yasmmin/ncbi_nerfair_processed · Datasets at Hugging Face

id stringlengths 5 8	tokens listlengths 53 590	ner_tags listlengths 53 590
9371490	[ "Frequent", "inactivation", "of", "PTEN", "/", "MMAC1", "in", "primary", "prostate", "cancer", ".", "Sporadic", "prostate", "carcinoma", "is", "the", "most", "common", "male", "cancer", "in", "the", "Western", "world", ",", "yet", "many", "of", "the", "major...	[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 4, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4...
9382108	[ "Risk", "reversals", "in", "predictive", "testing", "for", "Huntington", "disease", ".", "The", "first", "predictive", "testing", "for", "Huntington", "disease", "(", "HD", ")", "was", "based", "on", "analysis", "of", "linked", "polymorphic", "DNA", "markers", ...	[ 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 0, 0, 0...
9385378	[ "A", "novel", "common", "missense", "mutation", "G301C", "in", "the", "N", "-", "acetylgalactosamine", "-", "6", "-", "sulfate", "sulfatase", "gene", "in", "mucopolysaccharidosis", "IVA", ".", "Mucopolysaccharidosis", "IVA", "(", "MPS", "IVA", ")", "is", "an",...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 0, 3, 4, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 1, 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...
9391879	[ "Low", "frequency", "of", "BRCA1", "germline", "mutations", "in", "45", "German", "breast", "/", "ovarian", "cancer", "families", ".", "In", "this", "study", "we", "investigated", "45", "German", "breast", "/", "ovarian", "cancer", "families", "for", "germline...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9391889	[ "Paternal", "transmission", "of", "congenital", "myotonic", "dystrophy", ".", "We", "report", "a", "rare", "case", "of", "paternally", "transmitted", "congenital", "myotonic", "dystrophy", "(", "DM", ")", ".", "The", "proband", "is", "a", "23", "year", "old", ...	[ 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0...
9400934	[ "The", "RB1", "gene", "mutation", "in", "a", "child", "with", "ectopic", "intracranial", "retinoblastoma", ".", "The", "RB1", "gene", "mutation", "was", "investigated", "in", "a", "child", "with", "ectopic", "intracranial", "retinoblastoma", "using", "DNA", "obt...	[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 5, 6, 6, 6, 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, 5, 6...
941901	[ "Low", "levels", "of", "beta", "hexosaminidase", "A", "in", "healthy", "individuals", "with", "apparent", "deficiency", "of", "this", "enzyme", ".", "Appreciable", "beta", "hexosaminidase", "A", "(", "hex", "A", ")", "activity", "has", "been", "detected", "in"...	[ 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, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0...
9420335	[ "The", "tumor", "suppressor", "gene", "Smad4", "/", "Dpc4", "is", "required", "for", "gastrulation", "and", "later", "for", "anterior", "development", "of", "the", "mouse", "embryo", ".", "Mutations", "in", "the", "SMAD4", "/", "DPC4", "tumor", "suppressor", ...	[ 0, 7, 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, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9425228	[ "Prevalence", "of", "p16", "and", "CDK4", "germline", "mutations", "in", "48", "melanoma", "-", "prone", "families", "in", "France", ".", "The", "French", "Familial", "Melanoma", "Study", "Group", ".", "Germline", "mutations", "in", "the", "p16", "and", "CDK...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0...
9425239	[ "Progression", "of", "somatic", "CTG", "repeat", "length", "heterogeneity", "in", "the", "blood", "cells", "of", "myotonic", "dystrophy", "patients", ".", "The", "genetic", "basis", "of", "myotonic", "dystrophy", "(", "DM", ")", "is", "the", "expansion", "of",...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9427148	[ "Aspartylglucosaminuria", "among", "Palestinian", "Arabs", ".", "Aspartylglucosaminuria", "(", "AGU", ")", "is", "a", "rare", "disorder", "of", "glycoprotein", "metabolism", "caused", "by", "the", "deficiency", "of", "the", "lysosomal", "enzyme", "aspartylglucosaminid...	[ 3, 0, 0, 0, 0, 3, 0, 3, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 3, 4, 4, 4, 4, 4, 0, 0, 0, 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, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0...
9439660	[ "Detection", "of", "heterozygous", "carriers", "of", "the", "ataxia", "-", "telangiectasia", "(", "ATM", ")", "gene", "by", "G2", "phase", "chromosomal", "radiosensitivity", "of", "peripheral", "blood", "lymphocytes", ".", "In", "ataxia", "-", "telangiectasia", ...	[ 0, 0, 0, 0, 0, 0, 7, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 0, 7, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9443866	[ "Ataxia", "-", "telangiectasia", ":", "identification", "and", "detection", "of", "founder", "-", "effect", "mutations", "in", "the", "ATM", "gene", "in", "ethnic", "populations", ".", "To", "facilitate", "the", "evaluation", "of", "ATM", "heterozygotes", "for",...	[ 3, 4, 4, 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, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 0, 7, 8, 8, 0, 0, 0, 0, 0, 0...
9448273	[ "The", "von", "Hippel", "-", "Lindau", "tumor", "suppressor", "gene", "is", "required", "for", "cell", "cycle", "exit", "upon", "serum", "withdrawal", ".", "The", "inactivation", "of", "the", "von", "Hippel", "-", "Lindau", "(", "VHL", ")", "tumor", "suppr...	[ 0, 7, 8, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 8, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 7, 0...
9450866	[ "Piebaldism", "with", "deafness", ":", "molecular", "evidence", "for", "an", "expanded", "syndrome", ".", "In", "a", "South", "African", "girl", "of", "Xhosa", "stock", "with", "severe", "piebaldism", "and", "profound", "congenital", "sensorineural", "deafness", ...	[ 3, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 3, 4, 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, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9457913	[ "Cycloheximide", "facilitates", "the", "identification", "of", "aberrant", "transcripts", "resulting", "from", "a", "novel", "splice", "-", "site", "mutation", "in", "COL17A1", "in", "a", "patient", "with", "generalized", "atrophic", "benign", "epidermolysis", "bull...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 3, 4, 4, 4, 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...
9457914	[ "A", "deletion", "mutation", "in", "COL17A1", "in", "five", "Austrian", "families", "with", "generalized", "atrophic", "benign", "epidermolysis", "bullosa", "represents", "propagation", "of", "an", "ancestral", "allele", ".", "Patients", "with", "generalized", "atro...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 3, 0, 3, 4, 0, 3, 4, 0, 0, 1, 2, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9463309	[ "The", "haptoglobin", "-", "gene", "deletion", "responsible", "for", "anhaptoglobinemia", ".", "We", "have", "found", "an", "allelic", "deletion", "of", "the", "haptoglobin", "(", "Hp", ")", "gene", "from", "an", "individual", "with", "anhaptoglobinemia", ".", ...	[ 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9463314	[ "ATM", "mutations", "and", "phenotypes", "in", "ataxia", "-", "telangiectasia", "families", "in", "the", "British", "Isles", ":", "expression", "of", "mutant", "ATM", "and", "the", "risk", "of", "leukemia", ",", "lymphoma", ",", "and", "breast", "cancer", "....	[ 0, 0, 0, 0, 0, 7, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 0, 7, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9463318	[ "The", "DMPK", "gene", "of", "severely", "affected", "myotonic", "dystrophy", "patients", "is", "hypermethylated", "proximal", "to", "the", "largely", "expanded", "CTG", "repeat", ".", "Using", "methylation", "-", "sensitive", "restriction", "enzymes", ",", "we", ...	[ 0, 0, 0, 0, 0, 0, 7, 8, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9465039	[ "The", "hemochromatosis", "gene", "product", "complexes", "with", "the", "transferrin", "receptor", "and", "lowers", "its", "affinity", "for", "ligand", "binding", ".", "We", "recently", "reported", "the", "positional", "cloning", "of", "a", "candidate", "gene", ...	[ 0, 7, 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, 3, 4, 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, 0, 0, 0, 0...
9465301	[ "Genomic", "organization", "of", "the", "UBE3A", "/", "E6", "-", "AP", "gene", "and", "related", "pseudogenes", ".", "The", "UBE3A", "gene", "encodes", "the", "E6", "-", "AP", "ubiquitin", "-", "protein", "ligase", "and", "has", "recently", "been", "shown"...	[ 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, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9467011	[ "Mutation", "spectrum", "and", "genotype", "-", "phenotype", "analyses", "in", "Cowden", "disease", "and", "Bannayan", "-", "Zonana", "syndrome", ",", "two", "hamartoma", "syndromes", "with", "germline", "PTEN", "mutation", ".", "The", "tumour", "suppressor", "g...	[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 4, 4, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 7, 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, 0, 0, 0, 0, 0, 0, 0, 1...
9472666	[ "Molecular", "defects", "leading", "to", "human", "complement", "component", "C6", "deficiency", "in", "an", "African", "-", "American", "family", ".", "Complement", "component", "C6", "deficiency", "(", "C6D", ")", "was", "diagnosed", "in", "a", "16", "-", ...	[ 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 3, 0, 0, 3, 4, 0, 0, 0, 0...
9482572	[ "PAX6", "mutations", "reviewed", ".", "Mutations", "in", "PAX6", "are", "responsible", "for", "human", "aniridia", "and", "have", "also", "been", "found", "in", "patients", "with", "Peters", "anomaly", ",", "with", "congenital", "cataracts", ",", "with", "auto...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 3, 4, 0, 0, 3, 4, 4, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9497246	[ "Genetic", "heterogeneity", "and", "penetrance", "analysis", "of", "the", "BRCA1", "and", "BRCA2", "genes", "in", "breast", "cancer", "families", ".", "The", "Breast", "Cancer", "Linkage", "Consortium", ".", "The", "contribution", "of", "BRCA1", "and", "BRCA2", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0...
9506545	[ "Eye", "movement", "abnormalities", "correlate", "with", "genotype", "in", "autosomal", "dominant", "cerebellar", "ataxia", "type", "I", ".", "We", "compared", "horizontal", "eye", "movements", "(", "visually", "guided", "saccades", ",", "antisaccades", ",", "and"...	[ 1, 2, 2, 0, 0, 0, 0, 0, 0, 1, 2, 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, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 5, 6, 6, 6, 6, 0, 3, 0, 0, 0, 0, 0, 3, 0...
9521325	[ "Genetic", "basis", "and", "molecular", "mechanism", "for", "idiopathic", "ventricular", "fibrillation", ".", "Ventricular", "fibrillation", "causes", "more", "than", "300", ",", "000", "sudden", "deaths", "each", "year", "in", "the", "USA", "alone", ".", "In", ...	[ 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 4, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0...
9521421	[ "Molecular", "heterogeneity", "in", "mucopolysaccharidosis", "IVA", "in", "Australia", "and", "Northern", "Ireland", ":", "nine", "novel", "mutations", "including", "T312S", ",", "a", "common", "allele", "that", "confers", "a", "mild", "phenotype", ".", "Mucopolys...	[ 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9529364	[ "Identification", "of", "constitutional", "WT1", "mutations", ",", "in", "patients", "with", "isolated", "diffuse", "mesangial", "sclerosis", ",", "and", "analysis", "of", "genotype", "/", "phenotype", "correlations", "by", "use", "of", "a", "computerized", "mutat...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 3, 0, 0...
9536083	[ "The", "185delAG", "BRCA1", "mutation", "originated", "before", "the", "dispersion", "of", "Jews", "in", "the", "diaspora", "and", "is", "not", "limited", "to", "Ashkenazim", ".", "The", "185delAG", "mutation", "in", "BRCA1", "is", "detected", "in", "Ashkenazi...	[ 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, 0, 0, 5, 6, 6, 6, 6, 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...
9546397	[ "Crystal", "structure", "of", "the", "hemochromatosis", "protein", "HFE", "and", "characterization", "of", "its", "interaction", "with", "transferrin", "receptor", ".", "HFE", "is", "an", "MHC", "-", "related", "protein", "that", "is", "mutated", "in", "the", ...	[ 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 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...
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9563950	[ "Disruption", "of", "splicing", "regulated", "by", "a", "CUG", "-", "binding", "protein", "in", "myotonic", "dystrophy", ".", "Myotonic", "dystrophy", "(", "DM", ")", "is", "caused", "by", "a", "CTG", "expansion", "in", "the", "3", "untranslated", "region", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 7, 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...
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9792861	[ "Founder", "BRCA1", "and", "BRCA2", "mutations", "in", "French", "Canadian", "breast", "and", "ovarian", "cancer", "families", ".", "We", "have", "identified", "four", "mutations", "in", "each", "of", "the", "breast", "cancer", "-", "susceptibility", "genes", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 7, 8, 8, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0...
9800909	[ "Are", "Dp71", "and", "Dp140", "brain", "dystrophin", "isoforms", "related", "to", "cognitive", "impairment", "in", "Duchenne", "muscular", "dystrophy", "?", "Molecular", "study", "and", "neuropsychological", "analysis", "were", "performed", "concurrently", "on", "4...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9831355	[ "I1307K", "APC", "and", "hMLH1", "mutations", "in", "a", "non", "-", "Jewish", "family", "with", "hereditary", "non", "-", "polyposis", "colorectal", "cancer", ".", "We", "describe", "a", "French", "Canadian", "hereditary", "non", "-", "polyposis", "colorectal...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 8, 8, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0...
9843038	[ "Identification", "of", "a", "novel", "mutation", "of", "the", "CPO", "gene", "in", "a", "Japanese", "hereditary", "coproporphyria", "family", ".", "Hereditary", "coproporphyria", "(", "HCP", ")", "is", "an", "autosomal", "dominant", "disease", "characterized", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 3, 4, 0, 3, 0, 0, 0, 1, 2, 2, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0...
9848786	[ "Human", "complement", "factor", "H", "deficiency", "associated", "with", "hemolytic", "uremic", "syndrome", ".", "This", "study", "reports", "on", "six", "cases", "of", "deficiency", "in", "the", "human", "complement", "regulatory", "protein", "Factor", "H", "(...	[ 3, 4, 4, 4, 4, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9852676	[ "Further", "evidence", "for", "a", "major", "ancient", "mutation", "underlying", "myotonic", "dystrophy", "from", "linkage", "disequilibrium", "studies", "in", "the", "Japanese", "population", ".", "The", "myotonic", "dystrophy", "(", "DM", ")", "mutation", "is", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 7, 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, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0...
9856498	[ "The", "molecular", "basis", "of", "C6", "deficiency", "in", "the", "western", "Cape", ",", "South", "Africa", ".", "Deficiency", "of", "the", "sixth", "component", "of", "human", "complement", "(", "C6", ")", "has", "been", "reported", "in", "a", "number"...	[ 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0...
9856499	[ "Complement", "C7", "deficiency", ":", "seven", "further", "molecular", "defects", "and", "their", "associated", "marker", "haplotypes", ".", "Seven", "further", "molecular", "bases", "of", "C7", "deficiency", "are", "described", ".", "All", "these", "new", "mol...	[ 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9861003	[ "A", "genome", "-", "wide", "search", "for", "chromosomal", "loci", "linked", "to", "mental", "health", "wellness", "in", "relatives", "at", "high", "risk", "for", "bipolar", "affective", "disorder", "among", "the", "Old", "Order", "Amish", ".", "Bipolar", "...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 3, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9863607	[ "Segregation", "distortion", "in", "myotonic", "dystrophy", ".", "Myotonic", "dystrophy", "(", "DM", ")", "is", "an", "autosomal", "dominant", "disease", "which", ",", "in", "the", "typical", "pedigree", ",", "shows", "a", "three", "generation", "anticipation", ...	[ 0, 0, 0, 3, 4, 0, 3, 4, 0, 3, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9867744	[ "Diagnosis", "of", "hemochromatosis", ".", "If", "untreated", ",", "hemochromatosis", "can", "cause", "serious", "illness", "and", "early", "death", ",", "but", "the", "disease", "is", "still", "substantially", "under", "-", "diagnosed", ".", "The", "cornerstone...	[ 0, 0, 3, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 3, 4, 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, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9869602	[ "Prevalence", "of", "the", "I1307K", "APC", "gene", "variant", "in", "Israeli", "Jews", "of", "differing", "ethnic", "origin", "and", "risk", "for", "colorectal", "cancer", ".", "BACKGROUND", "&", "AIMS", "Israeli", "Jews", "of", "European", "birth", ",", "i...	[ 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9888388	[ "Systematic", "analysis", "of", "coproporphyrinogen", "oxidase", "gene", "defects", "in", "hereditary", "coproporphyria", "and", "mutation", "update", ".", "Hereditary", "coproporphyria", "(", "HC", ")", "is", "an", "acute", "hepatic", "porphyria", "with", "autosoma...	[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9888390	[ "Coincidence", "of", "two", "novel", "arylsulfatase", "A", "alleles", "and", "mutation", "459", "+", "1G", ">", "A", "within", "a", "family", "with", "metachromatic", "leukodystrophy", ":", "molecular", "basis", "of", "phenotypic", "heterogeneity", ".", "In", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9927033	[ "Human", "MLH1", "deficiency", "predisposes", "to", "hematological", "malignancy", "and", "neurofibromatosis", "type", "1", ".", "Heterozygous", "germ", "-", "line", "mutations", "in", "the", "DNA", "mismatch", "repair", "genes", "lead", "to", "hereditary", "nonpo...	[ 0, 0, 0, 0, 0, 1, 2, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8, 8, 8, 0, 0, 0, 1, 2, 0, 0...
9931324	[ "Missense", "mutations", "in", "the", "most", "ancient", "residues", "of", "the", "PAX6", "paired", "domain", "underlie", "a", "spectrum", "of", "human", "congenital", "eye", "malformations", ".", "Mutations", "of", "the", "human", "PAX6", "gene", "underlie", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
993342	[ "The", "chromosomal", "order", "of", "genes", "controlling", "the", "major", "histocompatibility", "complex", ",", "properdin", "factor", "B", ",", "and", "deficiency", "of", "the", "second", "component", "of", "complement", ".", "The", "relationship", "of", "th...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
9949197	[ "Distribution", "of", "emerin", "and", "lamins", "in", "the", "heart", "and", "implications", "for", "Emery", "-", "Dreifuss", "muscular", "dystrophy", ".", "Emerin", "is", "a", "nuclear", "membrane", "protein", "which", "is", "missing", "or", "defective", "in...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 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, 0, 0, 0, 0, 0...
9949209	[ "Genetic", "mapping", "of", "the", "copper", "toxicosis", "locus", "in", "Bedlington", "terriers", "to", "dog", "chromosome", "10", ",", "in", "a", "region", "syntenic", "to", "human", "chromosome", "region", "2p13", "-", "p16", ".", "Abnormal", "hepatic", "...	[ 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4...
9950360	[ "Molecular", "analysis", "of", "the", "APC", "gene", "in", "205", "families", ":", "extended", "genotype", "-", "phenotype", "correlations", "in", "FAP", "and", "evidence", "for", "the", "role", "of", "APC", "amino", "acid", "changes", "in", "colorectal", "c...	[ 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 7, 8, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 8...
9973276	[ "Inherited", "colorectal", "polyposis", "and", "cancer", "risk", "of", "the", "APC", "I1307K", "polymorphism", ".", "Germ", "-", "line", "and", "somatic", "truncating", "mutations", "of", "the", "APC", "gene", "are", "thought", "to", "initiate", "colorectal", ...	[ 3, 4, 4, 0, 7, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 0, 7, 8, 0, 0, 3, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0...
9988281	[ "Localization", "of", "human", "BRCA1", "and", "its", "loss", "in", "high", "-", "grade", ",", "non", "-", "inherited", "breast", "carcinomas", ".", "Although", "the", "link", "between", "the", "BRCA1", "tumour", "-", "suppressor", "gene", "and", "hereditary...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 4, 4, 4, 4, 0, 0, 0, 0, 0, 0, 0, 7, 0, 0, 0, 0, 5, 6, 6, 6, 6, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 0, 0, 0, 0...

9371490

[ "Frequent", "inactivation", "of", "PTEN", "/", "MMAC1", "in", "primary", "prostate", "cancer", ".", "Sporadic", "prostate", "carcinoma", "is", "the", "most", "common", "male", "cancer", "in", "the", "Western", "world", ",", "yet", "many", "of", "the", "major...

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9382108

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9385378

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9391879

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9391889

[ "Paternal", "transmission", "of", "congenital", "myotonic", "dystrophy", ".", "We", "report", "a", "rare", "case", "of", "paternally", "transmitted", "congenital", "myotonic", "dystrophy", "(", "DM", ")", ".", "The", "proband", "is", "a", "23", "year", "old", ...

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9400934

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941901

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9420335

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9425228

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9425239

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9427148

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9439660

[ "Detection", "of", "heterozygous", "carriers", "of", "the", "ataxia", "-", "telangiectasia", "(", "ATM", ")", "gene", "by", "G2", "phase", "chromosomal", "radiosensitivity", "of", "peripheral", "blood", "lymphocytes", ".", "In", "ataxia", "-", "telangiectasia", ...

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9443866

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9448273

[ "The", "von", "Hippel", "-", "Lindau", "tumor", "suppressor", "gene", "is", "required", "for", "cell", "cycle", "exit", "upon", "serum", "withdrawal", ".", "The", "inactivation", "of", "the", "von", "Hippel", "-", "Lindau", "(", "VHL", ")", "tumor", "suppr...

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9450866

[ "Piebaldism", "with", "deafness", ":", "molecular", "evidence", "for", "an", "expanded", "syndrome", ".", "In", "a", "South", "African", "girl", "of", "Xhosa", "stock", "with", "severe", "piebaldism", "and", "profound", "congenital", "sensorineural", "deafness", ...

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9457913

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9457914

[ "A", "deletion", "mutation", "in", "COL17A1", "in", "five", "Austrian", "families", "with", "generalized", "atrophic", "benign", "epidermolysis", "bullosa", "represents", "propagation", "of", "an", "ancestral", "allele", ".", "Patients", "with", "generalized", "atro...

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9463309

[ "The", "haptoglobin", "-", "gene", "deletion", "responsible", "for", "anhaptoglobinemia", ".", "We", "have", "found", "an", "allelic", "deletion", "of", "the", "haptoglobin", "(", "Hp", ")", "gene", "from", "an", "individual", "with", "anhaptoglobinemia", ".", ...

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9463314

[ "ATM", "mutations", "and", "phenotypes", "in", "ataxia", "-", "telangiectasia", "families", "in", "the", "British", "Isles", ":", "expression", "of", "mutant", "ATM", "and", "the", "risk", "of", "leukemia", ",", "lymphoma", ",", "and", "breast", "cancer", "....

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9463318

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9465039

[ "The", "hemochromatosis", "gene", "product", "complexes", "with", "the", "transferrin", "receptor", "and", "lowers", "its", "affinity", "for", "ligand", "binding", ".", "We", "recently", "reported", "the", "positional", "cloning", "of", "a", "candidate", "gene", ...

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9465301

[ "Genomic", "organization", "of", "the", "UBE3A", "/", "E6", "-", "AP", "gene", "and", "related", "pseudogenes", ".", "The", "UBE3A", "gene", "encodes", "the", "E6", "-", "AP", "ubiquitin", "-", "protein", "ligase", "and", "has", "recently", "been", "shown"...

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9467011

[ "Mutation", "spectrum", "and", "genotype", "-", "phenotype", "analyses", "in", "Cowden", "disease", "and", "Bannayan", "-", "Zonana", "syndrome", ",", "two", "hamartoma", "syndromes", "with", "germline", "PTEN", "mutation", ".", "The", "tumour", "suppressor", "g...

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9472666

[ "Molecular", "defects", "leading", "to", "human", "complement", "component", "C6", "deficiency", "in", "an", "African", "-", "American", "family", ".", "Complement", "component", "C6", "deficiency", "(", "C6D", ")", "was", "diagnosed", "in", "a", "16", "-", ...

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9482572

[ "PAX6", "mutations", "reviewed", ".", "Mutations", "in", "PAX6", "are", "responsible", "for", "human", "aniridia", "and", "have", "also", "been", "found", "in", "patients", "with", "Peters", "anomaly", ",", "with", "congenital", "cataracts", ",", "with", "auto...

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9497246

[ "Genetic", "heterogeneity", "and", "penetrance", "analysis", "of", "the", "BRCA1", "and", "BRCA2", "genes", "in", "breast", "cancer", "families", ".", "The", "Breast", "Cancer", "Linkage", "Consortium", ".", "The", "contribution", "of", "BRCA1", "and", "BRCA2", ...

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9506545

[ "Eye", "movement", "abnormalities", "correlate", "with", "genotype", "in", "autosomal", "dominant", "cerebellar", "ataxia", "type", "I", ".", "We", "compared", "horizontal", "eye", "movements", "(", "visually", "guided", "saccades", ",", "antisaccades", ",", "and"...

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9521325

[ "Genetic", "basis", "and", "molecular", "mechanism", "for", "idiopathic", "ventricular", "fibrillation", ".", "Ventricular", "fibrillation", "causes", "more", "than", "300", ",", "000", "sudden", "deaths", "each", "year", "in", "the", "USA", "alone", ".", "In", ...

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9521421

[ "Molecular", "heterogeneity", "in", "mucopolysaccharidosis", "IVA", "in", "Australia", "and", "Northern", "Ireland", ":", "nine", "novel", "mutations", "including", "T312S", ",", "a", "common", "allele", "that", "confers", "a", "mild", "phenotype", ".", "Mucopolys...

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9529364

[ "Identification", "of", "constitutional", "WT1", "mutations", ",", "in", "patients", "with", "isolated", "diffuse", "mesangial", "sclerosis", ",", "and", "analysis", "of", "genotype", "/", "phenotype", "correlations", "by", "use", "of", "a", "computerized", "mutat...

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9536083

[ "The", "185delAG", "BRCA1", "mutation", "originated", "before", "the", "dispersion", "of", "Jews", "in", "the", "diaspora", "and", "is", "not", "limited", "to", "Ashkenazim", ".", "The", "185delAG", "mutation", "in", "BRCA1", "is", "detected", "in", "Ashkenazi...

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9546397

[ "Crystal", "structure", "of", "the", "hemochromatosis", "protein", "HFE", "and", "characterization", "of", "its", "interaction", "with", "transferrin", "receptor", ".", "HFE", "is", "an", "MHC", "-", "related", "protein", "that", "is", "mutated", "in", "the", ...

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9554743

[ "Identification", "of", "three", "novel", "mutations", "and", "a", "high", "frequency", "of", "the", "Arg778Leu", "mutation", "in", "Korean", "patients", "with", "Wilson", "disease", ".", "Four", "mutations", "-", "-", "R778L", ",", "A874V", ",", "L1083F", "...

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9563950

[ "Disruption", "of", "splicing", "regulated", "by", "a", "CUG", "-", "binding", "protein", "in", "myotonic", "dystrophy", ".", "Myotonic", "dystrophy", "(", "DM", ")", "is", "caused", "by", "a", "CTG", "expansion", "in", "the", "3", "untranslated", "region", ...

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9580132

[ "Identification", "of", "a", "novel", "nonsense", "mutation", "and", "a", "missense", "substitution", "in", "the", "vasopressin", "-", "neurophysin", "II", "gene", "in", "two", "Spanish", "kindreds", "with", "familial", "neurohypophyseal", "diabetes", "insipidus", ...

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9585583

[ "Genetic", "heterogeneity", "of", "Saethre", "-", "Chotzen", "syndrome", ",", "due", "to", "TWIST", "and", "FGFR", "mutations", ".", "Thirty", "-", "two", "unrelated", "patients", "with", "features", "of", "Saethre", "-", "Chotzen", "syndrome", ",", "a", "co...

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9585605

[ "Mutation", "analysis", "of", "UBE3A", "in", "Angelman", "syndrome", "patients", ".", "Angelman", "syndrome", "(", "AS", ")", "is", "caused", "by", "chromosome", "15q11", "-", "q13", "deletions", "of", "maternal", "origin", ",", "by", "paternal", "uniparental"...

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9585606

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9585611

[ "Genotype", "-", "phenotype", "correlations", "in", "attenuated", "adenomatous", "polyposis", "coli", ".", "Germ", "-", "line", "mutations", "of", "the", "tumor", "suppressor", "APC", "are", "implicated", "in", "attenuated", "adenomatous", "polyposis", "coli", "("...

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9590178

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9590284

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9603435

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9689113

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9702690

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9703418

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9703501

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9709714

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9714764

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9724771

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9729124

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9731533

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9733027

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9771706

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9774970

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9790667

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9792409

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9843038

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9848786

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9852676

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9856498

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9856499

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9861003

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9863607

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9867744

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9869602

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9888388

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9888390

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9927033

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9931324

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993342

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9949197

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9949209

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9950360

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9973276

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9988281

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