Publications by Charlotte von der Lippe
22 publications found
Original articles
Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia
Acta Ophthalmol (in press)
DOI 10.1111/aos.16615, PubMed 38131258
Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study
Health Psychol Behav Med, 11 (1), 2263534
DOI 10.1080/21642850.2023.2263534, PubMed 37811316
It's more than just lubrication of the skin: parents' experiences of caring for a child with ichthyosis
Health Psychol Behav Med, 10 (1), 335-356
DOI 10.1080/21642850.2022.2053685, PubMed 35402085
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
Orphanet J Rare Dis, 16 (1), 427
DOI 10.1186/s13023-021-02066-y, PubMed 34641933
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Am J Med Genet A, 188 (1), 272-282
DOI 10.1002/ajmg.a.62492, PubMed 34515416
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress
JIMD Rep, 62 (1), 56-69
DOI 10.1002/jmd2.12240, PubMed 34765399
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Eur J Hum Genet, 29 (6), 920-929
DOI 10.1038/s41431-020-00788-4, PubMed 33288889
Primary Immunodeficiency Diseases and Gastrointestinal Distress: Coping Strategies and Dietary Experiences to Relieve Symptoms
Qual Health Res, 31 (2), 361-372
DOI 10.1177/1049732320967908, PubMed 33146080
Life expectancy and cause of death in individuals with haemophilia A and B in Norway, 1986-2018
Eur J Haematol, 105 (5), 608-615
DOI 10.1111/ejh.13494, PubMed 32710483
Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study
J Genet Couns, 29 (6), 1093-1105
DOI 10.1002/jgc4.1245, PubMed 32162754
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Am J Hum Genet, 104 (3), 530-541
DOI 10.1016/j.ajhg.2019.01.010, PubMed 30827496
"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, 26 (6), 1324-1332
DOI 10.1007/s10897-017-0112-9, PubMed 28547664
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families
Am J Hum Genet, 100 (5), 737-750
DOI 10.1016/j.ajhg.2017.03.012, PubMed 28457472
Treatment of hemophilia: A qualitative study of mothers' perspectives
Pediatr Blood Cancer, 64 (1), 121-127
DOI 10.1002/pbc.26167, PubMed 27472376
Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study
J Genet Couns, 25 (5), 1085-92
DOI 10.1007/s10897-016-9941-1, PubMed 26948256
Man with macrocephaly, learning disability and multiple basal cell carcinomas
Tidsskr Nor Laegeforen, 134 (11), 1151-4
DOI 10.4045/tidsskr.13.0894, PubMed 24939783
15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems
Eur J Med Genet, 54 (3), 357-60
DOI 10.1016/j.ejmg.2010.12.008, PubMed 21187176
G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome
Amyotroph Lateral Scler, 11 (5), 478-80
DOI 10.3109/17482960903580315, PubMed 20192886
[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]
Tidsskr Nor Laegeforen, 129 (22), 2358-61
DOI 10.4045/tidsskr.09.0267, PubMed 19935936
Review articles
Children with a rare congenital genetic disorder: a systematic review of parent experiences
Orphanet J Rare Dis, 17 (1), 375
DOI 10.1186/s13023-022-02525-0, PubMed 36253830
Living with a rare disorder: a systematic review of the qualitative literature
Mol Genet Genomic Med, 5 (6), 758-773
DOI 10.1002/mgg3.315, PubMed 29178638
Other articles
Gene panel testing
Tidsskr. Nor. Laegeforen., 140 (3), 224-227