A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
Belengeanu, V, Gamage, T H, Farcas, S, Stoian, M, Andreescu, N, Belengeanu, A, Frengen, E, Misceo, D
Published in Gene (10.04.2014)
Published in Gene (10.04.2014)
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1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development
Misceo, D., Barøy, T., Helle, J.R., Braaten, Ø., Fannemel, M., Frengen, E.
Published in Gene (01.10.2012)
Published in Gene (01.10.2012)
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SCA27 caused by a chromosome translocation: further delineation of the phenotype
Misceo, D., Fannemel, M., Barøy, T., Roberto, R., Tvedt, B., Jæger, T., Bryn, V., Strømme, P., Frengen, E.
Published in Neurogenetics (01.10.2009)
Published in Neurogenetics (01.10.2009)
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A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism
Misceo, D., Rødningen, O.K., Barøy, T., Sorte, H., Mellembakken, J.R., Strømme, P., Fannemel, M., Frengen, E.
Published in American journal of medical genetics. Part A (01.02.2011)
Published in American journal of medical genetics. Part A (01.02.2011)
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Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
Strømme, Petter, Groeneweg, Stefan, Lima de Souza, Elaine C, Zevenbergen, Chantal, Torgersbråten, Anette, Holmgren, Asbjørn, Gurcan, Ebrar, Meima, Marcel E, Peeters, Robin P, Visser, W Edward, Høneren Johansson, Linda, Babovic, Almira, Zetterberg, Henrik, Heuer, Heike, Frengen, Eirik, Misceo, Doriana, Visser, Theo J
Published in Thyroid (New York, N.Y.) (01.11.2018)
Published in Thyroid (New York, N.Y.) (01.11.2018)
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Construction of bacterial artificial chromosome (BAC/PAC) libraries
Osoegawa, K, de Jong, P J, Frengen, E, Ioannou, P A
Published in Current protocols in molecular biology (Print) (01.08.2001)
Published in Current protocols in molecular biology (Print) (01.08.2001)
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A de novo 2.3Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
Belengeanu, V., Gamage, T.H., Farcas, S., Stoian, M., Andreescu, N., Belengeanu, A., Frengen, E., Misceo, D.
Published in Gene (10.04.2014)
Published in Gene (10.04.2014)
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STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
Gamage, Thilini H., Gunnes, Gjermund, Lee, Robert Hugh, Louch, William Edward, Holmgren, Asbjørn, Bruton, Joseph D., Lengle, Emma, Kolstad, Terje R. Selnes, Revold, Tobias, Amundsen, Silja Svanstrøm, Dalen, Knut Tomas, Holme, Pål Andre, Tjønnfjord, Geir Erland, Christensen, Geir, Westerblad, Håkan, Klungland, Arne, Bergmeier, Wolfgang, Misceo, Doriana, Frengen, Eirik
Published in Cell calcium (Edinburgh) (01.12.2018)
Published in Cell calcium (Edinburgh) (01.12.2018)
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The gene cluster containing the LCAT gene is conserved between human and pig
FRENGEN, E, THOMSEN, P. D, BREDE, G, SOLHEIM, J, DE JONG, P. J, PRYDZ, H
Published in Cytogenetic and genome research (01.01.1997)
Published in Cytogenetic and genome research (01.01.1997)
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Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Skauli, Nadia, Wallace, Sean, Chiang, Samuel C C, Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan T, Strømme, Petter, Frengen, Eirik, Misceo, Doriana
Published in Genes (29.11.2016)
Published in Genes (29.11.2016)
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A bacterial artificial chromosome library for sequencing the complete human genome
Osoegawa, K, Mammoser, A G, Wu, C, Frengen, E, Zeng, C, Catanese, J J, de Jong, P J
Published in Genome research (01.03.2001)
Published in Genome research (01.03.2001)
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Bacterial artificial chromosome libraries for mouse sequencing and functional analysis
Osoegawa, K, Tateno, M, Woon, P Y, Frengen, E, Mammoser, A G, Catanese, J J, Hayashizaki, Y, de Jong, P J
Published in Genome research (01.01.2000)
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Published in Genome research (01.01.2000)
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Isolation of region-specific probes from pig chromosome 6 by coincidence cloning
Frengen, E, Thomsen, P D, Schmitz, A, Frelat, G, Davies, W
Published in Mammalian genome (01.08.1994)
Published in Mammalian genome (01.08.1994)
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Alternative transcripts of the candidate tumor suppressor gene, WWOX, are expressed at high levels in human breast tumors
Driouch, K, Prydz, H, Monese, R, Johansen, H, Lidereau, R, Frengen, E
Published in Oncogene (14.03.2002)
Published in Oncogene (14.03.2002)
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