|
|
|
|
|
| Kuzmanić Šamija,R.; Primorac,D.; Rešić,B.; Pavlov,V.; Čapkun,V.; Punda,H.; Lozić,B.; Zemunik,T.. |
| The aim of this study was to analyze the association of different clinical contributors of hypoxic-ischemic encephalopathy with NOS3 gene polymorphisms. A total of 110 children with hypoxic-ischemic encephalopathy and 128 control children were selected for this study. Association of gender, gestational age, birth weight, Apgar score, cranial ultrasonography, and magnetic resonance imaging findings with genotypic data of six haplotype-tagging single nucleotide polymorphisms and the most commonly investigated rs1800779 and rs2070744 polymorphisms was analyzed. The TGT haplotype of rs1800783, rs1800779, and rs2070744 polymorphisms was associated with hypoxic-ischemic encephalopathy. Children with the TGT haplotype were infants below 32 weeks of gestation and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Clinical contributors; Hypoxic-ischemic encephalopathy; NOS3 gene polymorphisms. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001000869 |
| |
|
|
| Lozić,B.; Ljubković,J.; Pandurić,D. Gabrić; Saltvig,I.; Kutsche,K.; Krželj,V.; Zemunik,T.. |
| Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: OFCD syndrome; BCOR gene; Talon cusp; Intrafamilial phenotypic variability. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030 |
| |
|
|
|
