Publications by authors named "Charlotte von der Lippe"

14Publications

Life expectancy and cause of death in individuals with haemophilia A and B in Norway, 1986-2018.

Eur J Haematol 2020 Jul 24. Epub 2020 Jul 24.

Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1111/ejh.13494DOI Listing
July 2020

Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study.

J Genet Couns 2020 Mar 12. Epub 2020 Mar 12.

Centre for Rare Disorders, Oslo University Hospital HF, Rikshospitalet, Oslo, Norway.

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http://dx.doi.org/10.1002/jgc4.1245DOI Listing
March 2020

Genpaneltesting.

Tidsskr Nor Laegeforen 2020 Feb 10;140(3). Epub 2020 Feb 10.

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http://dx.doi.org/10.4045/tidsskr.19.0535DOI Listing
February 2020

Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support.

Eur J Med Genet 2020 Apr 20;63(4):103856. Epub 2020 Jan 20.

Centre for Rare Disorders, Rikshospitalet, Oslo University Hospital HF, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103856DOI Listing
April 2020

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Living with a rare disorder: a systematic review of the qualitative literature.

Mol Genet Genomic Med 2017 11 23;5(6):758-773. Epub 2017 Jul 23.

Centre for Rare Disorders, Oslo University Hospital, Rikshospitalet, P.B. 4950 Nydalen, Oslo, 0424, Norway.

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http://dx.doi.org/10.1002/mgg3.315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702559PMC
November 2017

"It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier.

J Genet Couns 2017 Dec 26;26(6):1324-1332. Epub 2017 May 26.

Institute of Health and Society, University of Oslo, P.O. Box 1130, Blindern, 0318, Oslo, Norway.

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http://dx.doi.org/10.1007/s10897-017-0112-9DOI Listing
December 2017

Treatment of hemophilia: A qualitative study of mothers' perspectives.

Pediatr Blood Cancer 2017 01 29;64(1):121-127. Epub 2016 Jul 29.

Institute of Health and Society, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1002/pbc.26167DOI Listing
January 2017

Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.

J Genet Couns 2016 10 7;25(5):1085-92. Epub 2016 Mar 7.

Institute of Health and Society, University of Oslo, P.O. Box 1130, 0318, Blindern, Oslo, Norway.

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http://dx.doi.org/10.1007/s10897-016-9941-1DOI Listing
October 2016

Man with macrocephaly, learning disability and multiple basal cell carcinomas.

Tidsskr Nor Laegeforen 2014 Jun 17;134(11):1151-4. Epub 2014 Jun 17.

Avdeling for kreftbehandling Oslo universitetssykehus, Radiumhospitalet.

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http://dx.doi.org/10.4045/tidsskr.13.0894DOI Listing
June 2014

G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome.

Amyotroph Lateral Scler 2010 Oct;11(5):478-80

Department of Neurology, Oslo University Hospital Ullevål, Norway.

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http://dx.doi.org/10.3109/17482960903580315DOI Listing
October 2010

[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].

Tidsskr Nor Laegeforen 2009 Nov;129(22):2358-61

Gades institutt, Universitetet i Bergen og Avdeling for patologi Haukeland universitetssykehus 5021 Bergen, Norway.

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http://dx.doi.org/10.4045/tidsskr.09.0267DOI Listing
November 2009