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European regulation on orphan medicinal products: 10 years of experience and future perspectives Committee for Orphan Medicinal Products and the European Medicines Agency ... Nature Reviews Drug Discovery 10 (5), 341-349, 2011 | 101 | 2011 |
Variation in FGF1, FOXE1, and TIMP2genes is associated with nonsyndromic cleft lip with or without cleft palate T Nikopensius, I Kempa, L Ambrozaitytė, T Jagomägi, M Saag, ... Birth Defects Research Part A: Clinical and Molecular Teratology 91 (4), 218-225, 2011 | 54 | 2011 |
Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate T Nikopensius, T Jagomägi, K Krjutškov, V Tammekivi, M Saag, I Prane, ... Birth Defects Research Part A: Clinical and Molecular Teratology 88 (9), 748-756, 2010 | 51 | 2010 |
Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients T Nikopensius, L Ambrozaityte, KU Ludwig, S Birnbaum, T Jagomägi, ... Am J Med Genet A 149 (11), 2551-2553, 2009 | 45 | 2009 |
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population V Mikstiene, A Jakaitiene, J Byckova, E Gradauskiene, E Preiksaitiene, ... BMC genetics 17, 1-12, 2016 | 32 | 2016 |
A single gene deletion on 4q28. 3: PCDH18–a new candidate gene for intellectual disability? J Kasnauskiene, Z Ciuladaite, E Preiksaitiene, A Matulevičienė, ... European journal of medical genetics 55 (4), 274-277, 2012 | 30 | 2012 |
NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features J Sachwitz, R Meyer, G Fekete, S Spranger, A Matulevičienė, V Kučinskas, ... Clinical Genetics 91 (1), 73-78, 2017 | 22 | 2017 |
Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations I Kempa, L Ambrozaitytė, J Stavusis, I Akota, B Barkane, A Krumina, ... Stomatologija/issued by public institution" Odontologijos studija"...[et al.], 2014 | 18 | 2014 |
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence CT Hübner, R Meyer, A Kenawy, L Ambrozaityte, A Matuleviciene, F Kraft, ... The Journal of Clinical Endocrinology & Metabolism 105 (7), 2401-2407, 2020 | 17 | 2020 |
Heterogeneity of oral clefts in relation to associated congenital anomalies A Matulevičienė, E Preikšaitienė, L Linkevičienė, M Radavičius, A Molytė, ... Medicina 49 (2), 11, 2013 | 14 | 2013 |
The incidence of cleft lip and/or palate among newborns in Lithuania, 1993–1997 A Vasiliauskas, A Utkus, A Matulevičienė, L Linkevičienė, V Kučinskas Acta medica Lituanica 11 (2), 1-6, 2004 | 14 | 2004 |
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies I Inashkina, E Jankevics, J Stavusis, I Vasiljeva, K Viksne, I Micule, ... BMC Musculoskeletal Disorders 17, 1-6, 2016 | 12 | 2016 |
Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy A Matuleviciene, R Meškiene, A Morkuniene, L Ambrozaityte, ... Clinical Dysmorphology 25 (1), 7-11, 2016 | 12 | 2016 |
Juvenile Huntington’s disease: two case reports and a review of the literature S Lesinskienė, D Rojaka, R Praninskienė, A Morkūnienė, A Matulevičienė, ... Journal of medical case reports 14, 1-5, 2020 | 11 | 2020 |
NEGALIOSGENETINĖSPRIEÞASTYS: KLINIKINIAIATVEJAI Ž ČIULADAITĖ, E PREIKŠAITIENĖ, J KASNAUSKIENĖ, A UTKUS, ... Sveikatos mokslai 22 (1), 67-72, 2012 | 7 | 2012 |
Orofacial clefts with associated anomalies in Lithuania E Zarakauskaitė, A Matulevičienė, A Utkus, V Kučinskas, L Linkevičienė Acta Medica Lituanica 14 (1), 17-23, 2007 | 7 | 2007 |
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome AM Van Eeghen, D Stemkens, JR Fernández-Fructuoso, A Maruani, ... European journal of medical genetics 66 (7), 104747, 2023 | 5 | 2023 |
SOX9 p. Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings E Preiksaitiene, E Benušienė, A Matulevičienė, K Grigalionienė, A Utkus, ... American Journal of Medical Genetics Part A 170 (3), 781-784, 2016 | 5 | 2016 |
Inherited and de novo variation in Lithuanian genomes: Introduction to the analysis of the generational shift A Urnikyte, L Pranckeniene, I Domarkiene, S Dauengauer-Kirliene, ... Genes 13 (4), 569, 2022 | 4 | 2022 |