2015
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy
Per H, Canpolat M, Bayram A, Ulgen E, Baran B, Kardas F, Gumus H, Kumandas S, Bilguvar K, Çağlayan A. Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. Neuropediatrics 2015, 46: 420-423. PMID: 26479764, DOI: 10.1055/s-0035-1565275.Peer-Reviewed Original ResearchConceptsPeripheral neuropathyTangier diseaseLipid electrophoresisHigh-density lipoprotein levelsPlasma high-density lipoprotein levelsCassette transporter 1 (ABCA1) geneWhole-exome sequencingLike neuropathyPediatric patientsFemale patientsHDL cholesterolLipoprotein levelsSystemic findingsHDL levelsDifferential diagnosisAsymptomatic sisterNeuropathyPatientsTransporter 1 geneDiagnostic testsExome sequencingAdolescent girlsDiagnosisGenetic featuresGenetic diagnosis
2013
Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype
Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M. Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype. American Journal Of Medical Genetics Part A 2013, 161: 1300-1308. PMID: 23633440, DOI: 10.1002/ajmg.a.35906.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAdolescentAdultCalcification, PhysiologicCodon, NonsenseConsanguinityDehydroepiandrosteroneDehydroepiandrosterone SulfateDwarfismFemaleGenotypeGrowth DisordersHomozygoteHumansMaleMultienzyme ComplexesMusculoskeletal AbnormalitiesOsteochondrodysplasiasPedigreePhenotypeRadiographySequence Analysis, DNASulfate AdenylyltransferaseTurkeyConceptsDHEA sulfate levelsShort femoral neckShort halluxFemale patientsInsulin resistanceFemoral neckPlasma levelsIliac boneTestosterone levelsTurkish patientsCoxa varaPatientsVertebral bodyMetaphyseal abnormalitiesShort statureSkeletal dysplasiaEpiphyseal ossificationHyperandrogenismDysplasiaDehydroepiandrosteroneSulfate levelsTurkish familyNonsense mutationPAPSS2Androstenedione