id stringlengths 4 15 | tokens listlengths 1 1.01k | ner_tags listlengths 1 1.01k |
|---|---|---|
10472529 | [
"Large",
"heterozygous",
"deletion",
"masquerading",
"as",
"homozygous",
"missense",
"mutation",
":",
"a",
"pitfall",
"in",
"diagnostic",
"mutation",
"analysis",
".",
"The",
"clinical",
"use",
"of",
"molecular",
"analyses",
"in",
"recessive",
"disorders",
"relies",
... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
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,
... |
10480214 | [
"Early",
"onset",
"of",
"X",
"-",
"linked",
"Emery",
"-",
"Dreifuss",
"muscular",
"dystrophy",
"in",
"a",
"boy",
"with",
"emerin",
"gene",
"deletion",
".",
"A",
"boy",
"developed",
"contractures",
"of",
"the",
"Achilles",
"tendons",
"at",
"3",
"years",
"an... | [
0,
0,
0,
1,
2,
2,
2,
2,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
58,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
58,
58,
0,
57,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10480348 | [
"Duchenne",
"/",
"Becker",
"muscular",
"dystrophy",
":",
"correlation",
"of",
"phenotype",
"by",
"electroretinography",
"with",
"sites",
"of",
"dystrophin",
"mutations",
".",
"The",
"dark",
"-",
"adapted",
"electroretinogram",
"(",
"ERG",
")",
"of",
"patients",
... | [
11,
12,
12,
12,
12,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
11,
12,
12,
12,
12,
0,
1,
0,
1,
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... |
10484765 | [
"Cis",
"and",
"trans",
"effects",
"of",
"the",
"myotonic",
"dystrophy",
"(",
"DM",
")",
"mutation",
"in",
"a",
"cell",
"culture",
"model",
".",
"The",
"mutation",
"causing",
"myotonic",
"dystrophy",
"(",
"DM",
")",
"has",
"been",
"identified",
"as",
"a",
... | [
0,
0,
0,
0,
0,
0,
79,
80,
0,
79,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,... |
10484772 | [
"Coats",
"'",
"disease",
"of",
"the",
"retina",
"(",
"unilateral",
"retinal",
"telangiectasis",
")",
"caused",
"by",
"somatic",
"mutation",
"in",
"the",
"NDP",
"gene",
":",
"a",
"role",
"for",
"norrin",
"in",
"retinal",
"angiogenesis",
".",
"Coats",
"disease... | [
1,
2,
2,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
57,
58,
58,
58,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
11,
12,
12,
12,
12,
0,
57,
58,
58,
0,
0,
0,
0,
... |
10484981 | [
"Hereditary",
"TP53",
"codon",
"292",
"and",
"somatic",
"P16INK4A",
"codon",
"94",
"mutations",
"in",
"a",
"Li",
"-",
"Fraumeni",
"syndrome",
"family",
".",
"Li",
"-",
"Fraumeni",
"syndrome",
"is",
"an",
"autosomal",
"dominant",
"disorder",
"that",
"is",
"ch... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
80,
80,
0,
0,
1,
2,
2,
2,
0,
0,
57,
58,
58,
0,
0,
0,
0,
0,
0,
0,
57,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,... |
10487695 | [
"A",
"novel",
"mutation",
"in",
"the",
"sodium",
"/",
"iodide",
"symporter",
"gene",
"in",
"the",
"largest",
"family",
"with",
"iodide",
"transport",
"defect",
".",
"We",
"previously",
"reported",
"nine",
"children",
"with",
"an",
"autosomally",
"recessive",
"... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
57,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
... |
10487710 | [
"Molecular",
"analysis",
"in",
"familial",
"neurohypophyseal",
"diabetes",
"insipidus",
":",
"early",
"diagnosis",
"of",
"an",
"asymptomatic",
"carrier",
".",
"Familial",
"neurohypophyseal",
"diabetes",
"insipidus",
"(",
"FNDI",
")",
"is",
"an",
"inherited",
"defici... | [
0,
0,
0,
1,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
0,
1,
0,
0,
0,
0,
57,
58,
58,
58,
58,
58,
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,
... |
10491763 | [
"Hepatocyte",
"nuclear",
"factor",
"-",
"6",
":",
"associations",
"between",
"genetic",
"variability",
"and",
"type",
"II",
"diabetes",
"and",
"between",
"genetic",
"variability",
"and",
"estimates",
"of",
"insulin",
"secretion",
".",
"The",
"transcription",
"fact... | [
73,
74,
74,
74,
74,
0,
0,
0,
0,
0,
0,
43,
44,
44,
0,
0,
0,
0,
0,
0,
0,
73,
0,
0,
0,
0,
0,
73,
74,
74,
74,
74,
74,
74,
74,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
43,
44,
44,
44,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10500204 | [
"Deficit",
"of",
"in",
"vivo",
"mitochondrial",
"ATP",
"production",
"in",
"patients",
"with",
"Friedreich",
"ataxia",
".",
"Friedreich",
"ataxia",
"(",
"FRDA",
")",
",",
"the",
"most",
"common",
"of",
"the",
"inherited",
"ataxias",
",",
"is",
"an",
"autosom... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
57,
58,
0,
0,
0,
57,
58,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
11,
12,
12,
12,
12,
0,
57,
58,
58,
58,
58,
0,
57,
58,
58,
0,... |
10502833 | [
"Identification",
"of",
"a",
"novel",
"R21X",
"mutation",
"in",
"the",
"liver",
"-",
"type",
"arginase",
"gene",
"(",
"ARG1",
")",
"in",
"four",
"Portuguese",
"patients",
"with",
"argininemia",
".",
"Argininemia",
"is",
"a",
"rare",
"autossomal",
"recessive",
... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
1,
0,
0,
0,
57,
58,
58,
0,
0,
57,
58,
58,
58,
58,
58,
58,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10519880 | [
"Mutation",
"of",
"the",
"sterol",
"27",
"-",
"hydroxylase",
"gene",
"(",
"CYP27",
")",
"results",
"in",
"truncation",
"of",
"mRNA",
"expressed",
"in",
"leucocytes",
"in",
"a",
"Japanese",
"family",
"with",
"cerebrotendinous",
"xanthomatosis",
".",
"OBJECTIVES",... | [
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,
1,
2,
0,
1,
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... |
10520387 | [
"The",
"haemodynamic",
"effects",
"of",
"propofol",
"in",
"combination",
"with",
"ephedrine",
"in",
"elderly",
"patients",
"(",
"ASA",
"groups",
"3",
"and",
"4",
")",
".",
"The",
"marked",
"vasodilator",
"and",
"negative",
"inotropic",
"effects",
"of",
"propof... | [
0,
0,
0,
0,
61,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
61,
0,
0,
0,
0,
0,
25,
0,
0,
0,
0,
0,
0,
... |
10521293 | [
"Clinical",
"and",
"molecular",
"genetic",
"analysis",
"of",
"19",
"Wolfram",
"syndrome",
"kindreds",
"demonstrating",
"a",
"wide",
"spectrum",
"of",
"mutations",
"in",
"WFS1",
".",
"Wolfram",
"syndrome",
"is",
"an",
"autosomal",
"recessive",
"neurodegenerative",
... | [
0,
0,
0,
0,
0,
0,
0,
79,
80,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
57,
58,
58,
58,
0,
0,
1,
2,
2,
2,
2,
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,
... |
10523326 | [
"Nitric",
"oxide",
"synthase",
"expression",
"in",
"the",
"course",
"of",
"lead",
"-",
"induced",
"hypertension",
".",
"We",
"recently",
"showed",
"elevated",
"reactive",
"oxygen",
"species",
"(",
"ROS",
")",
",",
"reduced",
"urinary",
"excretion",
"of",
"NO",... | [
61,
62,
0,
0,
0,
0,
0,
0,
61,
0,
0,
25,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
61,
0,
0,
0,
0,
0,
0,
61,
0,
0,
25,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... |
10524660 | [
"Glyceryl",
"trinitrate",
"induces",
"attacks",
"of",
"migraine",
"without",
"aura",
"in",
"sufferers",
"of",
"migraine",
"with",
"aura",
".",
"Migraine",
"with",
"aura",
"and",
"migraine",
"without",
"aura",
"have",
"the",
"same",
"pain",
"phase",
",",
"thus"... | [
61,
62,
0,
0,
0,
25,
26,
26,
0,
0,
0,
25,
26,
26,
0,
25,
26,
26,
0,
25,
26,
26,
0,
0,
0,
25,
0,
0,
0,
0,
0,
25,
26,
26,
0,
25,
26,
26,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
62,
... |
10526274 | [
"Gemcitabine",
"plus",
"vinorelbine",
"in",
"nonsmall",
"cell",
"lung",
"carcinoma",
"patients",
"age",
"70",
"years",
"or",
"older",
"or",
"patients",
"who",
"cannot",
"receive",
"cisplatin",
".",
"Oncopaz",
"Cooperative",
"Group",
".",
"BACKGROUND",
":",
"Alth... | [
61,
0,
61,
0,
25,
26,
26,
26,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
25,
26,
26,
26,
0,
25,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
25,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10528243 | [
"Late",
"-",
"onset",
"familial",
"Mediterranean",
"fever",
"(",
"FMF",
")",
":",
"a",
"subset",
"with",
"distinct",
"clinical",
",",
"demographic",
",",
"and",
"molecular",
"genetic",
"characteristics",
".",
"To",
"determine",
"the",
"prevalence",
"and",
"cha... | [
0,
0,
0,
1,
2,
2,
0,
1,
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,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10528853 | [
"A",
"highly",
"accurate",
",",
"low",
"cost",
"test",
"for",
"BRCA1",
"mutations",
".",
"The",
"hereditary",
"breast",
"and",
"ovarian",
"cancer",
"syndrome",
"is",
"associated",
"with",
"a",
"high",
"frequency",
"of",
"BRCA1",
"mutations",
".",
"However",
... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
11,
12,
12,
12,
12,
12,
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,
... |
10528860 | [
"Maternal",
"uniparental",
"disomy",
"for",
"chromosome",
"14",
"in",
"a",
"boy",
"with",
"a",
"normal",
"karyotype",
".",
"We",
"report",
"on",
"a",
"boy",
"with",
"a",
"maternal",
"uniparental",
"disomy",
"for",
"chromosome",
"14",
"(",
"UPD",
"(",
"14",... | [
1,
2,
2,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
2,
2,
0,
1,
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,
0,
1,
0,
0,
0,
0,
57,
58,
... |
10533019 | [
"Rapid",
"reversal",
"of",
"life",
"-",
"threatening",
"diltiazem",
"-",
"induced",
"tetany",
"with",
"calcium",
"chloride",
".",
"We",
"describe",
"a",
"patient",
"who",
"developed",
"tetany",
"with",
"sudden",
"respiratory",
"arrest",
"after",
"the",
"infusion... | [
0,
0,
0,
0,
0,
0,
61,
0,
0,
25,
0,
61,
62,
0,
0,
0,
0,
0,
0,
0,
25,
0,
0,
25,
26,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
61,
62,
0,
0,
0,
0,
0,
0,
25,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10533031 | [
"Clinical",
"and",
"genetic",
"study",
"of",
"Friedreich",
"ataxia",
"in",
"an",
"Australian",
"population",
".",
"Friedreich",
"ataxia",
"is",
"an",
"autosomal",
"recessive",
"disorder",
"caused",
"by",
"mutations",
"in",
"the",
"FRDA",
"gene",
"that",
"encodes... | [
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
1,
2,
0,
0,
57,
58,
58,
0,
0,
0,
0,
0,
79,
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,... |
10533068 | [
"Novel",
"mutations",
"in",
"XLRS1",
"causing",
"retinoschisis",
",",
"including",
"first",
"evidence",
"of",
"putative",
"leader",
"sequence",
"change",
".",
"Juvenile",
"retinoschisis",
"is",
"an",
"X",
"-",
"linked",
"recessive",
"disease",
"caused",
"by",
"m... | [
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
57,
58,
58,
58,
58,
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,
79,
0,
0,
0,
0,
0,
... |
10539815 | [
"Predictors",
"of",
"decreased",
"renal",
"function",
"in",
"patients",
"with",
"heart",
"failure",
"during",
"angiotensin",
"-",
"converting",
"enzyme",
"inhibitor",
"therapy",
":",
"results",
"from",
"the",
"studies",
"of",
"left",
"ventricular",
"dysfunction",
... | [
0,
0,
25,
26,
26,
0,
0,
0,
25,
26,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
25,
26,
26,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
25,
26,
26,
0,
25,
0,
0,
0,
0,
0,
0,
25,
26,
26,
0,
0,
... |
10541953 | [
"Growth",
"hormone",
"treatment",
"increases",
"CO",
"(",
"2",
")",
"response",
",",
"ventilation",
"and",
"central",
"inspiratory",
"drive",
"in",
"children",
"with",
"Prader",
"-",
"Willi",
"syndrome",
".",
"We",
"studied",
"whether",
"the",
"beneficial",
"e... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
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,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... |
10543403 | [
"G130V",
",",
"a",
"common",
"FRDA",
"point",
"mutation",
",",
"appears",
"to",
"have",
"arisen",
"from",
"a",
"common",
"founder",
".",
"Friedreich",
"ataxia",
"(",
"FRDA",
")",
"is",
"the",
"most",
"common",
"inherited",
"ataxia",
".",
"About",
"98",
"... | [
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
57,
58,
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,
... |
10545613 | [
"Synergistic",
"effect",
"of",
"histone",
"hyperacetylation",
"and",
"DNA",
"demethylation",
"in",
"the",
"reactivation",
"of",
"the",
"FMR1",
"gene",
".",
"Most",
"fragile",
"X",
"syndrome",
"patients",
"have",
"expansion",
"of",
"a",
"(",
"CGG",
")",
"(",
... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
80,
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,
... |
10554035 | [
"Constitutional",
"von",
"Hippel",
"-",
"Lindau",
"(",
"VHL",
")",
"gene",
"deletions",
"detected",
"in",
"VHL",
"families",
"by",
"fluorescence",
"in",
"situ",
"hybridization",
".",
"von",
"Hippel",
"-",
"Lindau",
"(",
"VHL",
")",
"disease",
"is",
"an",
"... | [
0,
79,
80,
80,
80,
0,
79,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
2,
2,
2,
2,
0,
0,
57,
58,
58,
58,
58,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
57,
0,
57,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
11,
12,
... |
10556283 | [
"Spectrum",
"of",
"hSNF5",
"/",
"INI1",
"somatic",
"mutations",
"in",
"human",
"cancer",
"and",
"genotype",
"-",
"phenotype",
"correlations",
".",
"The",
"hSNF5",
"/",
"INI1",
"gene",
"which",
"encodes",
"a",
"member",
"of",
"the",
"SWI",
"/",
"SNF",
"chro... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
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,
79,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
58,
0,
0,
0,
0... |
10556285 | [
"Ataxin",
"-",
"3",
"with",
"an",
"altered",
"conformation",
"that",
"exposes",
"the",
"polyglutamine",
"domain",
"is",
"associated",
"with",
"the",
"nuclear",
"matrix",
".",
"Spinocerebellar",
"ataxia",
"type",
"-",
"3",
"or",
"Machado",
"-",
"Joseph",
"disea... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
2,
0,
1,
2,
2,
2,
0,
1,
0,
1,
0,
0,
0,
0,
0,
0,
57,
58,
58,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... |
10556298 | [
"The",
"human",
"MAGEL2",
"gene",
"and",
"its",
"mouse",
"homologue",
"are",
"paternally",
"expressed",
"and",
"mapped",
"to",
"the",
"Prader",
"-",
"Willi",
"region",
".",
"Prader",
"-",
"Willi",
"syndrome",
"(",
"PWS",
")",
"is",
"a",
"complex",
"neuroge... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
80,
0,
0,
1,
2,
2,
2,
0,
1,
0,
0,
0,
0,
57,
58,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10557309 | [
"cDNA",
"microarrays",
"detect",
"activation",
"of",
"a",
"myogenic",
"transcription",
"program",
"by",
"the",
"PAX3",
"-",
"FKHR",
"fusion",
"oncogene",
".",
"Alveolar",
"rhabdomyosarcoma",
"is",
"an",
"aggressive",
"pediatric",
"cancer",
"of",
"striated",
"muscl... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
1,
2,
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,
0,
0,
0,
0... |
10557317 | [
"Experimental",
"hemochromatosis",
"due",
"to",
"MHC",
"class",
"I",
"HFE",
"deficiency",
":",
"immune",
"status",
"and",
"iron",
"metabolism",
".",
"The",
"puzzling",
"linkage",
"between",
"genetic",
"hemochromatosis",
"and",
"histocompatibility",
"loci",
"became",... | [
0,
1,
0,
0,
0,
0,
0,
1,
2,
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,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... |
1056013 | [
"Somatic",
"rearrangement",
"of",
"chromosome",
"14",
"in",
"human",
"lymphocytes",
".",
"Ataxia",
"-",
"telangiectasia",
"is",
"a",
"rare",
"genetic",
"disorder",
"associated",
"with",
"immune",
"deficiency",
",",
"chromosome",
"instability",
",",
"and",
"a",
"... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
57,
58,
0,
0,
57,
58,
0,
57,
58,
0,
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,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10565806 | [
"Hypomania",
"-",
"like",
"syndrome",
"induced",
"by",
"olanzapine",
".",
"We",
"report",
"a",
"female",
"patient",
"with",
"a",
"diagnosis",
"of",
"a",
"not",
"otherwise",
"specified",
"psychotic",
"disorder",
"(",
"DSM",
"-",
"IV",
")",
"who",
"developed",... | [
25,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
25,
26,
0,
0,
0,
0,
0,
0,
0,
25,
0,
0,
0,
0,
0,
61,
0,
0
] |
10571943 | [
"Exon",
"9",
"mutations",
"in",
"the",
"WT1",
"gene",
",",
"without",
"influencing",
"KTS",
"splice",
"isoforms",
",",
"are",
"also",
"responsible",
"for",
"Frasier",
"syndrome",
".",
"We",
"report",
"new",
"mutations",
"in",
"exon",
"9",
"of",
"the",
"WT1... | [
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,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... |
10571950 | [
"Splice",
"-",
"site",
"mutation",
"in",
"the",
"PDS",
"gene",
"may",
"result",
"in",
"intrafamilial",
"variability",
"for",
"deafness",
"in",
"Pendred",
"syndrome",
".",
"Pendred",
"syndrome",
"is",
"a",
"recessive",
"inherited",
"disorder",
"that",
"consists",... | [
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
1,
0,
1,
2,
0,
1,
2,
0,
0,
57,
58,
58,
0,
0,
0,
57,
58,
58,
58,
58,
0,
1,
2,
2,
0,
0,
1,
2,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,... |
10577908 | [
"The",
"molecular",
"basis",
"of",
"Sjogren",
"-",
"Larsson",
"syndrome",
":",
"mutation",
"analysis",
"of",
"the",
"fatty",
"aldehyde",
"dehydrogenase",
"gene",
".",
"Sjogren",
"-",
"Larsson",
"syndrome",
"(",
"SLS",
")",
"is",
"an",
"autosomal",
"recessive",... | [
0,
0,
0,
0,
1,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
0,
1,
0,
0,
0,
57,
58,
58,
0,
0,
57,
0,
57,
58,
0,
57,
0,
0,
1,
2,
2,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
... |
10579464 | [
"A",
"selective",
"dopamine",
"D4",
"receptor",
"antagonist",
",",
"NRA0160",
":",
"a",
"preclinical",
"neuropharmacological",
"profile",
".",
"NRA0160",
",",
"5",
"-",
"[",
"2",
"-",
"(",
"4",
"-",
"(",
"3",
"-",
"fluorobenzylidene",
")",
"piperidin",
"-"... | [
0,
0,
61,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
61,
0,
61,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
62,
0,
0,
0,
0,
0,
0,
... |
10581027 | [
"Loss",
"-",
"of",
"-",
"function",
"mutations",
"in",
"the",
"cathepsin",
"C",
"gene",
"result",
"in",
"periodontal",
"disease",
"and",
"palmoplantar",
"keratosis",
".",
"Papillon",
"-",
"Lefevre",
"syndrome",
",",
"or",
"keratosis",
"palmoplantaris",
"with",
... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
57,
58,
0,
1,
2,
2,
2,
0,
0,
57,
58,
0,
1,
0,
1,
0,
0,
0,
0,
0,
0,
0,
57,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10589394 | [
"Confirmation",
"of",
"linkage",
"of",
"Van",
"der",
"Woude",
"syndrome",
"to",
"chromosome",
"1q32",
":",
"evidence",
"of",
"association",
"with",
"STR",
"alleles",
"suggests",
"possible",
"unique",
"origin",
"of",
"the",
"disease",
"mutation",
".",
"Van",
"d... | [
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,
1,
2,
2,
2,
0,
1,
0,
0,
0,
57,
58,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
1,
2,... |
10590055 | [
"A",
"point",
"mutation",
"Thr",
"(",
"799",
")",
"Met",
"on",
"the",
"alpha",
"(",
"2",
")",
"integrin",
"leads",
"to",
"the",
"formation",
"of",
"new",
"human",
"platelet",
"alloantigen",
"Sit",
"(",
"a",
")",
"and",
"affects",
"collagen",
"-",
"indu... | [
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,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
0... |
10593994 | [
"Mutations",
"of",
"the",
"cathepsin",
"C",
"gene",
"are",
"responsible",
"for",
"Papillon",
"-",
"Lefevre",
"syndrome",
".",
"Papillon",
"-",
"Lefevre",
"syndrome",
"(",
"PLS",
")",
"is",
"an",
"autosomal",
"recessive",
"disorder",
"characterised",
"by",
"pal... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
0,
1,
2,
2,
2,
0,
1,
0,
0,
0,
57,
58,
58,
0,
0,
1,
2,
0,
0,
0,
0,
1,
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,
... |
10594001 | [
"Mutational",
"analysis",
"of",
"the",
"HGO",
"gene",
"in",
"Finnish",
"alkaptonuria",
"patients",
".",
"Alkaptonuria",
"(",
"AKU",
")",
",",
"the",
"prototypic",
"inborn",
"error",
"of",
"metabolism",
",",
"has",
"recently",
"been",
"shown",
"to",
"be",
"ca... | [
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
1,
0,
1,
0,
0,
0,
0,
57,
58,
58,
58,
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,
79,
0,
0,
0,
0,
... |
10598803 | [
"The",
"identical",
"5",
"'",
"splice",
"-",
"site",
"acceptor",
"mutation",
"in",
"five",
"attenuated",
"APC",
"families",
"from",
"Newfoundland",
"demonstrates",
"a",
"founder",
"effect",
".",
"Inherited",
"mutations",
"of",
"the",
"APC",
"gene",
"predispose",... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
11,
12,
12,
12,
12,
12,
12,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10598815 | [
"Alstrom",
"syndrome",
":",
"further",
"evidence",
"for",
"linkage",
"to",
"human",
"chromosome",
"2p13",
".",
"Alstrom",
"syndrome",
"is",
"a",
"rare",
"autosomal",
"recessive",
"disorder",
"characterized",
"by",
"retinal",
"degeneration",
",",
"sensorineural",
"... | [
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
57,
58,
58,
0,
0,
1,
2,
0,
1,
2,
2,
0,
0,
0,
0,
1,
0,
0,
1,
2,
2,
2,
2,
2,
2,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10602116 | [
"Pendred",
"syndrome",
":",
"phenotypic",
"variability",
"in",
"two",
"families",
"carrying",
"the",
"same",
"PDS",
"missense",
"mutation",
".",
"Pendred",
"syndrome",
"comprises",
"congenital",
"sensorineural",
"hearing",
"loss",
",",
"thyroid",
"goiter",
",",
"a... | [
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
1,
2,
0,
1,
2,
2,
2,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7... |
10607954 | [
"Knobloch",
"syndrome",
"involving",
"midline",
"scalp",
"defect",
"of",
"the",
"frontal",
"region",
".",
"We",
"report",
"on",
"a",
"4",
"-",
"year",
"-",
"old",
"boy",
"with",
"Knobloch",
"syndrome",
".",
"He",
"has",
"vitreoretinal",
"degeneration",
",",
... | [
1,
2,
0,
57,
58,
58,
58,
58,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
1,
2,
0,
1,
2,
0,
1,
0,
1,
0,
1,
0,
0,
0,
1,
2,
2,
2,
0,
0,
0,
0,
0,
57,
58,
58,
58,
58,
58,
0,
0,
0,
0,
0,
... |
10612394 | [
"The",
"DNA",
"double",
"-",
"strand",
"break",
"repair",
"gene",
"hMRE11",
"is",
"mutated",
"in",
"individuals",
"with",
"an",
"ataxia",
"-",
"telangiectasia",
"-",
"like",
"disorder",
".",
"We",
"show",
"that",
"hypomorphic",
"mutations",
"in",
"hMRE11",
"... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
2,
2,
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,
2,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... |
10615125 | [
"Mutations",
"in",
"TNFRSF11A",
",",
"affecting",
"the",
"signal",
"peptide",
"of",
"RANK",
",",
"cause",
"familial",
"expansile",
"osteolysis",
".",
"Familial",
"expansile",
"osteolysis",
"(",
"FEO",
",",
"MIM",
"174810",
")",
"is",
"a",
"rare",
",",
"autos... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
1,
2,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
58,
58,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,... |
10618304 | [
"Cardiac",
"Na",
"(",
"+",
")",
"channel",
"dysfunction",
"in",
"Brugada",
"syndrome",
"is",
"aggravated",
"by",
"beta",
"(",
"1",
")",
"-",
"subunit",
".",
"BACKGROUND",
"Mutations",
"in",
"the",
"gene",
"encoding",
"the",
"human",
"cardiac",
"Na",
"(",
... | [
0,
0,
0,
0,
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,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
2,
0,
1,
0,
0,
1,
2,
2,
0,
1,
0,
0,
0... |
10631148 | [
"Meiotic",
"segregation",
"analysis",
"of",
"RB1",
"alleles",
"in",
"retinoblastoma",
"pedigrees",
"by",
"use",
"of",
"single",
"-",
"sperm",
"typing",
".",
"In",
"hereditary",
"retinoblastoma",
",",
"different",
"epidemiological",
"studies",
"have",
"indicated",
... | [
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
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,
... |
10633128 | [
"Friedreich",
"ataxia",
":",
"an",
"overview",
".",
"Friedreich",
"ataxia",
",",
"an",
"autosomal",
"recessive",
"neurodegenerative",
"disease",
",",
"is",
"the",
"most",
"common",
"of",
"the",
"inherited",
"ataxias",
".",
"The",
"recent",
"discovery",
"of",
"... | [
1,
2,
0,
0,
0,
0,
1,
2,
0,
0,
57,
58,
58,
58,
0,
0,
0,
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,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,... |
10636421 | [
"X",
"-",
"linked",
"retinoschisis",
"with",
"point",
"mutations",
"in",
"the",
"XLRS1",
"gene",
".",
"BACKGROUND",
"X",
"-",
"linked",
"retinoschisis",
"(",
"XLRS",
")",
"is",
"a",
"relatively",
"rare",
"vitreoretinal",
"dystrophy",
"that",
"causes",
"visual"... | [
1,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
0,
1,
0,
0,
0,
0,
0,
57,
58,
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,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10639175 | [
"Atm",
"and",
"Bax",
"cooperate",
"in",
"ionizing",
"radiation",
"-",
"induced",
"apoptosis",
"in",
"the",
"central",
"nervous",
"system",
".",
"Ataxia",
"-",
"telangiectasia",
"is",
"a",
"hereditary",
"multisystemic",
"disease",
"resulting",
"from",
"mutations",
... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
57,
58,
58,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
0,
57,
0,
57,
58,
0,
0,
57,
58,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10661407 | [
"Langerin",
",",
"a",
"novel",
"C",
"-",
"type",
"lectin",
"specific",
"to",
"Langerhans",
"cells",
",",
"is",
"an",
"endocytic",
"receptor",
"that",
"induces",
"the",
"formation",
"of",
"Birbeck",
"granules",
".",
"We",
"have",
"identified",
"a",
"type",
... | [
73,
0,
0,
0,
73,
74,
74,
74,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
73,
74,
74,
74,
74,
74,
74,
0,
65,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
73,
0,
0,
0,
0,
0,
0,
0,... |
10662807 | [
"Haim",
"-",
"Munk",
"syndrome",
"and",
"Papillon",
"-",
"Lefevre",
"syndrome",
"are",
"allelic",
"mutations",
"in",
"cathepsin",
"C",
".",
"Of",
"the",
"many",
"palmoplantar",
"keratoderma",
"(",
"PPK",
")",
"conditions",
",",
"only",
"Papillon",
"-",
"Lefe... | [
1,
2,
2,
2,
0,
1,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
58,
58,
58,
58,
0,
0,
1,
2,
2,
2,
0,
1,
0,
0,
1,
2,
2,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
1,
0,
0,
0,
0,
0,
57,
0,
0,
... |
10669626 | [
"Warfarin",
"-",
"induced",
"artery",
"calcification",
"is",
"accelerated",
"by",
"growth",
"and",
"vitamin",
"D",
".",
"The",
"present",
"studies",
"demonstrate",
"that",
"growth",
"and",
"vitamin",
"D",
"treatment",
"enhance",
"the",
"extent",
"of",
"artery",
... | [
61,
0,
0,
25,
26,
0,
0,
0,
0,
0,
61,
62,
0,
0,
0,
0,
0,
0,
0,
0,
61,
62,
0,
0,
0,
0,
0,
25,
26,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
25,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10677309 | [
"ATM",
"-",
"heterozygous",
"germline",
"mutations",
"contribute",
"to",
"breast",
"cancer",
"-",
"susceptibility",
".",
"Approximately",
"0",
".",
"5",
"%",
"-",
"1",
"%",
"of",
"the",
"general",
"population",
"has",
"been",
"estimated",
"to",
"be",
"hetero... | [
0,
0,
0,
0,
0,
0,
0,
79,
80,
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,
57,
58,
58,
1,
2,
2,
0,
1,
2,
2,
0,
0,
0,
0,
0... |
10683478 | [
"Test",
"conditions",
"influence",
"the",
"response",
"to",
"a",
"drug",
"challenge",
"in",
"rodents",
".",
"These",
"studies",
"were",
"conducted",
"to",
"examine",
"the",
"differential",
"response",
"to",
"a",
"drug",
"challenge",
"under",
"varied",
"experimen... | [
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,
61,
0,
0,
0,
61,
62,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10692744 | [
"Acetazolamide",
"-",
"induced",
"Gerstmann",
"syndrome",
".",
"Acute",
"confusion",
"induced",
"by",
"acetazolamide",
"is",
"a",
"well",
"known",
"adverse",
"drug",
"reaction",
"in",
"patients",
"with",
"renal",
"impairment",
".",
"We",
"report",
"a",
"case",
... | [
61,
0,
0,
25,
26,
0,
0,
25,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
25,
26,
0,
0,
0,
0,
0,
0,
61,
0,
0,
25,
26,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
10698963 | [
"Human",
"mutations",
"in",
"glucose",
"6",
"-",
"phosphate",
"dehydrogenase",
"reflect",
"evolutionary",
"history",
".",
"Glucose",
"6",
"-",
"phosphate",
"dehydrogenase",
"(",
"G6PD",
")",
"is",
"a",
"cytosolic",
"enzyme",
"encoded",
"by",
"a",
"housekeeping",... | [
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,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
1... |
10699184 | [
"Constitutive",
"and",
"regulated",
"modes",
"of",
"splicing",
"produce",
"six",
"major",
"myotonic",
"dystrophy",
"protein",
"kinase",
"(",
"DMPK",
")",
"isoforms",
"with",
"distinct",
"properties",
".",
"Myotonic",
"dystrophy",
"(",
"DM",
")",
"is",
"the",
"... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
57,
58,
58,
0,
0,
0,
0,
57,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
0,
0,
0,
0,
0,
0,
0,... |
10704919 | [
"Hemolysis",
"of",
"human",
"erythrocytes",
"induced",
"by",
"tamoxifen",
"is",
"related",
"to",
"disruption",
"of",
"membrane",
"structure",
".",
"Tamoxifen",
"(",
"TAM",
")",
",",
"the",
"antiestrogenic",
"drug",
"most",
"widely",
"prescribed",
"in",
"the",
... | [
25,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
25,
26,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
25,
26,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,... |
10706004 | [
"Changes",
"of",
"sodium",
"and",
"ATP",
"affinities",
"of",
"the",
"cardiac",
"(",
"Na",
",",
"K",
")",
"-",
"ATPase",
"during",
"and",
"after",
"nitric",
"oxide",
"deficient",
"hypertension",
".",
"In",
"the",
"cardiovascular",
"system",
",",
"NO",
"is",... | [
0,
0,
61,
0,
61,
0,
0,
0,
0,
0,
61,
0,
61,
0,
0,
0,
0,
0,
0,
61,
62,
0,
25,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
25,
0,
0,
0,
0,
0,
25,
0,
0,
0,
0,
61,
0,
0,
... |
10706858 | [
"Genetic",
"analysis",
",",
"phenotypic",
"diagnosis",
",",
"and",
"risk",
"of",
"venous",
"thrombosis",
"in",
"families",
"with",
"inherited",
"deficiencies",
"of",
"protein",
"S",
".",
"Protein",
"S",
"deficiency",
"is",
"a",
"recognized",
"risk",
"factor",
... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
1,
2,
2,
2,
0,
1,
2,
2,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
57,
58,
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,
... |
10709732 | [
"Autoimmune",
"lymphoproliferative",
"syndrome",
"(",
"ALPS",
")",
"in",
"a",
"child",
"from",
"consanguineous",
"parents",
":",
"a",
"dominant",
"or",
"recessive",
"disease",
"?",
"Autoimmune",
"lymphoproliferative",
"syndrome",
"(",
"ALPS",
")",
"is",
"character... | [
1,
2,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
1,
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,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... |
10712201 | [
"Identification",
"of",
"novel",
"imprinted",
"transcripts",
"in",
"the",
"Prader",
"-",
"Willi",
"syndrome",
"and",
"Angelman",
"syndrome",
"deletion",
"region",
":",
"further",
"evidence",
"for",
"regional",
"imprinting",
"control",
".",
"Deletions",
"and",
"oth... | [
0,
0,
0,
0,
0,
0,
0,
79,
80,
80,
80,
0,
79,
80,
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,
0,
1,
0,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10712209 | [
"Combined",
"analysis",
"of",
"hereditary",
"prostate",
"cancer",
"linkage",
"to",
"1q24",
"-",
"25",
":",
"results",
"from",
"772",
"hereditary",
"prostate",
"cancer",
"families",
"from",
"the",
"International",
"Consortium",
"for",
"Prostate",
"Cancer",
"Genetic... | [
0,
0,
0,
79,
80,
80,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
80,
0,
0,
0,
0,
0,
0,
79,
80,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... |
10712225 | [
"A",
"recurrent",
"expansion",
"of",
"a",
"maternal",
"allele",
"with",
"36",
"CAG",
"repeats",
"causes",
"Huntington",
"disease",
"in",
"two",
"sisters",
".",
"Large",
"intergenerational",
"repeat",
"expansions",
"of",
"the",
"CAG",
"trinucleotide",
"repeat",
"... | [
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,
0,
0,
0,
0,
79,
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,
... |
10716718 | [
"Abnormal",
"development",
"of",
"Purkinje",
"cells",
"and",
"lymphocytes",
"in",
"Atm",
"mutant",
"mice",
".",
"Motor",
"incoordination",
",",
"immune",
"deficiencies",
",",
"and",
"an",
"increased",
"risk",
"of",
"cancer",
"are",
"the",
"characteristic",
"feat... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
0,
57,
58,
0,
0,
0,
0,
0,
0,
57,
0,
0,
0,
0,
0,
0,
57,
58,
1,
2,
2,
0,
1,
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,
... |
10721669 | [
"Novel",
"mutations",
"of",
"the",
"ATP7B",
"gene",
"in",
"Japanese",
"patients",
"with",
"Wilson",
"disease",
".",
"Wilson",
"disease",
"(",
"WD",
")",
"is",
"an",
"autosomal",
"recessive",
"disorder",
"characterized",
"by",
"copper",
"accumulation",
"in",
"t... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
2,
0,
1,
0,
0,
0,
57,
58,
58,
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,
... |
10721819 | [
"Effects",
"of",
"long",
"-",
"term",
"pretreatment",
"with",
"isoproterenol",
"on",
"bromocriptine",
"-",
"induced",
"tachycardia",
"in",
"conscious",
"rats",
".",
"It",
"has",
"been",
"shown",
"that",
"bromocriptine",
"-",
"induced",
"tachycardia",
",",
"which... | [
0,
0,
0,
0,
0,
0,
0,
61,
0,
61,
0,
0,
25,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
25,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10724160 | [
"Autoinhibition",
"and",
"activation",
"mechanisms",
"of",
"the",
"Wiskott",
"-",
"Aldrich",
"syndrome",
"protein",
".",
"The",
"Rho",
"-",
"family",
"GTPase",
",",
"Cdc42",
",",
"can",
"regulate",
"the",
"actin",
"cytoskeleton",
"through",
"activation",
"of",
... | [
0,
0,
0,
0,
0,
0,
79,
80,
80,
80,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
80,
80,
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,
... |
10724175 | [
"hCds1",
"-",
"mediated",
"phosphorylation",
"of",
"BRCA1",
"regulates",
"the",
"DNA",
"damage",
"response",
".",
"Mutations",
"in",
"the",
"BRCA1",
"(",
"ref",
".",
"1",
")",
"tumour",
"suppressor",
"gene",
"are",
"found",
"in",
"almost",
"all",
"of",
"th... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
11,
12,
12,
12,
12,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10728962 | [
"Vasopressin",
"in",
"the",
"treatment",
"of",
"milrinone",
"-",
"induced",
"hypotension",
"in",
"severe",
"heart",
"failure",
".",
"The",
"use",
"of",
"phosphodiesterase",
"inhibitors",
"such",
"as",
"milrinone",
"in",
"the",
"treatment",
"of",
"severe",
"heart... | [
61,
0,
0,
0,
0,
61,
0,
0,
25,
0,
0,
25,
26,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
25,
26,
0,
0,
0,
0,
0,
0,
0,
0,
25,
0,
0,
0,
0,
0,
25,
26,
0,
25,
0,
0,
0,
61,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,... |
10732811 | [
"Characterization",
"of",
"the",
"rat",
"spinocerebellar",
"ataxia",
"type",
"3",
"gene",
".",
"Machado",
"-",
"Joseph",
"disease",
"(",
"MJD",
")",
"belongs",
"to",
"a",
"group",
"of",
"clinically",
"and",
"genetically",
"heterogeneous",
"neurodegenerative",
"d... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
0,
0,
1,
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,
... |
10732816 | [
"Emerin",
",",
"deficiency",
"of",
"which",
"causes",
"Emery",
"-",
"Dreifuss",
"muscular",
"dystrophy",
",",
"is",
"localized",
"at",
"the",
"inner",
"nuclear",
"membrane",
".",
"X",
"-",
"linked",
"recessive",
"Emery",
"-",
"Dreifuss",
"muscular",
"dystrophy... | [
1,
2,
2,
0,
0,
0,
1,
2,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
2,
2,
2,
2,
2,
0,
1,
0,
0,
0,
57,
58,
58,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
2,
2,
0,
0,
11,
12,
12,
12,
12,
12,
12,
12,
12,
... |
10735274 | [
"Locus",
"heterogeneity",
"in",
"Friedreich",
"ataxia",
".",
"Friedreich",
"ataxia",
"(",
"FRDA",
")",
"is",
"the",
"most",
"common",
"form",
"of",
"autosomal",
"recessive",
"ataxia",
".",
"The",
"disease",
"locus",
"was",
"assigned",
"to",
"chromosome",
"9",
... | [
0,
0,
0,
1,
2,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
57,
58,
58,
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,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,... |
10736265 | [
"Glycerol",
"as",
"a",
"correlate",
"of",
"impaired",
"glucose",
"tolerance",
":",
"dissection",
"of",
"a",
"complex",
"system",
"by",
"use",
"of",
"a",
"simple",
"genetic",
"trait",
".",
"Glycerol",
"kinase",
"(",
"GK",
")",
"represents",
"the",
"primary",
... | [
0,
0,
0,
0,
0,
1,
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,
1,
2,
2,
0,
1,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
2,
0,
0,
0,
0,
0... |
10737119 | [
"Clinical",
"and",
"molecular",
"genetics",
"of",
"primary",
"dystonias",
".",
"Primary",
"dystonias",
"are",
"movement",
"disorders",
"with",
"dystonia",
"as",
"a",
"major",
"symptom",
".",
"They",
"are",
"frequently",
"inherited",
"as",
"Mendelian",
"traits",
... | [
0,
0,
0,
0,
0,
57,
58,
0,
57,
58,
0,
57,
58,
0,
57,
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,
... |
10737864 | [
"A",
"developmental",
"analysis",
"of",
"clonidine",
"'",
"s",
"effects",
"on",
"cardiac",
"rate",
"and",
"ultrasound",
"production",
"in",
"infant",
"rats",
".",
"Under",
"controlled",
"conditions",
",",
"infant",
"rats",
"emit",
"ultrasonic",
"vocalizations",
... | [
0,
0,
0,
0,
61,
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,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10737980 | [
"Determination",
"of",
"30",
"X",
"-",
"linked",
"adrenoleukodystrophy",
"mutations",
",",
"including",
"15",
"not",
"previously",
"described",
".",
"X",
"-",
"linked",
"Adrenoleukodystrophy",
"(",
"X",
"-",
"ALD",
")",
"is",
"the",
"most",
"frequent",
"peroxi... | [
0,
0,
0,
79,
80,
80,
80,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
0,
1,
2,
2,
0,
0,
0,
0,
0,
57,
58,
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,
... |
10737981 | [
"beta",
"-",
"galactosidase",
"gene",
"mutations",
"affecting",
"the",
"lysosomal",
"enzyme",
"and",
"the",
"elastin",
"-",
"binding",
"protein",
"in",
"GM1",
"-",
"gangliosidosis",
"patients",
"with",
"cardiac",
"involvement",
".",
"GM1",
"-",
"gangliosidosis",
... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
80,
0,
0,
1,
2,
0,
1,
2,
2,
0,
0,
57,
58,
58,
0,
0,
1,
2,
2,
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,
... |
10739826 | [
"Recurrent",
"use",
"of",
"newer",
"oral",
"contraceptives",
"and",
"the",
"risk",
"of",
"venous",
"thromboembolism",
".",
"The",
"epidemiological",
"studies",
"that",
"assessed",
"the",
"risk",
"of",
"venous",
"thromboembolism",
"(",
"VTE",
")",
"associated",
"... | [
0,
0,
0,
0,
61,
62,
0,
0,
0,
0,
25,
26,
0,
0,
0,
0,
0,
0,
0,
0,
0,
25,
26,
0,
25,
0,
0,
0,
0,
61,
62,
0,
61,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10742101 | [
"In",
"vivo",
"modulation",
"of",
"Hmgic",
"reduces",
"obesity",
".",
"The",
"HMGI",
"family",
"of",
"proteins",
"consists",
"of",
"three",
"members",
",",
"HMGIC",
",",
"HMGI",
"and",
"HMGI",
"(",
"Y",
")",
",",
"that",
"function",
"as",
"architectural",
... | [
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,
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... |
10743446 | [
"Differential",
"effects",
"of",
"systemically",
"administered",
"ketamine",
"and",
"lidocaine",
"on",
"dynamic",
"and",
"static",
"hyperalgesia",
"induced",
"by",
"intradermal",
"capsaicin",
"in",
"humans",
".",
"We",
"have",
"examined",
"the",
"effect",
"of",
"s... | [
0,
0,
0,
0,
0,
61,
0,
61,
0,
0,
0,
0,
25,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
61,
0,
0,
0,
0,
0,
0,
0,
25,
0,
0,
0,
0,
0,
0,
0,
25,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,... |
10743694 | [
"Treatment",
"of",
"tacrolimus",
"-",
"related",
"adverse",
"effects",
"by",
"conversion",
"to",
"cyclosporine",
"in",
"liver",
"transplant",
"recipients",
".",
"When",
"tacrolimus",
"side",
"effects",
"persist",
"despite",
"dose",
"reduction",
",",
"conversion",
... | [
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
61,
0,
... |
10746568 | [
"Molecular",
"analysis",
"of",
"the",
"genotype",
"-",
"phenotype",
"relationship",
"in",
"factor",
"X",
"deficiency",
".",
"Factor",
"X",
"deficiency",
"is",
"a",
"rare",
"haemorrhagic",
"condition",
",",
"normally",
"inherited",
"as",
"an",
"autosomal",
"reces... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
1,
2,
2,
0,
0,
0,
57,
58,
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,
0,
0,
0,
0,
0,
0,
... |
10747931 | [
"Transgenic",
"mice",
"expressing",
"a",
"truncated",
"form",
"of",
"the",
"high",
"mobility",
"group",
"I",
"-",
"C",
"protein",
"develop",
"adiposity",
"and",
"an",
"abnormally",
"high",
"prevalence",
"of",
"lipomas",
".",
"Chromosomal",
"translocations",
"in"... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
0,
0,
0,
0,
0,
57,
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,
... |
10766245 | [
"ATM",
"phosphorylates",
"p95",
"/",
"nbs1",
"in",
"an",
"S",
"-",
"phase",
"checkpoint",
"pathway",
".",
"The",
"rare",
"diseases",
"ataxia",
"-",
"telangiectasia",
"(",
"AT",
")",
",",
"caused",
"by",
"mutations",
"in",
"the",
"ATM",
"gene",
",",
"and"... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
1,
2,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
57,
58,
0,
0,
57,
58,
0,
0,
0,
0,
... |
10767313 | [
"Understanding",
"the",
"molecular",
"basis",
"of",
"fragile",
"X",
"syndrome",
".",
"Fragile",
"X",
"syndrome",
",",
"a",
"common",
"form",
"of",
"inherited",
"mental",
"retardation",
",",
"is",
"mainly",
"caused",
"by",
"massive",
"expansion",
"of",
"CGG",
... | [
0,
0,
0,
0,
0,
1,
2,
2,
0,
1,
2,
2,
0,
0,
0,
0,
0,
57,
58,
58,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
80,
80,
80,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
... |
10767326 | [
"Haploinsufficiency",
"of",
"the",
"transcription",
"factors",
"FOXC1",
"and",
"FOXC2",
"results",
"in",
"aberrant",
"ocular",
"development",
".",
"Anterior",
"segment",
"developmental",
"disorders",
",",
"including",
"Axenfeld",
"-",
"Rieger",
"anomaly",
"(",
"ARA"... | [
11,
12,
12,
12,
12,
12,
12,
12,
0,
0,
0,
0,
0,
0,
57,
58,
58,
58,
0,
0,
1,
2,
2,
2,
0,
1,
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,
79,
0,
0,
... |
10767339 | [
"(",
"Over",
")",
"correction",
"of",
"FMR1",
"deficiency",
"with",
"YAC",
"transgenics",
":",
"behavioral",
"and",
"physical",
"features",
".",
"Fragile",
"X",
"syndrome",
"is",
"a",
"common",
"cause",
"of",
"mental",
"retardation",
"involving",
"loss",
"of",... | [
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
57,
58,
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,
... |
10767343 | [
"Transgenic",
"mice",
"carrying",
"large",
"human",
"genomic",
"sequences",
"with",
"expanded",
"CTG",
"repeat",
"mimic",
"closely",
"the",
"DM",
"CTG",
"repeat",
"intergenerational",
"and",
"somatic",
"instability",
".",
"Myotonic",
"dystrophy",
"(",
"DM",
")",
... | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
79,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
... |
10767347 | [
"Inactivation",
"of",
"the",
"Friedreich",
"ataxia",
"mouse",
"gene",
"leads",
"to",
"early",
"embryonic",
"lethality",
"without",
"iron",
"accumulation",
".",
"Friedreich",
"ataxia",
"(",
"FRDA",
")",
",",
"the",
"most",
"common",
"autosomal",
"recessive",
"ata... | [
0,
0,
0,
79,
80,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
57,
58,
58,
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... |
10777718 | [
"Gaucher",
"disease",
":",
"the",
"origins",
"of",
"the",
"Ashkenazi",
"Jewish",
"N370S",
"and",
"84GG",
"acid",
"beta",
"-",
"glucosidase",
"mutations",
".",
"Type",
"1",
"Gaucher",
"disease",
"(",
"GD",
")",
",",
"a",
"non",
"-",
"neuronopathic",
"lysoso... | [
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
0,
57,
58,
58,
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,
... |
107868 | [
"HLA",
"B27",
"and",
"the",
"genetics",
"of",
"ankylosing",
"spondylitis",
".",
"One",
"hundred",
"and",
"twenty",
"-",
"eight",
"of",
"145",
"patients",
"with",
"ankylosing",
"spondylitis",
"(",
"AS",
")",
"were",
"found",
"to",
"be",
"HLA",
"B27",
"posit... | [
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... |
10788334 | [
"Founder",
"mutations",
"in",
"the",
"BRCA1",
"gene",
"in",
"Polish",
"families",
"with",
"breast",
"-",
"ovarian",
"cancer",
".",
"We",
"have",
"undertaken",
"a",
"hospital",
"-",
"based",
"study",
",",
"to",
"identify",
"possible",
"BRCA1",
"and",
"BRCA2",... | [
0,
0,
0,
0,
73,
0,
0,
0,
0,
0,
43,
44,
44,
44,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
73,
0,
73,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
43,
0,
0,
0,
0,
0,
0,
0,
0,
0,
43,
44,
44,
44,
0,
... |
10790204 | [
"Molecular",
"basis",
"of",
"very",
"long",
"chain",
"acyl",
"-",
"CoA",
"dehydrogenase",
"deficiency",
"in",
"three",
"Israeli",
"patients",
":",
"identification",
"of",
"a",
"complex",
"mutant",
"allele",
"with",
"P65L",
"and",
"K247Q",
"mutations",
",",
"th... | [
0,
0,
0,
1,
2,
2,
2,
2,
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,
1,
2,
2,
2,
2,
2,
2,
2,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.