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Viser treff 1-23 av 23

2023
1 Landsend, Erlend Christoffer Sommer; von der Lippe, Charlotte; Mediå, Line Merete; Miller, Jeanette; Berge, Knut Erik; Sigurdardottir, Solrun.
Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia. Acta Ophthalmologica 2023 ;Volum 12.(22) s. -
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2 Sigurdardottir, Solrun; von der Lippe, Charlotte; Mediå, Line Merete; Miller, Jeanette; Landsend, Erlend Christoffer Sommer.
Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study. Health Psychology and Behavioral Medicine 2023 ;Volum 11.(1) s. 1-13
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2022
3 Daae, Elisabeth; Feragen, Kristin Judith Billaud; Sitek, Jan Cezary; von der Lippe, Charlotte.
It’s more than just lubrication of the skin: parents’ experiences of caring for a child with ichthyosis. Health Psychology and Behavioral Medicine 2022 ;Volum 10.(1) s. 335-356
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4 von der Lippe, Charlotte; Neteland, Ingrid; Feragen, Kristin Judith Billaud.
Children with a rare congenital genetic disorder: a systematic review of parent experiences. Orphanet Journal of Rare Diseases 2022 ;Volum 17.(1)
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2021
5 Lippe, Charlotte von der; Tveten, Kristian; Prescott, Trine; Holla, Øystein Lunde; Busk, Øyvind Løvold; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Júlia; Fry, Andrew E.; Lim, Derek; Jolles, Stephen; Evans, Jennifer; Osio, Deborah; Macmillan, Carol; Bruno, Irene; Faltera, Flavio; Climent, Salvador; Urreitzi, Roser; Hoenicka, Janet; Palau, Francesc; Cohen, Ana S. A.; Engleman, Kendra; Zhou, Dihong; Amudhavalli, Shivarajan M.; Jeanne, Médéric; Bonnet-Brilhault, Frédérique; Lévy, Jonathan; Drunat, Séverine; Derive, Nicolas; Haug, Marte Gjøl; Thorstensen, Wenche Moe.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American Journal of Medical Genetics. Part A 2021
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6 Pihlstrøm, Hege Kampen; Weedon-Fekjær, Mina Susanne; Bjerkely, Birgitte Leisner; von der Lippe, Charlotte; Ørstavik, Kristin; Mathisen, Per; Heimdal, Ketil; Jenssen, Trond Geir; Dahle, Dag Olav; Solberg, Olga; Sigurdardottir, Solrun.
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress. JIMD Reports 2021 ;Volum 62.(1) s. 56-69
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7 Sigurdardottir, Solrun; Bjerkely, Birgitte Leisner; Jenssen, Trond Geir; Mathisen, Per; von der Lippe, Charlotte; Ørstavik, Kristin; Heimdal, Ketil Riddervold; Dahle, Dag Olav; Weedon-Fekjær, Mina Susanne; Solberg, Olga; Pihlstrøm, Hege K..
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease. Orphanet Journal of Rare Diseases 2021 ;Volum 16:427. s. 1-11
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2020
8 Brede, Katrine Kjenstadbakk; Wandel, Margareta; Wiig, Ingrid; von der Lippe, Charlotte.
Primary Immunodeficiency Diseases and Gastrointestinal Distress: Coping Strategies and Dietary Experiences to Relieve Symptoms. Qualitative Health Research 2020 ;Volum 31.(2) s. 361-372
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9 Hansen Tillerås, Kristine; Kjølaas Hagen, Siri; Dramstad, Elisabeth; Feragen, Kristin Judith Billaud; von der Lippe, Charlotte.
Psychological reactions to predictive genetic testing for Huntington’s disease: A qualitative study. Journal of Genetic Counseling 2020 ;Volum 29.(6) s. 1093-1105
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10 Skjefstad, Kaja Konstanse; Solberg, Olga; Glosli, Heidi; von der Lippe, Charlotte; Feragen, Kristin Judith Billaud.
Life expectancy and cause of death in individuals with haemophilia A and B in Norway, 1986-2018. European Journal of Haematology 2020 ;Volum 105.(5) s. 608-615
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11 Tønne, Elin; Due-Tønnessen, Bernt Johan; Mero, Inger-Lise; Wiig, Ulrikke Straume; Kulseth, Mari Ann; Vigeland, Magnus Dehli; Sheng, Ying; Lippe, Charlotte von der; Tveten, Kristian; Meling, Torstein Ragnar; Helseth, Eirik; Heimdal, Ketil Riddervold.
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis. European Journal of Human Genetics 2020 ;Volum 00.(0) s. 1-10
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12 Zelihić, Deniz; Hjardemaal, Finn Rudolf; von der Lippe, Charlotte.
Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support. European Journal of Medical Genetics 2020 ;Volum 63.(4) s. -
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2019
13 Cogne, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R.; Sanders, Stephan J.; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S.; Blyth, Moira; Lehman, Anne; Berg, Jonathan; Li, Mindy H.; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T.; Humberson, Jennifer; Robak, Laurie; Scott, Daryl A.; Sutton, Vernon R.; Skraban, Cara M.; Johnston, Jennifer; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H.; Bongers, Ernie M.H.F.; Gilissen, Christian; Zarate, Yuri A.; Kvarnung, Malin; Lally, Kevin P.; Kulch, Peggy A.; Daniels, Brina; Hernández-Garcia, Andrés; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R.; Stray-Pedersen, Asbjørg; Tarpinian, Jennifer; Klee, Eric W.; Sapp, Julie C.; Zyskind, Jacob; Holla, Øystein Lunde; Bedoukain, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N.; Dewan, Tammie; Akdemir, Zeynep H. Coban; Telegrafi, Aida; Zackai, Elaine H.; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L.; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertand; Biesecker, Leslie G.; Lowenstein, Dan; Posey, Jennifer E.; Denommé-Pichon, Anne-Sophie; Férec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Séverine; Redon, Richard; Stessman, Holly A.F.; Nellaker, Christoffe; Yang, Yaping; Lupski, James R.; Goldstein, David B.; Eichler, Evan E.; Bolduc, Francois; Bézieau, Stéphane; Küry, Sébastien; Campeau, Philippe M..
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. American Journal of Human Genetics 2019 ;Volum 104.(3) s. 530-541
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2018
14 von der Lippe, Charlotte.
Not just a carrier – A qualitative study of psychosocial aspects of women's experiences of living with an X-linked disorder. Oslo: Faculty of Medicine, University of Oslo 2018 (ISBN 978-82-8377-323-1) 112 s.
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2017
15 Lippe, Charlotte von der; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim.
Treatment of hemophilia: A qualitative study of mothers’ perspectives. Pediatric Blood & Cancer 2017 ;Volum 64. s. 121-127
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16 Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn Ivar; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cécile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; Verloes, Alain; von der Lippe, Charlotte; Wakeling, Emma; Wilkie, Andrew O.M.; Wilson, Louise; Yuen, Amy; Low, Karen J.; Newbury-Ecob, Ruth A..
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European Journal of Human Genetics 2017 ;Volum 26. s. 64-74
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17 Ngcungcu, Thandiswa; Oti, Martin; Sitek, Jan Cezary; Haukanes, Bjørn Ivar; Linghu, Bolan; Bruccoleri, Robert; Stokowy, Tomasz; Oakeley, Edward J.; Yang, Fan; Zhu, Jiang; Sultan, Marc; Schalkwijk, Joost; van Vlijmen-Willems, Ivonne M.J.J.; HELLELAND, CHARLOTTE; Brunner, Han G.; Ersland, Kari Merete; Grayson, Wayne; Buechmann-Moller, Stine; Sundnes, Olav; Nirmala, Nanguneri; Morgan, Thomas M.; van Bokhoven, Hans; Steen, Vidar Martin; Hull, Peter R.; Szustakowski, Joseph; Staedtler, Frank; Zhou, Huiqing; Fiskerstrand, Torunn; Ramsay, Michele.
Duplicated enhancer region increases expression of CTSB and segregates with keratolytic winter erythema in South African and Norwegian families. American Journal of Human Genetics 2017 ;Volum 100.(5) s. 737-750
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18 von der Lippe, Charlotte; Diesen, Plata Sofie; Feragen, Kristin Judith Billaud.
Living with a rare disorder: a systematic review of the qualitative literature. Molecular Genetics & Genomic Medicine 2017 ;Volum 5.(6) s. 758-773
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19 von der Lippe, Charlotte; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim.
“It was a lot tougher than I thought it would be”: A qualitative study on the changing nature of being a hemophilia carrier. Journal of Genetic Counseling 2017 ;Volum 26.(6) s. 1324-1332
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2016
20 Lippe, Charlotte von der; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim.
Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study. Journal of Genetic Counseling 2016 ;Volum 25.(5) s. 1085-1092
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2014
21 Helleland, Charlotte; Roscher, Ingrid; Nordgarden, Hilde; Rustad, Cecilie; Larsen, Selma Mujezinovic; Mjøen, Even; Bratland, Åse.
Mann med stort hode, lærevansker og multiple basalcellekarsinomer. Tidsskrift for Den norske legeforening 2014 ;Volum 134.(11) s. 1151-1154
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2011
22 von der Lippe, Charlotte; Rustad, Cecilie; Heimdal, Ketil Riddervold; Rødningen, Olaug Kristin.
15q11.2 microdeletion - Seven new patients with delayed development and/or behavioural problems. European Journal of Medical Genetics 2011 ;Volum 54.(3) s. 357-360
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2009
23 Molven, Anders; Søvik, Oddmund; Lippe, Charlotte von der; Steine, Solrun; Njølstad, Pål Rasmus; Houge, Gunnar; Prescott, Trine E..
Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. Tidsskrift for Den norske legeforening 2009 ;Volum 129.(22) s. 2358-2361
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