Investigation of the functional effect of monoamine oxidase polymorphisms in human brain von BALCIUNIENE, J, EMILSSON, L, ORELAND, L, PETTERSSON, U, JAZIN, E. E

Volltext

Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities von Balciuniene, Jorune, Feng, Ningping, Iyadurai, Kelly, Hirsch, Betsy, Charnas, Lawrence, Bill, Brent R., Easterday, Mathew C., Staaf, Johan, Oseth, LeAnn, Czapansky-Beilman, Desiree, Avramopoulos, Dimitri, Thomas, George H., Borg, Åke, Valle, David, Schimmenti, Lisa A., Selleck, Scott B.

Volltext

Alpha-tectorin involvement in hearing disabilities : one gene : two phenotypes von BALCIUNIENE, J, DAHL, N, JALONEN, P, VERHOEVEN, K, VAN CAMP, G, BORG, E, PETTERSSON, U, JAZIN, E. E

Volltext

A Gene for Autosomal Dominant Progressive Cone Dystrophy (CORD5) Maps to Chromosome 17p12–p13 von Balciuniene, Jorune, Johansson, Kent, Sandgren, Ola, Wachtmeister, Lillemor, Holmgren, Gösta, Kristina Forsman, and

Volltext

Two commonly expanded CAG/CTG repeat loci: involvement in affective disorders? von Lindblad, K, Nylander, P-O, Zander, C, Yuan, Q-P, Ståhle, L, Engström, C, Balciuniene, J, Pettersson, U, Breschel, T, McInnis, M, Ross, C A, Adolfsson, R, Schalling, M

Volltext

Increased monoamine oxidase messenger RNA expression levels in frontal cortex of Alzheimer's disease patients von Emilsson, Lina, Saetre, Peter, Balciuniene, Jorune, Castensson, Anja, Cairns, Nigel, Jazin, Elena E.

Volltext

Linkage analysis of candidate loci in families with recurrent major depression von Balciuniene, J, Yuan, Q-P, Engström, C, Lindblad, K, Nylander, P O, Sundvall, M, Schalling, M, Pettersson, U, Adolfsson, R, Jazin, E E

Volltext

Evidence for Digenic Inheritance of Nonsyndromic Hereditary Hearing Loss in a Swedish Family von Balciuniene, Jorune, Dahl, Niklas, Borg, Erik, Samuelsson, Eva, Koisti, Markus J., Pettersson, Ulf, Jazin, Elena E.

Volltext

Linkage analysis of a large swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23 von Lindholm, Eva, Ekholm, Birgit, Balciuniene, Jorune, Johansson, Gunnel, Castensson, Anja, Koisti, Markus, Nylander, P.-O., Pettersson, Ulf, Adolfsson, Rolf, Jazin, Elena

Volltext

Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in pathology... von Lindqvist, A K, Magnusson, P K, Balciuniene, J, Wadelius, C, Lindholm, E, Alarcón-Riquelme, M E, Gyllensten, U B

Volltext

The geographic distribution of monoamine oxidase haplotypes supports a bottleneck during the dispersion of modern humans from Africa von Balciuniene, J, Syvänen, A C, McLeod, H L, Pettersson, U, Jazin, E E

Volltext

Alpha-tectorin involvement in hearing disabilities: one gene – two phenotypes von Balciuniene, J., Dahl, N., Jalonen, P., Verhoeven, K., Van Camp, G., Borg, E., Pettersson, U., Jazin, E.E.

Volltext

Two commonly expanded CAG/CTG repeat loci: involvement in affectivedisorders? von Lindblad, K, Nylander, PO, Zander, C, Yuan, QP, Ståhle, L, Engström, C, Balciuniene, J, Pettersson, Ulf, Breschel, T, McInnis, M, Ross, CA, Adolfsson, R, Schalling, M

Volltext

An ontological foundation for ocular phenotypes and rare eye diseases von Sergouniotis, PI, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, PN, Dollfus, H, Ashworth, JL, Audo, I, Balciuniene, VJ, Banin, E, Black, GC, Boehringer, D, Boon, CJF, Bremond-Gignac, D, Calvas, P, Castela, G, Dagnelie, G, Downes, SM, Fasolo, A, Fasser, C, Gelzinis, A, Goetz, K, Hamann, S, Heon, E, Iarossi, G, Kawasaki, A, Keegan, D, Kessel, L, Khan, K, Klett, A, Koehler, S, Leroy, BP, Lisch, W, Liskova, P, Lorenz, B, Maggi, R, Meunier, I, Mohand-Said, S, Nowomiejska, K, Perdomo, Y, Petzold, A, Preising, M, Scholl, HPN, Sodi, A, Stingl, K, Studer, F, Suppiej, A, Touitou, V, Traboulsi, E, Trumpaitis, J, Tuft, SJ, Vaclavik, V, Valeina, S, Van Cauwenbergh, C, Verloes, A, Vighetto, A, Wheeler, R, Wheeler-Schilling, T, Yu-Wai-Man, P, Zobor, D, Zrenner, E

Volltext bestellen

Linkage analysis of a Swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23 von Lindholm, E, Ekholm, B, Balciuniene, J, Johansson, G, Castensson, A, Koisti, M, Nylander, P O, Pettersson, U, Adolfsson, R, Jazin, E

Volltext

Etv2 and fli1b function together as key regulators of vasculogenesis and angiogenesis von Craig, Michael P, Grajevskaja, Viktorija, Liao, Hsin-Kai, Balciuniene, Jorune, Ekker, Stephen C, Park, Joo-Seop, Essner, Jeffrey J, Balciunas, Darius, Sumanas, Saulius

Volltext

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss von Guan, Qiaoning, Balciuniene, Jorune, Cao, Kajia, Fan, Zhiqian, Biswas, Sawona, Wilkens, Alisha, Gallo, Daniel J, Bedoukian, Emma, Tarpinian, Jennifer, Jayaraman, Pushkala, Sarmady, Mahdi, Dulik, Matthew, Santani, Avni, Spinner, Nancy, Abou Tayoun, Ahmad N, Krantz, Ian D, Conlin, Laura K, Luo, Minjie

Volltext

310 The significance of epidermal growth factor concentrations in non-invasively obtained amniotic fluid predicting respiratory outcomes of preterm neonates von Gulbiniene, V., Balciuniene, G., Petroniene, J., Viliene, R., Dumalakiene, I., Pilypiene, I., Ramasauskaite, D.

Volltext

Cancer cytogenetics in a genomics world: Wedding the old with the new von Balciuniene, Jorune, Ning, Yi, Lazarus, Hillard M., Aikawa, Vania, Sherpa, Sarina, Zhang, Yanming, Morrissette, Jennifer J.D.

Volltext

P482: Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome von Hegde, Madhuri, Balciuniene, Jorune, Guo, Fen, Ma, Zeqiang, Brown, Keith, Choudhary, S., Siddique, A., Ranganathan, S., Armstrong, J.

Volltext