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PubMed:24911043 JSONTXT 10 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-110 Sentence denotes Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.
T1 0-110 Sentence denotes Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.
TextSentencer_T2 111-119 Sentence denotes PURPOSE:
T2 111-119 Sentence denotes PURPOSE:
TextSentencer_T3 120-379 Sentence denotes To report the results of molecular karyotyping for a dysmorphic girl with CYP1B1-negative primary congenital glaucoma from Saudi Arabia, where CYPB1 mutations account for over 90% of cases of primary congenital glaucoma and the remaining cases are idiopathic.
T3 120-379 Sentence denotes To report the results of molecular karyotyping for a dysmorphic girl with CYP1B1-negative primary congenital glaucoma from Saudi Arabia, where CYPB1 mutations account for over 90% of cases of primary congenital glaucoma and the remaining cases are idiopathic.
TextSentencer_T4 380-637 Sentence denotes METHODS: CYP1B1 sequencing in the affected child; high-resolution array comparative genomic hybridization (array CGH) of the affected child and both unaffected parents (Affymetrix Cytogenetics Whole-Genome 2.7M array; Affymetrix Inc., Santa Clara, CA, USA).
T4 380-637 Sentence denotes METHODS: CYP1B1 sequencing in the affected child; high-resolution array comparative genomic hybridization (array CGH) of the affected child and both unaffected parents (Affymetrix Cytogenetics Whole-Genome 2.7M array; Affymetrix Inc., Santa Clara, CA, USA).
TextSentencer_T5 638-646 Sentence denotes RESULTS:
T5 638-646 Sentence denotes RESULTS:
TextSentencer_T6 647-708 Sentence denotes The girl did not harbor CYP1B1 mutation by Sanger sequencing.
T6 647-708 Sentence denotes The girl did not harbor CYP1B1 mutation by Sanger sequencing.
TextSentencer_T7 709-921 Sentence denotes Array CGH revealed 2 de novo 7p heterozygous duplications (7p21 - 7p14, encompassing 223 genes, and 7p14-7p11.2, encompassing 225 genes) and a 4p homozygous microdeletion (4p14) encompassing one gene only, DTHD1.
T7 709-921 Sentence denotes Array CGH revealed 2 de novo 7p heterozygous duplications (7p21 - 7p14, encompassing 223 genes, and 7p14-7p11.2, encompassing 225 genes) and a 4p homozygous microdeletion (4p14) encompassing one gene only, DTHD1.
TextSentencer_T8 922-934 Sentence denotes CONCLUSIONS:
T8 922-934 Sentence denotes CONCLUSIONS:
TextSentencer_T9 935-1124 Sentence denotes The fact that this dysmorphic girl is Saudi Arabian and has CYP1B1-negative primary congenital glaucoma suggests that her glaucoma phenotype is related to her de novo copy number variation.
T9 935-1124 Sentence denotes The fact that this dysmorphic girl is Saudi Arabian and has CYP1B1-negative primary congenital glaucoma suggests that her glaucoma phenotype is related to her de novo copy number variation.
TextSentencer_T10 1125-1307 Sentence denotes Loss or gain of one or more of the genes encompassed in the identified chromosomal areas may be associated with primary congenital glaucoma and/or other observed phenotypic features.
T10 1125-1307 Sentence denotes Loss or gain of one or more of the genes encompassed in the identified chromosomal areas may be associated with primary congenital glaucoma and/or other observed phenotypic features.