Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31
dc.contributor.author | Bayri, Yasar | |
dc.contributor.author | Soylemez, Burcak | |
dc.contributor.author | Seker, Askin | |
dc.contributor.author | Yuksel, Sirin | |
dc.contributor.author | Tanrikulu, Bahattin | |
dc.contributor.author | Unver, Olcay | |
dc.contributor.author | Canbolat, Cagri | |
dc.contributor.author | Sakar, Mustafa | |
dc.contributor.author | Kardag, Ozen | |
dc.contributor.author | Yakicier, Cengiz | |
dc.contributor.author | Dagcinar, Adnan | |
dc.contributor.author | Ziyal, Ibrahim | |
dc.contributor.author | Bayrakli, Fatih | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T09:48:12Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T09:48:12Z | |
dc.date.issued | 2015 | |
dc.identifier.issn | 0256-7040 | |
dc.identifier.issn | 1433-0350 | |
dc.identifier.uri | https://dx.doi.org/10.1007/s00381-015-2753-z | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/7776 | |
dc.description | WOS: 000358382400025 | en_US |
dc.description | PubMed ID: 26005079 | en_US |
dc.description.abstract | Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect. We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring. A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus. Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | SPRINGER | en_US |
dc.relation.isversionof | 10.1007/s00381-015-2753-z | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Meningomyelocele | en_US |
dc.subject | Neural tube defects | en_US |
dc.subject | Whole genome linkage analysis | en_US |
dc.subject | Chromosome | en_US |
dc.subject | LOD score | en_US |
dc.title | Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31 | en_US |
dc.type | article | en_US |
dc.relation.journal | CHILDS NERVOUS SYSTEM | en_US |
dc.contributor.department | [Bayri, Yasar -- Seker, Askin -- Sakar, Mustafa -- Dagcinar, Adnan -- Ziyal, Ibrahim -- Bayrakli, Fatih] Marmara Univ, Sch Med, Dept Neurosurg, Istanbul, Turkey -- [Bayri, Yasar -- Seker, Askin -- Sakar, Mustafa -- Dagcinar, Adnan -- Ziyal, Ibrahim -- Bayrakli, Fatih] Marmara Univ, Inst Neurol Sci, Istanbul, Turkey -- [Soylemez, Burcak -- Canbolat, Cagri -- Kardag, Ozen] Cumhuriyet Univ, Dept Neurosurg, Sch Med, Sivas, Turkey -- [Yuksel, Sirin] Acibadem Univ, Dept Med Biol, Sch Med, Istanbul, Turkey -- [Tanrikulu, Bahattin -- Yakicier, Cengiz] Marmara Univ, Neurosurg Clin, Pendik Educ & Res Hosp, Istanbul, Turkey -- [Unver, Olcay] Marmara Univ, Dept Child Neurol, Sch Med, Istanbul, Turkey | en_US |
dc.contributor.authorID | Tanrikulu, Bahattin -- 0000-0002-9096-8685; Bayri, Yasar -- 0000-0003-1707-6055 | en_US |
dc.identifier.volume | 31 | en_US |
dc.identifier.issue | 8 | en_US |
dc.identifier.endpage | 1370 | en_US |
dc.identifier.startpage | 1367 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
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