Birutė Burnytė

Affiliations

Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariskiu street 2, LT-08661, Vilnius, Lithuania.

Publications (12)

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

BMC musculoskeletal disorders

Avec: Evelina Siavrienė , Gunda Petraitytė , Aušra Morkūnienė , Violeta Mikštienė , Tautvydas Rančelis , Algirdas Utkus , Vaidutis Kučinskas , Eglė Preikšaitienė

Case report: Late onset type 3 hemiplegic migraine with permanent neurologic sequelae after attacks.

Frontiers in neurology

Avec: Mantas Jokubaitis , Givi Lengvenis , Eglė Audronytė , Kristina Ryliškienė

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

Acta medica Lituanica

Avec: Ignas Trainavičius , Darius Dasevičius , Robertas Kemežys , Gilvydas Verkauskas

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

Genes

Avec: Aleksandra Ekkert , Aleksandra Šliachtenko , Julija Grigaitė , Algirdas Utkus , Dalius Jatužis

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Hepatology (Baltimore, Md.)

Avec: Dominic Lenz , Lea D Schlieben , Masaru Shimura , Alyssa Bianzano , Dmitrii Smirnov , Robert Kopajtich , Riccardo Berutti , Rüdiger Adam , Denise Aldrian , Ivo Baric , Ulrich Baumann , Neslihan Eksi Bozbulut , Melanie Brugger , Theresa Brunet , Philip Bufler , Pier Luigi Calvo , Ellen Crushell , Buket Dalgıç , Anibh M Das , Antal Dezsőfi , Felix Distelmaier , Alexander Fichtner , Peter Freisinger , Sven F Garbade , Harald Gaspar , Louise Goujon , Nedim Hadzic , Steffen Hartleif , Bianca Hegen , Maja Hempel , Stephan Henning , Andre Hoerning , Roderick Houwen , Joanne Hughes , Raffaele Iorio , Katarzyna Iwanicka-Pronicka , Martin Jankofsky , Norman Junge , Ino Kanavaki , Aydan Kansu , Sonja Kaspar , Simone Kathemann , Deidre Kelly , Ceyda Tuna Kırsaçlıoğlu , Birgit Knoppke , Martina Kohl , Heike Kölbel , Stefan Kölker , Vassiliki Konstantopoulou , Tatiana Krylova , Zarife Kuloğlu , Alice Kuster , Martin W Laass , Elke Lainka , Eberhard Lurz , Hanna Mandel , Katharina Mayerhanser , Johannes A Mayr , Patrick McKiernan , Patricia McLean , Valerie McLin , Karine Mention , Hanna Müller , Laurent Pasquier , Martin Pavlov , Natalia Pechatnikova , Bianca Peters , Danijela Petković Ramadža , Dorota Piekutowska-Abramczuk , Denisa Pilic , Sanjay Rajwal , Nathalie Rock , Agnès Roetig , René Santer , Wilfried Schenk , Natalia Semenova , Christiane Sokollik , Ekkehard Sturm , Robert W Taylor , Eva Tschiedel , Vaidotas Urbonas , Roser Urreizti , Jan Vermehren , Jerry Vockley , Georg-Friedrich Vogel , Matias Wagner , Wendy van der Woerd , Saskia B Wortmann , Ekaterina Zakharova , Georg Friedrich Hoffmann , Thomas Meitinger , Kei Murayama , Christian Staufner , Holger Prokisch

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

Medicina (Kaunas, Lithuania)

Avec: Evelina Siavrienė , Živilė Maldžienė , Violeta Mikštienė , Gunda Petraitytė , Tautvydas Rančelis , Justas Dapkūnas , Eglė Benušienė , Aušra Sasnauskienė , Jurgita Grikinienė , Eglė Griškevičiūtė , Algirdas Utkus , Eglė Preikšaitienė

Case report of a family with hereditary inclusion body myopathy with

Frontiers in neurology

Avec: Greta Asadauskaitė , Ramunė Vilimienė , Vytautas Augustinavičius ,

Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12.

Brain & development

Avec: Greta Asadauskaitė , Aušra Morkūnienė , Algirdas Utkus ,

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Clinical epigenetics

Avec: Deborah J G Mackay , Gabriella Gazdagh , David Monk , Frederic Brioude , Eloise Giabicani , Izabela M Krzyzewska , Jennifer M Kalish , Saskia M Maas , Masayo Kagami , Jasmin Beygo , Tiina Kahre , Jair Tenorio-Castano , Laima Ambrozaitytė , Flavia Cerrato , Justin H Davies , Giovanni Battista Ferrero , Olga Fjodorova , Africa Manero-Azua , Arrate Pereda , Silvia Russo , Pierpaola Tannorella , Karen I Temple , Katrin Õunap , Andrea Riccio , Guiomar Perez de Nanclares , Eamonn R Maher , Pablo Lapunzina , Irène Netchine , Thomas Eggermann , Jet Bliek , Zeynep Tümer

Novel In-Frame Deletion in

Genes

Avec: Julija Grigaitė , Kamilė Šiaurytė , Eglė Audronytė , Eglė Preikšaitienė , Erinija Pranckevičienė , Aleksandra Ekkert , Algirdas Utkus , Dalius Jatužis

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

Molecular genetics & genomic medicine

Avec: Kristina Grigalionienė , Danutė Balkelienė , Laima Ambrozaitytė , Algirdas Utkus

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.

Orphanet journal of rare diseases

Avec: Kristina Grigalionienė , Laima Ambrozaitytė , Algirdas Utkus

Réseau de co-auteurs

Algirdas Utkus 7 collaborations

Eglė Preikšaitienė 3 collaborations

Laima Ambrozaitytė 3 collaborations

Evelina Siavrienė 2 collaborations

Gunda Petraitytė 2 collaborations

Aušra Morkūnienė 2 collaborations

Violeta Mikštienė 2 collaborations

Tautvydas Rančelis 2 collaborations

Eglė Audronytė 2 collaborations

Aleksandra Ekkert 2 collaborations

Julija Grigaitė 2 collaborations

Dalius Jatužis 2 collaborations

Greta Asadauskaitė 2 collaborations

Kristina Grigalionienė 2 collaborations

Vaidutis Kučinskas 1 collaboration

Mantas Jokubaitis 1 collaboration

Givi Lengvenis 1 collaboration

Kristina Ryliškienė 1 collaboration

Ignas Trainavičius 1 collaboration

Darius Dasevičius 1 collaboration

Robertas Kemežys 1 collaboration

Gilvydas Verkauskas 1 collaboration

Aleksandra Šliachtenko 1 collaboration

Dominic Lenz 1 collaboration

Lea D Schlieben 1 collaboration

Masaru Shimura 1 collaboration

Alyssa Bianzano 1 collaboration

Dmitrii Smirnov 1 collaboration

Robert Kopajtich 1 collaboration

Riccardo Berutti 1 collaboration

Rüdiger Adam 1 collaboration

Denise Aldrian 1 collaboration

Ivo Baric 1 collaboration

Ulrich Baumann 1 collaboration

Neslihan Eksi Bozbulut 1 collaboration

Melanie Brugger 1 collaboration

Theresa Brunet 1 collaboration

Philip Bufler 1 collaboration

Pier Luigi Calvo 1 collaboration

Ellen Crushell 1 collaboration

Buket Dalgıç 1 collaboration

Anibh M Das 1 collaboration

Antal Dezsőfi 1 collaboration

Felix Distelmaier 1 collaboration

Alexander Fichtner 1 collaboration

Peter Freisinger 1 collaboration

Sven F Garbade 1 collaboration

Harald Gaspar 1 collaboration

Louise Goujon 1 collaboration

Nedim Hadzic 1 collaboration

Steffen Hartleif 1 collaboration

Bianca Hegen 1 collaboration

Maja Hempel 1 collaboration

Stephan Henning 1 collaboration

Andre Hoerning 1 collaboration

Roderick Houwen 1 collaboration

Joanne Hughes 1 collaboration

Raffaele Iorio 1 collaboration

Katarzyna Iwanicka-Pronicka 1 collaboration

Martin Jankofsky 1 collaboration

Norman Junge 1 collaboration

Ino Kanavaki 1 collaboration

Aydan Kansu 1 collaboration

Sonja Kaspar 1 collaboration

Simone Kathemann 1 collaboration

Deidre Kelly 1 collaboration

Ceyda Tuna Kırsaçlıoğlu 1 collaboration

Birgit Knoppke 1 collaboration

Martina Kohl 1 collaboration

Heike Kölbel 1 collaboration

Stefan Kölker 1 collaboration

Vassiliki Konstantopoulou 1 collaboration

Tatiana Krylova 1 collaboration

Zarife Kuloğlu 1 collaboration

Alice Kuster 1 collaboration

Martin W Laass 1 collaboration

Elke Lainka 1 collaboration

Eberhard Lurz 1 collaboration

Hanna Mandel 1 collaboration

Katharina Mayerhanser 1 collaboration

Johannes A Mayr 1 collaboration

Patrick McKiernan 1 collaboration

Patricia McLean 1 collaboration

Valerie McLin 1 collaboration

Karine Mention 1 collaboration

Hanna Müller 1 collaboration

Laurent Pasquier 1 collaboration

Martin Pavlov 1 collaboration

Natalia Pechatnikova 1 collaboration

Bianca Peters 1 collaboration

Danijela Petković Ramadža 1 collaboration

Dorota Piekutowska-Abramczuk 1 collaboration

Denisa Pilic 1 collaboration

Sanjay Rajwal 1 collaboration

Nathalie Rock 1 collaboration

Agnès Roetig 1 collaboration

René Santer 1 collaboration

Wilfried Schenk 1 collaboration

Natalia Semenova 1 collaboration

Christiane Sokollik 1 collaboration

Ekkehard Sturm 1 collaboration

Robert W Taylor 1 collaboration

Eva Tschiedel 1 collaboration

Vaidotas Urbonas 1 collaboration

Roser Urreizti 1 collaboration

Jan Vermehren 1 collaboration

Jerry Vockley 1 collaboration

Georg-Friedrich Vogel 1 collaboration

Matias Wagner 1 collaboration

Wendy van der Woerd 1 collaboration

Saskia B Wortmann 1 collaboration

Ekaterina Zakharova 1 collaboration

Georg Friedrich Hoffmann 1 collaboration

Thomas Meitinger 1 collaboration

Kei Murayama 1 collaboration

Christian Staufner 1 collaboration

Holger Prokisch 1 collaboration

Živilė Maldžienė 1 collaboration

Justas Dapkūnas 1 collaboration

Eglė Benušienė 1 collaboration

Aušra Sasnauskienė 1 collaboration

Jurgita Grikinienė 1 collaboration

Eglė Griškevičiūtė 1 collaboration

Ramunė Vilimienė 1 collaboration

Vytautas Augustinavičius 1 collaboration

Deborah J G Mackay 1 collaboration

Gabriella Gazdagh 1 collaboration

David Monk 1 collaboration

Frederic Brioude 1 collaboration

Eloise Giabicani 1 collaboration

Izabela M Krzyzewska 1 collaboration

Jennifer M Kalish 1 collaboration

Saskia M Maas 1 collaboration

Masayo Kagami 1 collaboration

Jasmin Beygo 1 collaboration

Tiina Kahre 1 collaboration

Jair Tenorio-Castano 1 collaboration

Flavia Cerrato 1 collaboration

Justin H Davies 1 collaboration

Giovanni Battista Ferrero 1 collaboration

Olga Fjodorova 1 collaboration

Africa Manero-Azua 1 collaboration

Arrate Pereda 1 collaboration

Silvia Russo 1 collaboration

Pierpaola Tannorella 1 collaboration

Karen I Temple 1 collaboration

Katrin Õunap 1 collaboration

Andrea Riccio 1 collaboration

Guiomar Perez de Nanclares 1 collaboration

Eamonn R Maher 1 collaboration

Pablo Lapunzina 1 collaboration

Irène Netchine 1 collaboration

Thomas Eggermann 1 collaboration

Jet Bliek 1 collaboration

Zeynep Tümer 1 collaboration

Kamilė Šiaurytė 1 collaboration

Erinija Pranckevičienė 1 collaboration

Danutė Balkelienė 1 collaboration