Hillevi Lindelof
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Explore the profile of Hillevi Lindelof including associated specialties, affiliations and a list of published articles.
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5
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23
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Recent Articles
1.
Gregersen P, Hammarsjo A, Graversen L, Brix N, Lindelof H, Jensen U, et al.
Clin Genet
. 2024 Sep;
107(1):78-82.
PMID: 39239663
The growth and development of the skeleton is regulated by bone morphogenetic proteins of which several are linked to genetic skeletal disorders. So far, no human skeletal malformations have been...
2.
Jacob P, Lindelof H, Rustad C, Sutton V, Moosa S, Udupa P, et al.
NPJ Genom Med
. 2023 Nov;
8(1):39.
PMID: 37993442
Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondylar and epimetaphyseal dysplasia affecting...
3.
Lindstrand A, Ek M, Kvarnung M, Anderlid B, Bjorck E, Carlsten J, et al.
Genet Med
. 2022 Sep;
24(11):2296-2307.
PMID: 36066546
Purpose: Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated with several different approaches in clinical genetic diagnostics. Methods: We compared the results from 3 diagnostic pipelines...
4.
Lindelof H, Horemuzova E, Voss U, Nordgren A, Grigelioniene G, Hammarsjo A
Front Endocrinol (Lausanne)
. 2022 Jun;
13:862908.
PMID: 35769074
Nail-patella syndrome (NPS, OMIM #161200) is a rare autosomal dominant disorder with symptoms from many different parts of the body, including nails, knees, elbows, pelvis, kidneys and eyes. It is...
5.
Zhao S, Zhang Y, Hallgrimsdottir S, Zuo Y, Li X, Batkovskyte D, et al.
NPJ Genom Med
. 2022 Feb;
7(1):11.
PMID: 35169139
Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and...