A nonsense mutation in CEP55 defines a new locus for a Meckel‐like syndrome, an autosomal recessive lethal fetal ciliopathy
Bondeson, M.‐L., Ericson, K., Gudmundsson, S., Ameur, A., Pontén, F., Wesström, J., Frykholm, C., Wilbe, M.
Published in Clinical genetics (01.11.2017)
Published in Clinical genetics (01.11.2017)
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Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders
Nyström, A-M, Ekvall, S, Berglund, E, Björkqvist, M, Braathen, G, Duchen, K, Enell, H, Holmberg, E, Holmlund, U, Olsson-Engman, M, Annerén, G, Bondeson, M-L
Published in Journal of medical genetics (01.08.2008)
Published in Journal of medical genetics (01.08.2008)
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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
Molin, A-M, Andrieux, J, Koolen, D A, Malan, V, Carella, M, Colleaux, L, Cormier-Daire, V, David, A, de Leeuw, N, Delobel, B, Duban-Bedu, B, Fischetto, R, Flinter, F, Kjaergaard, S, Kok, F, Krepischi, A C, Le Caignec, C, Ogilvie, C Mackie, Maia, S, Mathieu-Dramard, M, Munnich, A, Palumbo, O, Papadia, F, Pfundt, R, Reardon, W, Receveur, A, Rio, M, Ronsbro Darling, L, Rosenberg, C, Sá, J, Vallee, L, Vincent-Delorme, C, Zelante, L, Bondeson, M-L, Annerén, G
Published in Journal of medical genetics (01.02.2012)
Published in Journal of medical genetics (01.02.2012)
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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
Flex, Elisabetta, Jaiswal, Mamta, Pantaleoni, Francesca, Martinelli, Simone, Strullu, Marion, Fansa, Eyad K, Caye, Aurélie, De Luca, Alessandro, Lepri, Francesca, Dvorsky, Radovan, Pannone, Luca, Paolacci, Stefano, Zhang, Si-Cai, Fodale, Valentina, Bocchinfuso, Gianfranco, Rossi, Cesare, Burkitt-Wright, Emma M M, Farrotti, Andrea, Stellacci, Emilia, Cecchetti, Serena, Ferese, Rosangela, Bottero, Lisabianca, Castro, Silvana, Fenneteau, Odile, Brethon, Benoît, Sanchez, Massimo, Roberts, Amy E, Yntema, Helger G, Van Der Burgt, Ineke, Cianci, Paola, Bondeson, Marie-Louise, Cristina Digilio, Maria, Zampino, Giuseppe, Kerr, Bronwyn, Aoki, Yoko, Loh, Mignon L, Palleschi, Antonio, Di Schiavi, Elia, Carè, Alessandra, Selicorni, Angelo, Dallapiccola, Bruno, Cirstea, Ion C, Stella, Lorenzo, Zenker, Martin, Gelb, Bruce D, Cavé, Hélène, Ahmadian, Mohammad R, Tartaglia, Marco
Published in Human molecular genetics (15.08.2014)
Published in Human molecular genetics (15.08.2014)
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Journal Article
Candidate Gene Association Study for Noise‐induced Hearing Loss in Two Independent Noise‐exposed Populations
Konings, A., Van Laer, L., Wiktorek‐Smagur, A., Rajkowska, E., Pawelczyk, M., Carlsson, P. I., Bondeson, M. L., Dudarewicz, A., Vandevelde, A., Fransen, E., Huyghe, J., Borg, E., Sliwinska‐Kowalska, M., Van Camp, G.
Published in Annals of human genetics (01.03.2009)
Published in Annals of human genetics (01.03.2009)
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Journal Article
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1
Nyström, AM, Ekvall, S, Allanson, J, Edeby, C, Elinder, M, Holmström, G, Bondeson, ML, Annerén, G
Published in Clinical genetics (01.12.2009)
Published in Clinical genetics (01.12.2009)
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Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation
Thuresson, A.-C., Bondeson, M.-L., Edeby, C., Ellis, P., Langford, C., Dumanski, J.P., Annerén, G.
Published in Cytogenetic and genome research (01.01.2007)
Published in Cytogenetic and genome research (01.01.2007)
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Journal Article
A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1)
Nyström, A.-M., Bondeson, M.-L., Skanke, N., Mårtensson, J., Strömberg, B., Gustafsson, J., Annerén, G.
Published in The journal of clinical endocrinology and metabolism (01.01.2004)
Published in The journal of clinical endocrinology and metabolism (01.01.2004)
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Journal Article
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome
Bondeson, M L, Dahl, N, Malmgren, H, Kleijer, W J, Tönnesen, T, Carlberg, B M, Pettersson, U
Published in Human molecular genetics (01.04.1995)
Published in Human molecular genetics (01.04.1995)
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Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer
Baliakas, Panagiotis, Munters, Arielle R, Kämpe, Anders, Tesi, Bianca, Bondeson, Marie-Louise, Ladenvall, Claes, Eriksson, Daniel
Published in Journal of medical genetics (01.02.2024)
Published in Journal of medical genetics (01.02.2024)
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Journal Article
Histopathological variables and DNA cytometry in parathyroid carcinoma
Bondeson, L, Sandelin, K, Grimelius, L
Published in The American journal of surgical pathology (01.08.1993)
Published in The American journal of surgical pathology (01.08.1993)
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Journal Article
Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene
Lagerstedt, K., Carlberg, B.-M., Karimi-Nejad, R., Kleijer, W.J., Bondeson, M.-L.
Published in Human mutation (01.01.2000)
Published in Human mutation (01.01.2000)
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Journal Article
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
Johansson, Josefin, Lidéus, Sarah, Frykholm, Carina, Gunnarsson, Cecilia, Mihalic, Filip, Gudmundsson, Sanna, Ekvall, Sara, Molin, Anna-Maja, Pham, Mai, Vihinen, Mauno, Lagerstedt-Robinson, Kristina, Nordgren, Ann, Jemth, Per, Ameur, Adam, Annerén, Göran, Wilbe, Maria, Bondeson, Marie-Louise
Published in European journal of human genetics : EJHG (01.03.2024)
Published in European journal of human genetics : EJHG (01.03.2024)
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Journal Article
Molecular and phenotypic variation in patients with severe Hunter syndrome
TIMMS, K. M, BONDESON, M.-L, ALL ANSARI-LARI, M, LAGERSTEDT, K, MUZNY, D. M, DUGAN-ROCHA, S. P, NELSON, D. L, PETTERSSON, U, GIBBS, R. A
Published in Human molecular genetics (01.03.1997)
Published in Human molecular genetics (01.03.1997)
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A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
Wilbe, Maria, Gudmundsson, Sanna, Johansson, Josefin, Ameur, Adam, Stattin, Eva‐Lena, Annerén, Göran, Malmgren, Helena, Frykholm, Carina, Bondeson, Marie‐Louise
Published in Prenatal diagnosis (01.11.2017)
Published in Prenatal diagnosis (01.11.2017)
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Journal Article
Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome
Lagerstedt, Kristina, Karsten, Stanislav L., Carlberg, Britt-Marie, Kleijer, Wim J., Tönnesen, Tönne, Pettersson, Ulf, Bondeson, Marie-Louise
Published in Human molecular genetics (01.04.1997)
Published in Human molecular genetics (01.04.1997)
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Journal Article
Factors associated with cirrhosis development in chronic hepatitis C patients from an area of low prevalence
Verbaan, H., Widell, A., Bondeson, L., Andersson, K., Eriksson, S.
Published in Journal of viral hepatitis (01.01.1998)
Published in Journal of viral hepatitis (01.01.1998)
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