Autosomal", "dominant", "polycystic", "kidney", "...

[ "0", "0", "0", "1", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "1", "0", "0", "0", "0", "...

16970763

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. BACKGROUND: To examine the contribution of mutations within the Norrie disease (NDP) gene to the clinically similar retinal diseases Norrie disease, X-linked familial exudative vitreoretinopat...

[ "Mutations", "in", "the", "NDP", "gene", ":", "contribution", "to", "Norrie", "disease", ",", "familial", "exudative", "vitreoretinopathy", "and", "retinopathy", "of", "prematurity", ".", "BACKGROUND", ":", "To", "examine", "the", "contribution", "of", "mutations"...

[ "0", "0", "0", "1", "0", "0", "0", "0", "2", "2", "0", "2", "2", "2", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "0", "2", "...

19276632

Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate. In contrast to disorders of sexual differentiation caused by lack of androgen production or inhibited androgen action, defects affecting development of the bipotent genital anlagen have rarely been investiga...

[ "Mutation", "analysis", "of", "FOXF2", "in", "patients", "with", "disorders", "of", "sex", "development", "(", "DSD", ")", "in", "combination", "with", "cleft", "palate", ".", "In", "contrast", "to", "disorders", "of", "sexual", "differentiation", "caused", "b...

[ "0", "0", "0", "1", "0", "4", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "2", "2", "2", "2", "0", "0", "0", "0", "3", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

15459975

Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised ker...

[ "Fine", "mapping", "and", "identification", "of", "a", "candidate", "gene", "SSH1", "in", "disseminated", "superficial", "actinic", "porokeratosis", ".", "Disseminated", "superficial", "actinic", "porokeratosis", "(", "DSAP", ")", "is", "an", "uncommon", "autosomal"...

[ "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "2", "2", "2", "2", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "...

16330669

Array-based comparative genomic hybridization analysis reveals recurrent chromosomal alterations and prognostic parameters in primary cutaneous large B-cell lymphoma. PURPOSE: To evaluate the clinical relevance of genomic aberrations in primary cutaneous large B-cell lymphoma (PCLBCL). PATIENTS AND METHODS: Skin biopsy...

[ "Array-based", "comparative", "genomic", "hybridization", "analysis", "reveals", "recurrent", "chromosomal", "alterations", "and", "prognostic", "parameters", "in", "primary", "cutaneous", "large", "B-cell", "lymphoma", ".", "PURPOSE", ":", "To", "evaluate", "the", "c...

[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "4", "0", "0", "0", "0", "0", "...

19208385

Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by fractures with minimal trauma. Intracranial hemorrhage has been reported in a small number of OI patients. Here we de...

[ "Osteogenesis", "imperfecta", "type", "III", "with", "intracranial", "hemorrhage", "and", "brachydactyly", "associated", "with", "mutations", "in", "exon", "49", "of", "COL1A2", ".", "Osteogenesis", "imperfecta", "(", "OI", ")", "is", "a", "heritable", "bone", "...

[ "2", "2", "2", "2", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "1", "0", "2", "2", "0", "2", "0", "0", "0", "0", "2", "2", "0", "0", "2", "0", "0", "2", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "...

19681452

Bilateral haemorrhagic infarction of the globus pallidus after cocaine and alcohol intoxication. Cocaine is a risk factor for both ischemic and haemorrhagic stroke. We present the case of a 31-year-old man with bilateral ischemia of the globus pallidus after excessive alcohol and intranasal cocaine use. Drug-related gl...

[ "Bilateral", "haemorrhagic", "infarction", "of", "the", "globus", "pallidus", "after", "cocaine", "and", "alcohol", "intoxication", ".", "Cocaine", "is", "a", "risk", "factor", "for", "both", "ischemic", "and", "haemorrhagic", "stroke", ".", "We", "present", "th...

[ "0", "2", "2", "2", "2", "2", "2", "0", "3", "0", "3", "0", "0", "3", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "2", "2", "2", "2", "2", "0", "0", "3", "0", "0", "...

20709368

The fibrinogen gamma 10034C>T polymorphism is not associated with Peripheral Arterial Disease. Conversion of fibrinogen to fibrin plays an essential role in hemostasis and results in stabilization of the fibrin clot. Fibrinogen consists of three pairs of non-identical polypeptide chains, encoded by different genes (fib...

[ "The", "fibrinogen", "gamma", "10034C", ">", "T", "polymorphism", "is", "not", "associated", "with", "Peripheral", "Arterial", "Disease", ".", "Conversion", "of", "fibrinogen", "to", "fibrin", "plays", "an", "essential", "role", "in", "hemostasis", "and", "resul...

[ "0", "1", "1", "5", "5", "5", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

27798239

Phosphatidylinositol 4-kinase IIb negatively regulates invadopodia formation and suppresses an invasive cellular phenotype. The type II phosphatidylinositol 4-kinase (PI4KII) enzymes synthesize the lipid phosphatidylinositol 4-phosphate (PI(4)P), which has been detected at the Golgi complex and endosomal compartments a...

[ "Phosphatidylinositol", "4-kinase", "IIb", "negatively", "regulates", "invadopodia", "formation", "and", "suppresses", "an", "invasive", "cellular", "phenotype", ".", "The", "type", "II", "phosphatidylinositol", "4-kinase", "(", "PI4KII", ")", "enzymes", "synthesize", ...

[ "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "1", "0", "1", "0", "0", "0", "0", "3", "3", "3", "0", "3", "3", "3", "3", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

15111599

CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. PURPOSE: To identify the genetic defect leading to the congenital nuclear cataract affecting a large five-generation Swiss family. METHODS: Family history and clinical data were recorded. The phenot...

[ "CRYBA3/A1", "gene", "mutation", "associated", "with", "suture-sparing", "autosomal", "dominant", "congenital", "nuclear", "cataract", ":", "a", "novel", "phenotype", ".", "PURPOSE", ":", "To", "identify", "the", "genetic", "defect", "leading", "to", "the", "conge...

[ "1", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

15820770

Vitamin D-binding protein gene polymorphism association with IA-2 autoantibodies in type 1 diabetes. BACKGROUND: Vitamin D-binding protein (DBP) is the main systemic transporter of 1.25(OH)2D3 and is essential for its cellular endocytosis. There are two known polymorphisms in exon 11 of the DBP gene resulting in amino ...

[ "Vitamin", "D-binding", "protein", "gene", "polymorphism", "association", "with", "IA-2", "autoantibodies", "in", "type", "1", "diabetes", ".", "BACKGROUND", ":", "Vitamin", "D-binding", "protein", "(", "DBP", ")", "is", "the", "main", "systemic", "transporter", ...

[ "1", "1", "1", "0", "0", "0", "0", "1", "0", "0", "2", "2", "2", "0", "0", "0", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "3", "3", "3", "3", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

16186368

Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. PURPOSE: Mutations of the CYP4V2 gene, a novel family member of the cytochrome P450 genes on chromosome 4q35, have recently been identified in patients with Bietti crystalline dystrophy (BCD). The aim of this study was to investigate the s...

[ "Characterization", "of", "Bietti", "crystalline", "dystrophy", "patients", "with", "CYP4V2", "mutations", ".", "PURPOSE", ":", "Mutations", "of", "the", "CYP4V2", "gene", ",", "a", "novel", "family", "member", "of", "the", "cytochrome", "P450", "genes", "on", ...

[ "0", "0", "2", "2", "2", "4", "0", "1", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "2", "2", "2", "0", "2", "0", "0", "...

17511042

An extremely rare case of delusional parasitosis in a chronic hepatitis C patient during pegylated interferon alpha-2b and ribavirin treatment. During treatment of chronic hepatitis C patients with interferon and ribavirin, a lot of side effects are described. Twenty-three percent to 44% of patients develop depression....

[ "An", "extremely", "rare", "case", "of", "delusional", "parasitosis", "in", "a", "chronic", "hepatitis", "C", "patient", "during", "pegylated", "interferon", "alpha-2b", "and", "ribavirin", "treatment", ".", "During", "treatment", "of", "chronic", "hepatitis", "C"...

[ "0", "0", "0", "0", "0", "2", "2", "0", "0", "2", "2", "2", "4", "0", "1", "1", "1", "0", "3", "0", "0", "0", "0", "0", "2", "2", "2", "4", "0", "1", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

19353688

Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1). Insertional translocations (IT) are rare structural rearrangements. Offspring of IT balanced carriers are at high risk to have...

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21126715

A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is characterized by a near-complete absence of adipose tissue from birth or early infancy. Mutations in the BSCL2 gene...

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16252083

Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression. The response of the cell to DNA damage and its ability to maintain genomic stability by DNA repair are crucial in preventing cancer initiation and progression. Therefore, polymorphism of DNA repair genes may affect the proce...

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[ "0", "0", "0", "0", "1", "1", "0", "1", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "...

18507837

Effects of common germline genetic variation in cell cycle control genes on breast cancer survival: results from a population-based cohort. INTRODUCTION: Somatic alterations have been shown to correlate with breast cancer prognosis and survival, but less is known about the effects of common inherited genetic variation....

[ "Effects", "of", "common", "germline", "genetic", "variation", "in", "cell", "cycle", "control", "genes", "on", "breast", "cancer", "survival", ":", "results", "from", "a", "population-based", "cohort", ".", "INTRODUCTION", ":", "Somatic", "alterations", "have", ...

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26615423

Upregulation of centrosomal protein 55 is associated with unfavorable prognosis and tumor invasion in epithelial ovarian carcinoma. Centrosomal protein 55 (CEP55) is a cell cycle regulator implicated in development of certain cancers. However, characteristics of CEP55 expression and its clinical/prognostic significance...

[ "Upregulation", "of", "centrosomal", "protein", "55", "is", "associated", "with", "unfavorable", "prognosis", "and", "tumor", "invasion", "in", "epithelial", "ovarian", "carcinoma", ".", "Centrosomal", "protein", "55", "(", "CEP55", ")", "is", "a", "cell", "cycl...

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15000256

Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. Fragile X syndrome is one of the most common causes of mental retardation in males, and patients with fragile X syndrome occasionally develop autism. It is usually caused by an expansion of the trinucl...

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19957053

Phenylephrine but not ephedrine reduces frontal lobe oxygenation following anesthesia-induced hypotension. BACKGROUND: Vasopressor agents are used to correct anesthesia-induced hypotension. We describe the effect of phenylephrine and ephedrine on frontal lobe oxygenation (S(c)O(2)) following anesthesia-induced hypotens...

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18441470

Complete atrioventricular block secondary to lithium therapy. Sinus node dysfunction has been reported most frequently among the adverse cardiovascular effects of lithium. In the present case, complete atrioventricular (AV) block with syncopal attacks developed secondary to lithium therapy, necessitating permanent pace...

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[ "2", "2", "2", "0", "0", "3", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "3", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "2", "0", "2", "2", "0", "0", "0", "3", "0", "0", "0", "...

18399341

Clinical comparison of cardiorespiratory effects during unilateral and conventional spinal anaesthesia. BACKGROUND: Spinal anaesthesia is widely employed in clinical practice but has the main drawback of post-spinal block hypotension. Efforts must therefore continue to be made to obviate this setback OBJECTIVE: To eval...

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24717468

A comparison of severe hemodynamic disturbances between dexmedetomidine and propofol for sedation in neurocritical care patients. OBJECTIVE: Dexmedetomidine and propofol are commonly used sedatives in neurocritical care as they allow for frequent neurologic examinations. However, both agents are associated with signifi...

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biored_tokenized

Dataset Card for "biored_tokenized"