2020
A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.
Meriç R, Ercan-Sencicek AG, Uludağ Alkaya D, Şahin Y, Sar M, Bilguvar K, Tüysüz B. A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant. Clinical Dysmorphology 2020, 30: 54-57. PMID: 32969855, DOI: 10.1097/mcd.0000000000000350.Peer-Reviewed Case Reports and Technical Notes
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
A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan A. A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity? Genetic Counseling 2013, 24: 283-9. PMID: 24341143.Peer-Reviewed Original ResearchConceptsAndermann syndromeCorpus callosumCortical electrical activityAutosomal recessive disorderPeripheral neuropathyProgressive neuropathySevere neuropathyYear old Turkish boyNew patientsPsychiatric symptomsExtracellular ion concentrationsClinical attentionConsanguineous parentsImaging studiesNeuropathySyndromeThird decadeRecessive disorderElectrical activityMental retardationDysmorphic characteristicsAreflexiaTurkish boyAgenesisCallosum