检索结果 - Lagerstedt-Robinson, Kristina

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis 由 Barbaro, Michela, Cook, Jackie, Lagerstedt-Robinson, Kristina, Wedell, Anna

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Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes 由 Helgadottir, Hafdis T., Thutkawkorapin, Jessada, Lagerstedt-Robinson, Kristina, Lindblom, Annika

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Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections: Case Report 由 Hussein, Dargham, Olsson, Christian, Lagerstedt-Robinson, Kristina, Moreira, Tiago

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Massive parallel sequencing in a family with rectal cancer 由 Wallander, Karin, Thutkawkorapin, Jessada, Sahlin, Ellika, Lindblom, Annika, Lagerstedt-Robinson, Kristina

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Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series 由 Andréasson, Mattias, Lagerstedt-Robinson, Kristina, Samuelsson, Kristin, Solders, Göran, Blennow, Kaj, Paucar, Martin, Svenningsson, Per

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SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes 由 Paucar, Martin, Granberg, Tobias, Lagerstedt-Robinson, Kristina, Waldenlind, Elisabet, Petersson, Sven, Nordin, Love, Svenningsson, Per

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Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes 由 Wallander, Karin, Liu, Wen, von Holst, Susanna, Thutkawkorapin, Jessada, Kontham, Vinaykumar, Forsberg, Anna, Lindblom, Annika, Lagerstedt‐Robinson, Kristina

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Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients 由 Samola Winnberg, Johanna, Rudd, Eva, Keränen, Anne, Lagerstedt-Robinson, Kristina, Lindblom, Annika, Nilsson, Magnus, Lindblad, Mats, Sjödahl, Krister

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PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network 由 Rasi, Chiara, Nilsson, Daniel, Magnusson, Måns, Lesko, Nicole, Lagerstedt‐Robinson, Kristina, Wedell, Anna, Lindstrand, Anna, Wirta, Valtteri, Stranneheim, Henrik

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GSTM1 Gene Expression Correlates to Leiomyoma Volume Regression in Response to Mifepristone Treatment 由 Engman, Mikael, Varghese, Suby, Lagerstedt Robinson, Kristina, Malmgren, Helena, Hammarsjö, Anna, Byström, Birgitta, L Lalitkumar, Parameswaran Grace, Gemzell-Danielsson, Kristina

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X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4 由 Smeds, Henrik, Wales, Jeremy, Karltorp, Eva, Anderlid, Britt-Marie, Henricson, Cecilia, Asp, Filip, Anmyr, Lena, Lagerstedt-Robinson, Kristina, Löfkvist, Ulrika

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Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants 由 Frisk, Sofia, Wachtmeister, Alexandra, Laurell, Tobias, Lindstrand, Anna, Jäntti, Nina, Malmgren, Helena, Lagerstedt‐Robinson, Kristina, Tesi, Bianca, Taylan, Fulya, Nordgren, Ann

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A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1 由 Pontén, Emeli, Frisk, Sofia, Taylan, Fulya, Vaz, Raquel, Wessman, Sandra, de Kock, Leanne, Pal, Niklas, Foulkes, William D, Lagerstedt-Robinson, Kristina, Nordgren, Ann

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Genetic anticipation in Swedish Lynch syndrome families 由 von Salomé, Jenny, Boonstra, Philip S., Karimi, Masoud, Silander, Gustav, Stenmark-Askmalm, Marie, Gebre-Medhin, Samuel, Aravidis, Christos, Nilbert, Mef, Lindblom, Annika, Lagerstedt-Robinson, Kristina

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Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation 由 von Salomé, Jenny, Liu, Tao, Keihäs, Markku, Morak, Moni, Holinski-Feder, Elke, Berry, Ian R., Moilanen, Jukka S., Baert-Desurmont, Stéphanie, Lindblom, Annika, Lagerstedt-Robinson, Kristina

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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population 由 Lagerstedt-Robinson, Kristina, Baranowska Körberg, Izabella, Tsiaprazis, Stefanos, Björck, Erik, Tham, Emma, Poluha, Anna, Hellström Pigg, Maritta, Paulsson-Karlsson, Ylva, Nordenskjöld, Magnus, Johansson-Soller, Maria, Aravidis, Christos

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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families 由 Karimi, Masoud, von Salomé, Jenny, Aravidis, Christos, Silander, Gustav, Askmalm, Marie Stenmark, Henriksson, Isabelle, Gebre-Medhin, Samuel, Frödin, Jan-Erik, Björck, Erik, Lagerstedt-Robinson, Kristina, Lindblom, Annika, Tham, Emma

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Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations 由 Paucar, Martin, Pajak, Aleksandra, Freyer, Christoph, Bergendal, Åsa, Döry, Margit, Laffita-Mesa, José Miguel, Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Savitcheva, Irina, Walker, Ruth H., Wedell, Anna, Wredenberg, Anna, Svenningsson, Per

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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... 由 Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M. B., Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel

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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses 由 Hammarsjö, Anna, Pettersson, Maria, Chitayat, David, Handa, Atsuhiko, Anderlid, Britt-Marie, Bartocci, Marco, Basel, Donald, Batkovskyte, Dominyka, Beleza-Meireles, Ana, Conner, Peter, Eisfeldt, Jesper, Girisha, Katta M., Chung, Brian Hon-Yin, Horemuzova, Eva, Hyodo, Hironobu, Korņejeva, Liene, Lagerstedt-Robinson, Kristina, Lin, Angela E., Magnusson, Måns, Moosa, Shahida, Nayak, Shalini S., Nilsson, Daniel, Ohashi, Hirofumi, Ohashi-Fukuda, Naoko, Stranneheim, Henrik, Taylan, Fulya, Traberg, Rasa, Voss, Ulrika, Wirta, Valtteri, Nordgren, Ann, Nishimura, Gen, Lindstrand, Anna, Grigelioniene, Giedre

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