VU Medicinos fakulteto autoriaus 'Deimantė Braždžiūnaitė' publikacijų sąrašas

2023
1 Kalinauskienė, Rūta; Braždžiūnaitė, Deimantė; Burokienė, Neringa; Dirsė, Vaidas; Morkūnienė, Aušra; Utkus, Algirdas; Preikšaitienė, Eglė. A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects // Medicina. Basel : MDPI. ISSN 1010-660X. eISSN 1648-9144. 2023, vol. 59, iss. 6, art. no. 1156, p. [1-8]. DOI: 10.3390/ medicina59061156. [DB: Science Citation Index Expanded (Web of Science), Scopus] [IF: 2.400; AIF: 3.300; Q1 (2023 InCities JCR SCIE)]
2 Burnytė, Birutė; Senkevičiūtė, Greta; Morkūnienė, Aušra; Braždžiūnaitė, Deimantė; Utkus, Algirdas. Clinical and genetic characterisation of Lithuanian patients with muscle laminopathies // Journal of neuromuscular diseases: 4th International Meeting on Laminopathies, Madrid, 9-12 May, 2023. Amsterdam : IOS Press. ISSN 2214-3599. eISSN 2214-3602. 2023, vol. 10, no. S2, p. S9. DOI: 10.3233/JND-239001. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.200; AIF: 3.700; Q2 (2023 InCities JCR SCIE)]
3 Braždžiūnaitė, Deimantė; Rudminienė, Ilona; Gudynaitė, Miglė; Strupaitė, Rasa; Mazur, Gabija; Miglinas, Marius; Utkus, Algirdas. Clinical and genetic features in two patients carrying PAX2 variants // European journal of human genetics: Abstracts from the 55th European Society of Human Genetics (ESHG) conference: hybrid posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2023, vol. 31, suppl. 1, art. no. P04.006.A, p. 376. DOI: 10.1038/s41431-023-01338-4. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.700; AIF: 4.350; Q2 (2023 InCities JCR SCIE)]

2022
1 Zabulienė, Lina; Miglinas, Marius; Braždžiūnaitė, Deimantė; Smirnova, Mariia; Songailienė, Jurgita; Bratčikovienė, Nomeda; Banys, Valdas; Mačionienė, Ernesta; Utkus, Algirdas. Neonatal thyroid stimulating hormone as indicator of Iodine status in Lithuania // Endocrine abstracts: 24th European Congress of Endocrinology, 21 - 24 May 2022, Milan, Italy. Bristol : Bioscientifica. ISSN 1470-3947. eISSN 1479-6848. 2022, vol. 81, abstract no. P649, p. [1]. DOI: 10.1530/endoabs.81.P649. [DB: MEDLINE]
2 Žakauskienė, Urtė; Mačionienė, Ernesta; Zabulienė, Lina; Sukackienė, Diana; Linkevičiūtė-Dumčė, Aušra; Banys, Valdas; Bratčikovienė, Nomeda; Karosiene, Dovile; Šlekienė, Virginija; Kontrimas, Virginijus; Simanauskas, Kazys; Utkus, Algirdas; Braždžiūnaitė, Deimantė; Miglinė, Vilma; Makarskiene, Indre; Zurlytė, Ingrida; Rakovac, Ivo; Breda, Joao; Cappuccio, Francesco P.; Miglinas, Marius. Sodium, potassium and iodine intake in an adult population of Lithuania // Nutrents. Basel : MDPI. eISSN 2072-6643. 2022, vol. 14, no. 18, art. no. 3817, p. [1-14]. DOI: 10.3390/nu14183817. [DB: Science Citation Index Expanded (Web of Science), Scopus, MEDLINE]
3 Braždžiūnaitė, Deimantė; Miglinas, Marius; Utkus, Algirdas. Next generation sequencing in the diagnostic approach to autosomal dominant polycystic kidney disease // European journal of human genetics: Abstracts from the 54th European Society of Human Genetics (ESHG) conference, August 28-31, 2021: e-Posters. London : Springer Nature. ISSN 1018-4813. eISSN 1476-5438. 2022, vol. 30, suppl. 1, p. 150-151. DOI: 10.1038/s41431-021-01026-1. [DB: Science Citation Index Expanded (Web of Science)] [IF: 5.200; AIF: 5.050; Q1 (2022 InCities JCR SCIE)]

2021
1 Braždžiūnaitė, Deimantė; Miglinas, Marius; Utkus, Algirdas. Next generation sequencing in the diagnostic approach to autosomal dominant polycystic kidney disease // ESHG 2021: virtual conference, August 28-31 : European Society of Human Genetics. 2021, p. [1]. Prieiga per internetą: <https://www.abstractsonline.com/pp8/#!/10372/presentation/488>.

2019
1 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Cimbalistienė, Loreta; Tumienė, Birutė; Preikšaitienė, Eglė; Bikauskaitė-Valčiukė, Liucija; Maldžienė, Živilė; Dagytė, Evelina; Aleksiūnienė, Beata; Matulevičienė, Aušra; Utkus, Algirdas. Wolf-Hirschhorn syndrome: clinical and genetic data analysis of Lithuanian patients // European journal of human genetics: vol. 27, suppl. 2: Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 2, p. 1896. DOI: 10.1038/s41431-019-0493-3. [DB: Scopus, Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
2 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Mickys, Ugnius; Meškienė, Raimonda; Ambrozaitytė, Laima; Pošiūnas, Gintas; Čerkauskienė, Rimantė; Cimbalistienė, Loreta; Utkus, Algirdas. A case of infantile systemic hyalinosis associated with a frameshift mutation in the ANTXR2 gene // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, p. 912. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0408-3.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]
3 Marcinkutė, Rūta; Braždžiūnaitė, Deimantė; Burokienė, Neringa; Dirsė, Vaidas; Preikšaitienė, Eglė; Utkus, Algirdas. A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects // European journal of human genetics: Conference: 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, June 16-19, 2018. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2019, vol. 27, suppl. 1, art. no. E-P11.08, p. 977-978. Prieiga per internetą: <https://www.nature.com/articles/s41431-019-0408-3.pdf> [žiūrėta 2021-04-22]. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.657; AIF: 4.393; Q2 (2019 InCities JCR SCIE)]

2018
1 Braždžiūnaitė, Deimantė; Cimbalistienė, Loreta; Ambrozaitytė, Laima; Utkus, Algirdas. Early puberty in Xp11.22p23 microduplication syndrome // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1(77), p. 115.
2 Braždžiūnaitė, Deimantė; Laimutė, Rita; Aleksiūnienė, Beata; Dagytė, Evelina; Ambrozaitytė, Laima; Benušienė, Eglė; Cimbalistienė, Loreta; Utkus, Algirdas. Molecular karyotyping: clinical utility and practice // Laboratorinė medicina. Vilnius : Lietuvos laboratorinės medicinos draugija. ISSN 1392-6470. 2018, T. 20, nr. 1, p. 115. [DB: Index Copernicus]
3 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Mickys, Ugnius; Meškienė, Raimonda; Ambrozaitytė, Laima; Pošiūnas, Gintas; Čerkauskienė, Rimantė; Cimbalistienė, Loreta; Utkus, Algirdas. A case of infantile systemic hyalinosis associated with a frameshift mutation in the ANTXR2 gene // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. E-P04.05, p. [1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/4323> [žiūrėta 2018-07-25].
4 Marcinkutė, Rūta; Braždžiūnaitė, Deimantė; Burokienė, Neringa; Dirsė, Vaidas; Preikšaitienė, Eglė; Utkus, Algirdas. A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects // European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19. Milan : ESHG. 2018, abstract no. E-P11.08, p.[ 1]. Prieiga per internetą: <http://www.abstractsonline.com/pp8/#!/4652/presentation/4797> [žiūrėta 2018-07-25].
5 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Aleksiūnienė, Beata; Grigalionienė, Kristina; Ambrozaitytė, Laima; Norkūnienė, V.; Utkus, Algirdas. A case of syndromic split hand/foot malformation type 1 with de novo 7q21.3 deletion // European journal of human genetics: Abstracts from the 50th European Society of human genetics conference: posters, Copenhagen, Denmark, May 27–30, 2017. London : Springer. ISSN 1018-4813. eISSN 1476-5438. 2018, vol. 26, suppl., art. no. P11.109A, p. 502. DOI: 10.1038/s41431-018-0247-7. [DB: Science Citation Index Expanded (Web of Science)] [IF: 3.650; AIF: 4.178; Q2 (2018 InCities JCR SCIE)]

2017
1 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Aleksiūnienė, Beata; Grigalionienė, Kristina; Ambrozaitytė, Laima; Norkūnienė, Valerija; Utkus, Algirdas. A case of syndromic split hand/foot malformation type 1 with de novo 7q21.3 deletion // European human genetics conference 2017, Copenhagen, Denmark, May 27-30. Copenhagen : ESHG. 2017, abstract no. P11.109A, [1 p.]. Prieiga per internetą: <http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=5ceff91c-a4bf-4aba-bcc0-877da2315b85&cKey=6f21b67d-3233-4580-98e3-13d0ad6261f3&mKey={15A3630E-7769-4D64-A80A-47F190AC2F4F}> [žiūrėta 2017-09-28].

2016
1 Braždžiūnaitė, Deimantė; Burnytė, Birutė; Šliužas, Vytautas; Utkus, Algirdas. Rare case of male infertility due to monosomy X and structural rearrangement of chromosome Y // European journal of human genetics: The European Human Genetics Conference, 2016, May 21-24, Barcelona, Spain : abstracts book. London : Nature Publishing Group. ISSN 1018-4813. eISSN 1476-5438. 2016, vol. 24, e-suppl. 1, p. 412. Prieiga per internetą: <https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf>. [DB: MEDLINE, Science Citation Index Expanded (Web of Science)] [IF: 4.287; AIF: 4.136; Q1 (2016 InCities JCR SCIE)]

2015
1 Marcinkutė, Rūta; Braždžiūnaitė, Deimantė; Preikšaitienė, Eglė; Utkus, Algirdas. Išorinės ausies dismorfologinis vertinimas klinikinėje genetikoje = Dysmorphic assessment of the auricle in the clinical genetics // Pediatrija. Vilnius : UAB "Baltijos idėjų grupė" ir partneriai. ISSN 1648-4630. 2015, nr. 2, p. 37-42.