Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome

por Kemezyte, Aurelija, Gegieckiene, Ruta, Burnyte, Birute
Publicado 2023

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease

por Grigalionienė, Kristina, Burnytė, Birutė, Ambrozaitytė, Laima, Utkus, Algirdas
Publicado 2023

Cerebellar Ataxia and Peripheral Neuropathy in a Family With PNPLA8-Associated Disease

por Burnyte, Birute, Vilimiene, Ramune, Grigalioniene, Kristina, Adomaitiene, Irina, Utkus, Algirdas
Publicado 2023

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

por Ruzgienė, Dovilė, Sutkevičiūtė, Meda, Burnytė, Birutė, Grigalionienė, Kristina, Jankauskienė, Augustina
Publicado 2021

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature

por Trainavičius, Ignas, Dasevičius, Darius, Burnytė, Birutė, Kemežys, Robertas, Verkauskas, Gilvydas
Publicado 2022

Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion

por Grigalionienė, Kristina, Burnytė, Birutė, Balkelienė, Danutė, Ambrozaitytė, Laima, Utkus, Algirdas
Publicado 2022

Clinical, cytogenetic and molecular study of a case of ring chromosome 10

por Čiuladaitė, Živilė, Burnytė, Birutė, Vansevičiūtė, Danutė, Dagytė, Evelina, Kučinskas, Vaidutis, Utkus, Algirdas
Publicado 2015

Urine Biomarkers Combined With Ultrasound for the Diagnosis of Obstruction in Pediatric Hydronephrosis

por Kazlauskas, Vytis, Bilius, Vytautas, Jakutis, Virginijus, Komiagiene, Renata, Burnyte, Birute, Verkauskas, Gilvydas
Publicado 2022

Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?

por Ekkert, Aleksandra, Šliachtenko, Aleksandra, Grigaitė, Julija, Burnytė, Birutė, Utkus, Algirdas, Jatužis, Dalius
Publicado 2021

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra

por Peciuliene, Skaiste, Burnyte, Birute, Gudaitiene, Rymanta, Rusoniene, Skirmante, Drazdiene, Nijole, Liubsys, Arunas, Utkus, Algirdas
Publicado 2016

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report

por Siavrienė, Evelina, Petraitytė, Gunda, Burnytė, Birutė, Morkūnienė, Aušra, Mikštienė, Violeta, Rančelis, Tautvydas, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė
Publicado 2021

Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study

por Grigaitė, Julija, Šiaurytė, Kamilė, Audronytė, Eglė, Preikšaitienė, Eglė, Burnytė, Birutė, Pranckevičienė, Erinija, Ekkert, Aleksandra, Utkus, Algirdas, Jatužis, Dalius
Publicado 2021

Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report

por Aleksiūnienė, Beata, Matulevičiūtė, Rugilė, Matulevičienė, Aušra, Burnytė, Birutė, Krasovskaja, Natalija, Ambrozaitytė, Laima, Mikštienė, Violeta, Dirsė, Vaidas, Utkus, Algirdas, Kučinskas, Vaidutis
Publicado 2017

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation

por Siavrienė, Evelina, Maldžienė, Živilė, Mikštienė, Violeta, Petraitytė, Gunda, Rančelis, Tautvydas, Dapkūnas, Justas, Burnytė, Birutė, Benušienė, Eglė, Sasnauskienė, Aušra, Grikinienė, Jurgita, Griškevičiūtė, Eglė, Utkus, Algirdas, Preikšaitienė, Eglė
Publicado 2022

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

por Inashkina, Inna, Jankevics, Eriks, Stavusis, Janis, Vasiljeva, Inta, Viksne, Kristine, Micule, Ieva, Strautmanis, Jurgis, Naudina, Maruta S., Cimbalistiene, Loreta, Kucinskas, Vaidutis, Krumina, Astrida, Utkus, Algirdas, Burnyte, Birute, Matuleviciene, Ausra, Lace, Baiba
Publicado 2016

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome

por Cerkauskaite, Agne, Savige, Judy, Janonyte, Karolina, Jeremiciute, Ieva, Miglinas, Marius, Kazenaite, Edita, Laurinavicius, Arvydas, Strupaite-Sileikiene, Rasa, Vainutiene, Vija, Burnyte, Birute, Jankauskiene, Augustina, Rolfs, Arndt, Bauer, Peter, Schröder, Sabine, Cerkauskiene, Rimante
Publicado 2022

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

por Mikstiene, Violeta, Jakaitiene, Audrone, Byckova, Jekaterina, Gradauskiene, Egle, Preiksaitiene, Egle, Burnyte, Birute, Tumiene, Birute, Matuleviciene, Ausra, Ambrozaityte, Laima, Uktveryte, Ingrida, Domarkiene, Ingrida, Rancelis, Tautvydas, Cimbalistiene, Loreta, Lesinskas, Eugenijus, Kucinskas, Vaidutis, Utkus, Algirdas
Publicado 2016

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

por Meyer, Robert, Begemann, Matthias, Hübner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Elgizouli, Magdeldin, Schara, Ulrike, Ambrozaityte, Laima, Burnyte, Birute, Schröder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Fekete, Gyorgy, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas
Publicado 2021

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling

por Malcorps, Matilde, Amor-Barris, Silvia, Burnyte, Birute, Vilimiene, Ramune, Armirola-Ricaurte, Camila, Grigalioniene, Kristina, Ekshteyn, Alexandra, Morkuniene, Ausra, Vaitkevicius, Arunas, De Vriendt, Els, Baets, Jonathan, Scherer, Steven S., Ambrozaityte, Laima, Utkus, Algirdas, Jordanova, Albena, Peeters, Kristien
Publicado 2022

A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation

por Tesi, Bianca, Rascon, Jelena, Chiang, Samuel C.C., Burnyte, Birute, Löfstedt, Alexandra, Fasth, Anders, Heizmann, Miriam, Juozapaite, Sandra, Kiudeliene, Rosita, Kvedaraite, Egle, Miseviciene, Valdone, Muleviciene, Audrone, Müller, Martha-Lena, Nordenskjöld, Magnus, Matuzeviciene, Reda, Samaitiene, Ruta, Speckmann, Carsten, Stankeviciene, Sigita, Zekas, Vytautas, Voss, Matthias, Ehl, Stephan, Vaiciene-Magistris, Nerija, Henter, Jan-Inge, Meeths, Marie, Bryceson, Yenan T.
Publicado 2018