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Publications

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha Km, et al
Scientific reports 2017;7(1):15585-

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham E, Eklund Ea, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-robinson K, et al
European journal of human genetics : EJHG 2016;24(2):198-207

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Kuchinskaya E, Grigelioniene G, Hammarsjö A, Lee Hr, Högberg L, Grigelionis G, et al
Orphanet journal of rare diseases 2016;11():1-

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu
Hammarsjö A, Nordgren A, Lagerstedt-robinson K, Malmgren H, Nilsson D, Wedrén S, et al
American journal of medical genetics. Part A 2016;170A(1):266-9

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, et al
Clinical genetics 2015;87(5):496-8

GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment
Engman M, Varghese S, Lagerstedt Robinson K, Malmgren H, Hammarsjö A, Byström B, et al
PloS one 2013;8(12):e80114-

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, Schoumans J, et al
European journal of medical genetics 2010;53(2):61-5

Vitamin D induces the antimicrobial protein hCAP18 in human skin
Weber G, Heilborn Jd, Chamorro Jimenez Ci, Hammarsjo A, Törmä H, Stahle M
The Journal of investigative dermatology 2005;124(5):1080-2