Familial Distal Monosomy 5p15.3-pter With Trisomy 12q24.2-qter Resulting in Neurodevelopmental Delay and Dysmorphic Features von Čiuladaitė, Živilė, Matulevičienė, Aušra, Bandanskytė, Aušra, Brazaitis, Andrius, Kasnauskienė, Jūratė, Kučinskas, Vaidutis

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Clinical, cytogenetic and molecular study of a case of ring chromosome 10 von Čiuladaitė, Živilė, Burnytė, Birutė, Vansevičiūtė, Danutė, Dagytė, Evelina, Kučinskas, Vaidutis, Utkus, Algirdas

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Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity von Čiuladaitė, Živilė, Kasnauskienė, Jūratė, Cimbalistienė, Loreta, Preikšaitienė, Eglė, Patsalis, Philippos C., Kučinskas, Vaidutis

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Subtelomeric fluorescence in situ hybridization in clinical cytogenetics: results of analysis of Lithuanian patients von DIRSĖ, Vaidas, ŠLIUŽAS, Vytautas, ČIULADAITĖ, Živilė, ALEKSIŪNIENĖ, Beata, KUČINSKAS, Vaidutis

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Diversity of human chromosome structural rearrangements identified at the Center for Medical Genetics in 2002-2007 von Šliužas, Vytautas, Čiuladaitė, Živilė, Kučinskas, Vaidutis

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Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement von Preiksaitiene, Egle, Benušienė, Eglė, Ciuladaite, Zivile, Šliužas, Vytautas, Mikštienė, Violeta, Kučinskas, Vaidutis

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Clinical and molecular characterization of a second case of 7p22.1 microduplication von Preiksaitiene, Egle, Kasnauskiene, Jurate, Ciuladaite, Zivile, Tumiene, Birute, Patsalis, Philippos C., Kučinskas, Vaidutis

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Relatives with Opposite Chromosome Constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a Familial Pericentric Inversion von Ciuladaite, Zivile, Preiksaitiene, Egle, Utkus, Algirdas, Kučinskas, Vaidutis

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A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability von Kasnauskiene, Jurate, Ciuladaite, Zivile, Preiksaitiene, Egle, Utkus, Algirdas, Peciulyte, Agnė, Kučinskas, Vaidutis

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Clinical, cytogenetic and molecular study of a case of ring chromosome 10 von Čiuladaitė, Živilė, Burnytė, Birutė, Vansevičiūtė, Danutė, Dagytė, Evelina, Kučinskas, Vaidutis, Utkus, Algirdas

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Considering specific clinical features as evidence of pathogenic copy number variants von Preiksaitiene, Egle, Molytė, Alma, Kasnauskiene, Jurate, Ciuladaite, Zivile, Utkus, Algirdas, Patsalis, Philippos C, Kučinskas, Vaidutis

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A single gene deletion on 4q28.3: PCDH18 – A new candidate gene for intellectual disability? von Kasnauskiene, Jurate, Ciuladaite, Zivile, Preiksaitiene, Egle, Matulevičienė, Aušra, Alexandrou, Angelos, Koumbaris, George, Sismani, Carolina, Pepalytė, Ingrida, Patsalis, Philippos C, Kučinskas, Vaidutis

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De novo 5q35.5 duplication with clinical presentation of Sotos syndrome von Kasnauskiene, Jurate, Cimbalistiene, Loreta, Ciuladaite, Zivile, Preiksaitiene, Egle, Kučinskienė, Zita Aušrelė, Hettinger, Joe A., Sismani, Carolina, Patsalis, Philippos C., Kučinskas, Vaidutis

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Clinical and molecular characterization of a second case of 7p22.1 microduplication von Preiksaitiene, Egle, Kasnauskiene, Jurate, Ciuladaite, Zivile, Tumiene, Birute, Patsalis, Philippos C., Kučinskas, Vaidutis

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De novo 5q35.5 duplication with clinical presentation of Sotos syndrome von Kasnauskiene, Jurate, Cimbalistiene, Loreta, Ciuladaite, Zivile, Preiksaitiene, Egle, Kučinskienė, Zita Aušrelė, Hettinger, Joe A., Sismani, Carolina, Patsalis, Philippos C., Kučinskas, Vaidutis

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