Svetlana Vakkilainen MD, PhD Student

IMMUNODEFICIENCY IN CARTILAGE-HAIR HYPOPLASIA: CORRELATION WITH PULMONARY DISEASE, INFECTIONS AND MALIGNANCY

E-thesis service 

 

Jenni Rosendahl MD, PhD Student

VITAMIN D AND EXTRASKELETAL EFFECTS IN CHILDREN : STUDIES ON INFECTIONS, ALLERGIES AND INFLAMMATION

E-thesis service 

 

Riikka Mäkitie,  MD, PhD Student

SKELETAL AND EXTRA-SKELETAL CHARACTERISTICS OF WNT1 OSTEOPOROSIS

E-thesis service 

 

Ilkka Vuorimies  MD, PhD Student

BISPHOSPHONATE TREATMENT IN CHILDREN WITH OSTEOGENESIS IMPERFECTA

E-thesis service

 

 

 

 

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 JCI inSIGHT, article: 

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. JCIinSIGHT April 4, 2019. First e-published Feb 2019.  Minna Pekkinen,1,2 Paulien A. Terhal,3 Lorenzo D. Botto,4 Petra Henning,5 Riikka E. Mäkitie,1 Paul Roschger,6 Amrita Jain,7 Matthijs Kol,7 Matti A. Kjellberg,8 Eleftherios P. Paschalis,6 Koen van Gassen,9 Mary Murray,10 Pinar Bayrak-Toydemir,11 Maria K. Magnusson,12 Judith Jans,13 Mehran Kausar,1 John C. Carey,4 Pentti Somerharju,8 Ulf H. Lerner,5 Vesa M. Olkkonen,14 Klaus Klaushofer,6 Joost C.M. Holthuis,7,15 and Outi Mäkitie1,2,16

NEJM, article:

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfectaN Engl J Med. 2013 May 9; Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Mäkitie O.

JBMR, article:

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults. J Bone Miner Res. 2016 Sep;Epub 2016 Apr 25. Mäkitie RE, Haanpää M, Valta H, Pekkinen M, Laine CM, Lehesjoki AE, Schalin-Jäntti C, Mäkitie O.