Stebėti
Aušra Matulevičienė
Aušra Matulevičienė
Kiti vardaiAusra Matuleviciene
Patvirtintas el. paštas mf.vu.lt
Pavadinimas
Cituota
Cituota
Metai
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290‐related phenotypes
F Coppieters, I Casteels, F Meire, S De Jaegere, S Hooghe, ...
Human mutation 31 (10), E1709-E1766, 2010
1672010
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
1012011
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
542011
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
512010
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
452009
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
322016
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
302012
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
222017
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
182014
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
172020
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
142013
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
142004
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
122016
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
122016
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
112020
NEGALIOSGENETINĖSPRIEÞASTYS: KLINIKINIAIATVEJAI
Ž ČIULADAITĖ, E PREIKŠAITIENĖ, J KASNAUSKIENĖ, A UTKUS, ...
Sveikatos mokslai 22 (1), 67-72, 2012
72012
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
72007
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
52023
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
52016
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
42022
Sistema negali atlikti operacijos. Bandykite vėliau dar kartą.
Straipsniai 1–20