2009
The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15
Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. American Journal Of Medical Genetics Part A 2009, 149A: 2569-2572. PMID: 19876906, DOI: 10.1002/ajmg.a.33063.Peer-Reviewed Original ResearchAbnormalities, MultipleArachnoid CystsBlood Specimen CollectionChromosome MappingChromosomes, Human, Pair 11DNADNA Copy Number VariationsFamilyFemaleGenome, HumanGenome-Wide Association StudyGenotypeHomozygoteHumansIntellectual DisabilityLissencephalyLod ScoreMalePedigreePhenotypePolymorphism, Single NucleotideSyndrome
2007
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts
Guzel A, Tatli M, Bilguvar K, DiLuna ML, Bakkaloglu B, Ozturk AK, Bayrakli F, Gunel M. Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. American Journal Of Medical Genetics Part A 2007, 143A: 672-677. PMID: 17343267, DOI: 10.1002/ajmg.a.31640.Peer-Reviewed Original ResearchMeSH KeywordsArachnoid CystsEpilepsyFemaleHumansIntellectual DisabilityMalePedigreeSyndromeTelencephalonConceptsArachnoid cystCerebral anomaliesMental retardationAutosomal recessive inheritanceSeizure disorderNovel genetic syndromeCentrum semiovaleLack of mutationsPerivascular spacesWhite matterNew syndromeGenetic syndromesLissencephaly geneSyndromeCystsRecessive inheritancePachygyriaSeizuresConsanguineous familyRetardationNew phenotypesPatients