Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Maritta Hellström, Pigg"'
Autor:
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)
Abstract Background We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD repr
Externí odkaz:
https://doaj.org/article/24239a4e507a406db912b81371637d5d
Autor:
Kristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, Erik Björck, Emma Tham, Anna Poluha, Maritta Hellström Pigg, Ylva Paulsson-Karlsson, Magnus Nordenskjöld, Maria Johansson-Soller, Christos Aravidis
Publikováno v:
PLoS ONE, Vol 17, Iss 2 (2022)
Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only a few hundreds of families have so far been described in the literature. Patients with B
Externí odkaz:
https://doaj.org/article/3b5909c710a74adc9dfc88517ffddffa
Autor:
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C. Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V. Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas D. Zimmer, Svenja Alter, Judith Fischer
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 717
Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and har
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ceb954c6fb55ef6956af857e5515ab
Autor:
Anna Lindstrand, Marlene Ek, Malin Kvarnung, Britt-Marie Anderlid, Erik Björck, Jonas Carlsten, Jesper Eisfeldt, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Hafdís T. Helgadóttir, Maritta Hellström-Pigg, Ekaterina Kuchinskaya, Kristina Lagerstedt-Robinson, Lars-Åke Levin, Agne Lieden, Hillevi Lindelöf, Helena Malmgren, Daniel Nilsson, Eva Svensson, Martin Paucar, Ellika Sahlin, Bianca Tesi, Emma Tham, Johanna Winberg, Max Winerdal, Josephine Wincent, Maria Johansson Soller, Maria Pettersson, Ann Nordgren
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(11)
Purpose: Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated with several different approaches in clinical genetic diagnostics. Methods: We compared the results from 3 diagnostic pipelines
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4a49b485e0df1df3b66d4abe0ac506d
https://pubmed.ncbi.nlm.nih.gov/36066546
https://pubmed.ncbi.nlm.nih.gov/36066546
Autor:
Tommy Stödberg, Magnus Nordenskjöld, Emma Tham, Virpi Töhönen, Karin Naess, Bianca Tesi, Eliane Sardh, Erik Björck, Martin Engvall, Helena Malmgren, Josephine Wincent, Adam Rosenbaum, Peter Gustavsson, Sofie Vonlanthen, Anders Jemt, Måns Magnusson, Helene Bruhn, Anna Wredenberg, Mikael Oscarson, Sofia Ygberg, Kristina Lagerstedt-Robinson, Erik Iwarsson, Carolina Backman Johansson, Christoph Freyer, Michela Barbaro, Ellika Sahlin, Henrik Stranneheim, Anna Lindstrand, Anna Wedell, Ann Nordgren, Ulrika von Döbeln, Britt-Marie Anderlid, Mikael Laaksonen, Maria Pettersson, Henrik Arnell, Nicole Lesko, Rolf Zetterström, Chiara Rasi, Ann-Charlotte Wikström, Malin Kvarnung, Valtteri Wirta, Sara Lind Enoksson, Giedre Grigelioniene, Maria Johansson Soller, Anna Hammarsjö, Ola Winqvist, Daphne Vassiliou, Håkan Thonberg, Per Marits, Jesper Eisfeldt, Daniel Nilsson, Maritta Hellström-Pigg
Publikováno v:
Genome Medicine
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)
Background We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD represents a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f092cdb3016d39ea79ac98c6eb064dcc
http://europepmc.org/articles/PMC7968334
http://europepmc.org/articles/PMC7968334
Autor:
Julia Kopp, Peter C. van den Akker, Matthias Schmuth, Zhou Yang, Angela Hernández-Martín, Bakar Bouadjar, Anette Bygum, Katariina Hannula-Jouppi, Maria C. Bolling, Svenja Alter, Iliana Tantcheva-Poor, Emmanuelle Bourrat, Anders Vahlquist, Juliette Mazereeuw-Hautier, Andreas Zimmer, Kathrin A. Giehl, Regina C. Betz, Gianluca Tadini, Sophie Guez, Alrun Hotz, Robert Gruber, Maritta Hellström Pigg, Cristina Has, Judith Fischer, Michela Brena, Katalin Komlosi, Vinzenz Oji, Natalie Jonca, A.D. Irvine, Kira Süßmuth, Giovanna Zambruno
Publikováno v:
Genes
Hotz, A, Kopp, J, Bourrat, E, Oji, V, Komlosi, K, Giehl, K, Bouadjar, B, Bygum, A, Tantcheva-Poor, I, Hellström Pigg, M, Has, C, Yang, Z, Irvine, A D, Betz, R C, Zambruno, G, Tadini, G, Süßmuth, K, Gruber, R, Schmuth, M, Mazereeuw-Hautier, J, Jonca, N, Guez, S, Brena, M, Hernandez-Martin, A, van den Akker, P, Bolling, M C, Hannula-Jouppi, K, Zimmer, A D, Alter, S, Vahlquist, A & Fischer, J 2021, ' Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients ', Genes, vol. 12, no. 1, 80 . https://doi.org/10.3390/genes12010080
Genes, 12(1):80. MDPI AG
Genes, Vol 12, Iss 80, p 80 (2021)
Volume 12
Issue 1
Hotz, A, Kopp, J, Bourrat, E, Oji, V, Komlosi, K, Giehl, K, Bouadjar, B, Bygum, A, Tantcheva-Poor, I, Hellström Pigg, M, Has, C, Yang, Z, Irvine, A D, Betz, R C, Zambruno, G, Tadini, G, Süßmuth, K, Gruber, R, Schmuth, M, Mazereeuw-Hautier, J, Jonca, N, Guez, S, Brena, M, Hernandez-Martin, A, van den Akker, P, Bolling, M C, Hannula-Jouppi, K, Zimmer, A D, Alter, S, Vahlquist, A & Fischer, J 2021, ' Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients ', Genes, vol. 12, no. 1, 80 . https://doi.org/10.3390/genes12010080
Genes, 12(1):80. MDPI AG
Genes, Vol 12, Iss 80, p 80 (2021)
Volume 12
Issue 1
The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49cb20b2ae1a8de6a5b6714d6477525f
http://europepmc.org/articles/PMC7826849
http://europepmc.org/articles/PMC7826849
Autor:
Jan Gustafsson, Maritta Hellström Pigg, Kjell Wikvall, Maria Norlin, Johan Lundqvist, Maria Ellfolk
Publikováno v:
Basic & Clinical Pharmacology & Toxicology. 120:59-63
Vitamin D metabolism was studied in primary human dermal fibroblasts with focus on drug-mediated gene regulation related to adverse side effects of antiretroviral drugs used in HIV therapy. The fibroblasts expressed mRNA for cytochrome P450 (CYP) enz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ebccaaa02737c8c87f4db1cb536f2ed
https://doi.org/10.1111/bcpt.12641
https://doi.org/10.1111/bcpt.12641
Autor:
Marie Virtanen, Andreas Zimmer, Judith Fischer, Anders Vahlquist, Alrun Hotz, Flemming Brandrup, Maritta Hellström Pigg, Anette Bygum, Agneta Gånemo
Publikováno v:
Hellström Pigg, M, Bygum, A, Gånemo, A, Virtanen, M, Brandrup, F, Zimmer, A D, Hotz, A, Vahlquist, A & Fischer, J 2016, ' Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia : Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients ', Acta Dermato-Venereologica, vol. 96, no. 7, pp. 932–937 . https://doi.org/10.2340/00015555-2418
Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th sub
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd31d57059ea6062d729345541144a9
https://doi.org/10.2340/00015555-2418
https://doi.org/10.2340/00015555-2418
Autor:
Maria, Norlin, Johan, Lundqvist, Maria, Ellfolk, Maritta, Hellström Pigg, Jan, Gustafsson, Kjell, Wikvall
Publikováno v:
Basicclinical pharmacologytoxicology. 120(1)
Vitamin D metabolism was studied in primary human dermal fibroblasts with focus on drug-mediated gene regulation related to adverse side effects of antiretroviral drugs used in HIV therapy. The fibroblasts expressed mRNA for cytochrome P450 (CYP) enz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1af5bcacbf4a6d89fa6dd5bcc65c559a
https://pubmed.ncbi.nlm.nih.gov/27404500
https://pubmed.ncbi.nlm.nih.gov/27404500
Autor:
Linshu, Zhao, Anders, Vahlquist, Marie, Virtanen, Lena, Wennerstrand, Lisbet K, Lind, Anita, Lundström, Maritta Hellström, Pigg
Publikováno v:
Acta dermato-venereologica. 95(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::152b9c1a215d8573f25e8b19c8eab5dd
https://pubmed.ncbi.nlm.nih.gov/26139149
https://pubmed.ncbi.nlm.nih.gov/26139149