Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.
Published in Genetics in medicine (01.08.2017)
Published in Genetics in medicine (01.08.2017)
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The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study
Kakourou, G, Kahraman, S, Ekmekci, G C, Tac, H A, Kourlaba, G, Kourkouni, E, Sanz, A Cervero, Martin, J, Malmgren, H, Giménez, C, Gold, V, Carvalho, F, Billi, C, Chow, J F C, Vendrell, X, Kokkali, G, Liss, J, Steffann, J, Traeger-Synodinos, J
Published in Human reproduction (Oxford) (01.03.2018)
Published in Human reproduction (Oxford) (01.03.2018)
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One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: retrospective analysis of 569 PGD cycles at the Stockholm PGD centre
Haapaniemi Kouru, K., Malmgren, H., Nordenskjöld, M., Fridström, M., Csemiczky, G., Blennow, E.
Published in Human reproduction (Oxford) (01.09.2012)
Published in Human reproduction (Oxford) (01.09.2012)
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Journal Article
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, FitzPatrick, David R.
Published in Genetics in medicine (01.08.2017)
Published in Genetics in medicine (01.08.2017)
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Small baseline volume of left hippocampus is associated with subsequent conversion of MCI into dementia: The Göteborg MCI study
Eckerström, C, Olsson, E, Borga, M, Ekholm, S, Ribbelin, S, Rolstad, S, Starck, G, Edman, Å, Wallin, A, Malmgren, H
Published in Journal of the neurological sciences (15.09.2008)
Published in Journal of the neurological sciences (15.09.2008)
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Detailed molecular and clinical characterization of three patients with 21q deletions
Lindstrand, A, Malmgren, H, Sahlén, S, Schoumans, J, Nordgren, A, Ergander, U, Holm, E, Anderlid, BM, Blennow, E
Published in Clinical genetics (01.02.2010)
Published in Clinical genetics (01.02.2010)
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Journal Article
Preimplantation genetic diagnosis: twenty years of practice
Iwarsson, E, Malmgren, H, Blennow, E
Published in Seminars in fetal & neonatal medicine (01.04.2011)
Published in Seminars in fetal & neonatal medicine (01.04.2011)
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Journal Article
Comparative genomic hybridization and karyotyping of human embryonic stem cells reveals the occurrence of an isodicentric X chromosome after long‐term cultivation
Inzunza, J., Sahlén, S., Holmberg, K., Strömberg, A.‐M., Teerijoki, H., Blennow, E., Hovatta, O., Malmgren, H.
Published in Molecular human reproduction (01.06.2004)
Published in Molecular human reproduction (01.06.2004)
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Journal Article
High White Matter Lesion Load Is Associated with Hippocampal Atrophy in Mild Cognitive Impairment
Eckerström, C., Olsson, E., Klasson, N., Bjerke, M., Göthlin, M., Jonsson, M., Rolstad, S., Malmgren, H., Wallin, A., Edman, Å.
Published in Dementia and geriatric cognitive disorders (01.01.2011)
Published in Dementia and geriatric cognitive disorders (01.01.2011)
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Journal Article
Combination of Hippocampal Volume and Cerebrospinal Fluid Biomarkers Improves Predictive Value in Mild Cognitive Impairment
Eckerström, C., Andreasson, U., Olsson, E., Rolstad, S., Blennow, K., Zetterberg, H., Malmgren, H., Edman, Å., Wallin, A.
Published in Dementia and geriatric cognitive disorders (01.01.2010)
Published in Dementia and geriatric cognitive disorders (01.01.2010)
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Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH
Lindstrand, A, Schoumans, J, Gustavsson, P, Hanemaaijer, N, Malmgren, H, Blennow, E
Published in Clinical genetics (01.06.2010)
Published in Clinical genetics (01.06.2010)
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Journal Article
Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion
Lindstrand, A., Malmgren, H., Sahlén, S., Xin, H., Schoumans, J., Blennow, E.
Published in American journal of medical genetics. Part A (15.12.2008)
Published in American journal of medical genetics. Part A (15.12.2008)
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Journal Article
Concurrent microdeletion and duplication of 22q11.2
Blennow, E, Lagerstedt, K, Malmgren, H, Sahlén, S, Schoumans, J, Anderlid, BM
Published in Clinical genetics (01.07.2008)
Published in Clinical genetics (01.07.2008)
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A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases
Rousseau, F, Heitz, D, Tarleton, J, MacPherson, J, Malmgren, H, Dahl, N, Barnicoat, A, Mathew, C, Mornet, E, Tejada, I
Published in American journal of human genetics (01.08.1994)
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Published in American journal of human genetics (01.08.1994)
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PGD for dystrophin gene deletions using fluorescence in situ hybridization
Malmgren, H., White, I., Johansson, S., Levkov, L., Iwarsson, E., Fridström, M., Blennow, Elisabeth
Published in Molecular human reproduction (01.05.2006)
Published in Molecular human reproduction (01.05.2006)
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Journal Article
Single cell CGH analysis reveals a high degree of mosaicism in human embryos from patients with balanced structural chromosome aberrations
Malmgren, H., Sahlén, S., Inzunza, J., Aho, M., Rosenlund, B., Fridström, M., Hovatta, O., Ährlund-Richter, L., Nordenskjöld, M., Blennow, E.
Published in Molecular human reproduction (01.05.2002)
Published in Molecular human reproduction (01.05.2002)
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Molecular cytogenetic characterization of an insertional translocation, ins(6;7)(p25;q33q34): Deletion/duplication of 7q33-34 and clinical correlations
Malmgren, H., Malm, G., Sahlén, S., Karlsson, M., Blennow, Elisabeth
Published in American journal of medical genetics. Part A (15.11.2005)
Published in American journal of medical genetics. Part A (15.11.2005)
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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, von Döbeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikström, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H, Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna
Published in Genome medicine (17.03.2021)
Published in Genome medicine (17.03.2021)
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