Tina Duelund Hjortshoj
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Explore the profile of Tina Duelund Hjortshoj including associated specialties, affiliations and a list of published articles.
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27
Citations
244
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Recent Articles
11.
Hey C, Larsen L, Tumer Z, Brondum-Nielsen K, Gronskov K, Duelund Hjortshoj T, et al.
Stem Cell Res
. 2019 Nov;
41:101594.
PMID: 31760295
Bardet-Biedl syndrome (BBS), an autosomal recessive disease, is associated with non-functional primary cilia. BBS5 is part of the protein complex termed the BBSome. The BBSome associates with intra flagellar transport...
12.
Al-Saudi N, Duelund Hjortshoj T, Nielsen H, Jorgensen F
Ugeskr Laeger
. 2019 Sep;
181(38).
PMID: 31538580
This is a case report of a 36-year-old woman with un-explained recurrent pregnancy loss, and during her recent pregnancy there were signs of hydrops foetalis. Chorionic villus sampling with array-comparative...
13.
Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, et al.
PLoS Genet
. 2018 Nov;
14(11):e1007780.
PMID: 30419018
Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases might need further investigations by massive parallel whole genome...
14.
Hey C, Saltokowa K, Larsen L, Tumer Z, Brondum-Nielsen K, Gronskov K, et al.
Stem Cell Res
. 2018 Oct;
33:46-50.
PMID: 30312873
Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the...
15.
Verheije R, Kupchik G, Isidor B, Kroes H, Lynch S, Hawkes L, et al.
Eur J Hum Genet
. 2018 Oct;
27(2):278-290.
PMID: 30291340
Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants...
16.
Hey C, Saltokowa K, Larsen L, Tumer Z, Brondum-Nielsen K, Gronskov K, et al.
Stem Cell Res
. 2018 Aug;
31:235-239.
PMID: 30142598
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the...
17.
Torring P, Larsen M, Brasch-Andersen C, Krogh L, Kibaek M, Laulund L, et al.
Eur J Med Genet
. 2018 Jul;
62(2):129-136.
PMID: 29959045
Introduction: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the literature for...
18.
Wolfe K, McQuillin A, Alesi V, Boudry Labis E, Cutajar P, Dallapiccola B, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2018 Apr;
177(4):397-405.
PMID: 29603867
Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals with 2q13 copy number...
19.
Bayat A, Moller L, Duelund Hjortshoj T
Ugeskr Laeger
. 2018 Mar;
180(11).
PMID: 29530238
KBG syndrome is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement including global developmental delay, seizures, and...
20.
Ivanovski I, Djuric O, Caraffi S, Santodirocco D, Pollazzon M, Rosato S, et al.
Genet Med
. 2018 Jan;
20(9):965-975.
PMID: 29300384
Purpose: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability...