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PubMed:10842298 JSONTXT 16 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-164 Sentence denotes Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
T1 0-164 Sentence denotes Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.
TextSentencer_T2 165-362 Sentence denotes A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent.
T2 165-362 Sentence denotes A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent.
TextSentencer_T3 363-431 Sentence denotes Hypotonia, chorioretinal dystrophy, and myopia were also identified.
T3 363-431 Sentence denotes Hypotonia, chorioretinal dystrophy, and myopia were also identified.
TextSentencer_T4 432-504 Sentence denotes The severity of the condition varied among the closely related patients.
T4 432-504 Sentence denotes The severity of the condition varied among the closely related patients.
TextSentencer_T5 505-728 Sentence denotes Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed.
T5 505-728 Sentence denotes Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed.
TextSentencer_T6 729-889 Sentence denotes Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514.
T6 729-889 Sentence denotes Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514.
TextSentencer_T7 890-979 Sentence denotes The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00).
T7 890-979 Sentence denotes The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00).
TextSentencer_T8 980-1113 Sentence denotes Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997:
T8 980-1113 Sentence denotes Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997:
TextSentencer_T9 1114-1142 Sentence denotes Euro J Hum Genet 5:206-213].
T9 1114-1142 Sentence denotes Euro J Hum Genet 5:206-213].
TextSentencer_T10 1143-1294 Sentence denotes This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype.
T10 1143-1294 Sentence denotes This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype.