Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

por Barbaro, Michela, Cook, Jackie, Lagerstedt-Robinson, Kristina, Wedell, Anna
Publicado 2012

Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes

por Helgadottir, Hafdis T., Thutkawkorapin, Jessada, Lagerstedt-Robinson, Kristina, Lindblom, Annika
Publicado 2021

Novel Mutation of the TGF-β 3 Protein (Loeys-Dietz Type 5) Associated With Aortic and Carotid Dissections: Case Report

por Hussein, Dargham, Olsson, Christian, Lagerstedt-Robinson, Kristina, Moreira, Tiago
Publicado 2021

Massive parallel sequencing in a family with rectal cancer

por Wallander, Karin, Thutkawkorapin, Jessada, Sahlin, Ellika, Lindblom, Annika, Lagerstedt-Robinson, Kristina
Publicado 2021

Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series

por Andréasson, Mattias, Lagerstedt-Robinson, Kristina, Samuelsson, Kristin, Solders, Göran, Blennow, Kaj, Paucar, Martin, Svenningsson, Per
Publicado 2019

SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes

por Paucar, Martin, Granberg, Tobias, Lagerstedt-Robinson, Kristina, Waldenlind, Elisabet, Petersson, Sven, Nordin, Love, Svenningsson, Per
Publicado 2020

Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes

por Wallander, Karin, Liu, Wen, von Holst, Susanna, Thutkawkorapin, Jessada, Kontham, Vinaykumar, Forsberg, Anna, Lindblom, Annika, Lagerstedt‐Robinson, Kristina
Publicado 2019

Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients

por Samola Winnberg, Johanna, Rudd, Eva, Keränen, Anne, Lagerstedt-Robinson, Kristina, Lindblom, Annika, Nilsson, Magnus, Lindblad, Mats, Sjödahl, Krister
Publicado 2020

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

por Rasi, Chiara, Nilsson, Daniel, Magnusson, Måns, Lesko, Nicole, Lagerstedt‐Robinson, Kristina, Wedell, Anna, Lindstrand, Anna, Wirta, Valtteri, Stranneheim, Henrik
Publicado 2022

GSTM1 Gene Expression Correlates to Leiomyoma Volume Regression in Response to Mifepristone Treatment

por Engman, Mikael, Varghese, Suby, Lagerstedt Robinson, Kristina, Malmgren, Helena, Hammarsjö, Anna, Byström, Birgitta, L Lalitkumar, Parameswaran Grace, Gemzell-Danielsson, Kristina
Publicado 2013

X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4

por Smeds, Henrik, Wales, Jeremy, Karltorp, Eva, Anderlid, Britt-Marie, Henricson, Cecilia, Asp, Filip, Anmyr, Lena, Lagerstedt-Robinson, Kristina, Löfkvist, Ulrika
Publicado 2021

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

por Frisk, Sofia, Wachtmeister, Alexandra, Laurell, Tobias, Lindstrand, Anna, Jäntti, Nina, Malmgren, Helena, Lagerstedt‐Robinson, Kristina, Tesi, Bianca, Taylan, Fulya, Nordgren, Ann
Publicado 2022

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

por Pontén, Emeli, Frisk, Sofia, Taylan, Fulya, Vaz, Raquel, Wessman, Sandra, de Kock, Leanne, Pal, Niklas, Foulkes, William D, Lagerstedt-Robinson, Kristina, Nordgren, Ann
Publicado 2022

Genetic anticipation in Swedish Lynch syndrome families

por 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
Publicado 2017

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation

por 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
Publicado 2017

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

por 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
Publicado 2022

A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

por 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
Publicado 2018

Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort

por Svensson, Sara, Zagoras, Theofanis, Aravidis, Christos, Askmalm, Marie Stenmark, Björck, Erik, Borg, Åke, Kuchinskaya, Ekaterina, Nilbert, Mef, Nordling, Margareta, Rohlin, Anna, Silander, Gustav, Lagerstedt‐Robinson, Kristina, Gebre‐Medhin, Samuel
Publicado 2022

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

por 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
Publicado 2018

Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation

por Maya-González, Carolina, Wessman, Sandra, Lagerstedt-Robinson, Kristina, Taylan, Fulya, Tesi, Bianca, Kuchinskaya, Ekaterina, McCluggage, W. Glenn, Poluha, Anna, Holm, Stefan, Nergårdh, Ricard, Díaz De Ståhl, Teresita, Höybye, Charlotte, Tettamanti, Giorgio, Delgado-Vega, Angelica Maria, Skarin Nordenvall, Anna, Nordgren, Ann
Publicado 2023