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
2011
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Research 2011, 21: 1995-2003. PMID: 21885617, PMCID: PMC3227090, DOI: 10.1101/gr.126110.111.Peer-Reviewed Original ResearchConceptsBeta-propeller domainPrivate missense mutationsLarge consanguineous familyThird geneBEACH domainTransmembrane proteinHomozygous regionsHomozygosity mappingGenomic sequencingWDR81Chromosome 17p13.1Missense mutationsQuadrupedal locomotionConsanguineous familyTargeted sequencingGenesSequencingRare phenotypeMorphological abnormalitiesBiological basisMutationsAffected individualsCell layerParticular atrophyFamily