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PubMed:17033686 JSONTXT 33 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-115 Sentence denotes A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
T1 0-115 Sentence denotes A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
TextSentencer_T2 116-387 Sentence denotes X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR.
T2 116-387 Sentence denotes X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR.
TextSentencer_T3 388-580 Sentence denotes Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia.
T3 388-580 Sentence denotes Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia.
TextSentencer_T4 581-755 Sentence denotes By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene.
T4 581-755 Sentence denotes By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene.
TextSentencer_T5 756-937 Sentence denotes A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins.
T5 756-937 Sentence denotes A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins.
TextSentencer_T6 938-1003 Sentence denotes However, no mutation in the BCOR gene was found in both patients.
T6 938-1003 Sentence denotes However, no mutation in the BCOR gene was found in both patients.
TextSentencer_T7 1004-1179 Sentence denotes Subsequent mutation analysis of PQBP1, located within the delineated linkage interval in Xp11.23, revealed a 2-bp deletion, c.461_462delAG, that cosegregated with the disease.
T7 1004-1179 Sentence denotes Subsequent mutation analysis of PQBP1, located within the delineated linkage interval in Xp11.23, revealed a 2-bp deletion, c.461_462delAG, that cosegregated with the disease.
TextSentencer_T8 1180-1290 Sentence denotes Notably, the same mutation is associated with the Hamel cerebropalatocardiac syndrome, another form of S-XLMR.
T8 1180-1290 Sentence denotes Notably, the same mutation is associated with the Hamel cerebropalatocardiac syndrome, another form of S-XLMR.
TextSentencer_T9 1291-1418 Sentence denotes Haplotype analysis suggests a germline mosaicism of the 2-bp deletion in the maternal grandmother of both affected individuals.
T9 1291-1418 Sentence denotes Haplotype analysis suggests a germline mosaicism of the 2-bp deletion in the maternal grandmother of both affected individuals.
TextSentencer_T10 1419-1659 Sentence denotes In summary, our findings demonstrate for the first time that mutations in PQBP1 are associated with an S-XLMR phenotype including microphthalmia, thereby further extending the clinical spectrum of phenotypes associated with PQBP1 mutations.
T10 1419-1659 Sentence denotes In summary, our findings demonstrate for the first time that mutations in PQBP1 are associated with an S-XLMR phenotype including microphthalmia, thereby further extending the clinical spectrum of phenotypes associated with PQBP1 mutations.