Anne-Marie Bisgaard
Overview
Explore the profile of Anne-Marie Bisgaard including associated specialties, affiliations and a list of published articles.
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37
Citations
721
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Recent Articles
1.
Aledo-Serrano A, Lewis-Smith D, Leonard H, Bayat A, Junaid M, Hagebeuk E, et al.
medRxiv
. 2025 Jan;
PMID: 39867409
Knowledge of the natural history of deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical...
2.
Gibellato E, Cianci P, Mariani M, Parma B, Huisman S, Smigiel R, et al.
Am J Med Genet A
. 2024 Feb;
194(7):e63577.
PMID: 38421079
SMC1A epilepsy syndrome or developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85, OMIM #301044) is an X-linked neurologic disorder associated with mutations of the SMC1A gene, which...
3.
Larsen J, Hansson H, Bisgaard A, Stahlhut M
J Appl Res Intellect Disabil
. 2024 Feb;
37(2):e13188.
PMID: 38369306
Background: Rett syndrome (RTT) causes multiple disabilities with a lifelong need for substantial care, placing a tremendous lifelong responsibility on the parents. Parenting an individual with RTT can therefore be...
4.
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report
Boysen K, Tumer Z, Bach-Holm D, Bisgaard A, Kessel L
Ophthalmic Genet
. 2024 Feb;
45(3):313-318.
PMID: 38299479
Background: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively....
5.
Peluso F, Caraffi S, Contro G, Valeri L, Napoli M, Carboni G, et al.
J Med Genet
. 2023 Aug;
60(12):1224-1234.
PMID: 37586838
Background: KBG syndrome is caused by haploinsufficiency of and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures....
6.
Bisgaard A, Wong K, Hojfeldt A, Larsen J, Schonewolf-Greulich B, Ronde G, et al.
Am J Med Genet A
. 2021 Jul;
185(12):3683-3693.
PMID: 34296518
Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course...
7.
Lisbjerg K, Andersen M, Bertelsen M, Brost A, Buchvald F, Jensen R, et al.
Ophthalmic Genet
. 2021 Apr;
42(4):464-473.
PMID: 33818269
Background: Oliver McFarlane syndrome is a rare syndrome. Clinical presentations include trichomegaly, chorioretinal degeneration, pituitary hormone deficits, and neurological manifestations. Genetic analysis has recently placed this syndrome within the group...
8.
Rodriguez-Palmero A, Boerrigter M, Gomez-Andres D, Aldinger K, Marcos-Alcalde I, Popp B, et al.
Genet Med
. 2021 Feb;
23(5):888-899.
PMID: 33597769
Purpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with...
9.
Krab L, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen J, Bisgaard A, et al.
Hum Genet
. 2020 Mar;
139(5):575-592.
PMID: 32193685
RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants...
10.
Stahlhut M, Downs J, Wong K, Bisgaard A, Nordmark E
Phys Ther
. 2019 Oct;
100(1):168-179.
PMID: 31584667
Background: Girls and women with Rett Syndrome (RTT) have low levels of daily physical activity and high levels of sedentary time. Reducing sedentary time and enhancing "uptime" activities, such as...