J. Bone Miner. Res.

Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.

Zhou W, Ås J, Shore-Lorenti C, ..., Ebeling PR, Zillikens MC

J. Bone Miner. Res. 39 (9) 1315-1326 [2024-09-02; online 2024-08-10]

NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Batkovskyte D, McKenzie F, Taylan F, ..., Nishimura G, Grigelioniene G

J. Bone Miner. Res. 38 (5) 692-706 [2023-05-00; online 2023-03-27]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service]

SLC4A2 Deficiency Causes a New Type of Osteopetrosis.

Xue JY, Grigelioniene G, Wang Z, ..., Ikegawa S, Guo L

J. Bone Miner. Res. - (-) - [2021-10-20; online 2021-10-20]

Clinical Genomics Stockholm [Service]

Serum 25-hydroxyvitamin D is associated with fracture risk only during periods of seasonally high levels in women with a high body mass index.

Michaëlsson K, Byberg L, Svennblad B, ..., Baron JA, Melhus H

J. Bone Miner. Res. 36 (10) 1957-1966 [2021-10-00; online 2021-07-10]

Bioinformatics Support for Computational Resources [Service]

Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information.

Tham E, Grigelionis G, Hammarsjö A, Grigelioniene G

J. Bone Miner. Res. 33 (7) 1377-1378 [2018-07-00; online 2018-06-07]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service]

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.

Kämpe AJ, Costantini A, Levy-Shraga Y, ..., Grasemann C, Mäkitie O

J. Bone Miner. Res. - (-) - [2017-08-04; online 2017-08-04]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

Grigelioniene G, Nevalainen PI, Reyes M, ..., Mäkitie O, Jüppner H

J. Bone Miner. Res. 32 (4) 776-783 [2017-04-00; online 2017-02-24]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

Taylan F, Costantini A, Coles N, ..., Tüysüz B, Mäkitie O

J. Bone Miner. Res. 31 (8) 1577-1585 [2016-08-00; online 2016-03-19]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]