Search Results

Osteogenesis imperfecta type VII maps to the short arm of chromosome 3.

by M Labuda, J Morissette, L M Ward, F Rauch, L Lalic, P J Roughley, F H Glorieux
Published 2002

Osteogenesis imperfecta type VII: An autosomal recessive form of brittle bone disease.

by L M Ward, F Rauch, R Travers, G Chabot, E M Azouz, L Lalic, P J Roughley, F H Glorieux
Published 2002

Kuskokwim Disease extends recessive osteogenesis imperfecta type XI phenotypes caused by mutations in FKBP10

by Barnes⁎, A.M., Bale, S.J., Duncan, G., Paton, W., Cabral, W.A., Marini, J.C.
Published in Bone (2012)

New insights on the clinical variability of FKBP10 mutations

by Essawi, Osama, Tapaneeyaphan, Piyanoot, Symoens, Sofie, Gistelinck, Charlotte, Malfait, Fransiska, Eyre, David, Essawi, Tamer, Callewaert, Bert, Coucke, Paul
Published in European Journal of Medical Genetics (2020)

Zebrafish : a resourceful vertebrate model to investigate skeletal disorders

by Tonelli, Francesca, Bek, Jan Willem, Besio, Roberta, De Clercq, Adelbert, Leoni, Laura, Salmon, Phil, Coucke, Paul, Willaert, Andy, Forlino, Antonella
Published in Frontiers in Endocrinology (2020)

Two Rare Mutations in the COL1A2 Gene Associate with Low Bone Mineral Density and Fractures in Iceland

by Styrkarsdottir, U, Thorleifsson, G, Eiriksdottir, B, Gudjonsson, SA, Ingvarsson, T, Center, JR, Nguyen, TV, Eisman, JA, Christiansen, C, Thorsteinsdottir, U, Sigurdsson, G, Stefansson, K
Published 2016

Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland

by Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Eiriksdottir, Berglind, Gudjonsson, Sigurjon A, Ingvarsson, Thorvaldur, Center, Jacqueline R, Nguyen, Tuan V, Eisman, John A, Christiansen, Claus, Thorsteinsdottir, Unnur, Sigurdsson, Gunnar, Stefansson, Kari
Published in Journal of Bone and Mineral Research (2015)

Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland

by Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Eiriksdottir, Berglind, Gudjonsson, Sigurjon A, Ingvarsson, Thorvaldur, Center, Jacqueline R, Nguyen, Tuan V, Eisman, John A, Christiansen, Claus, Thorsteinsdottir, Unnur, Sigurdsson, Gunnar, Stefansson, Kari
Published in Journal of Bone and Mineral Research (2015)

Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.

by Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Eiriksdottir, Berglind, Gudjonsson, Sigurjon A, Ingvarsson, Thorvaldur, Center, Jacqueline R, Nguyen, Tuan V, Eisman, John A, Christiansen, Claus, Thorsteinsdottir, Unnur, Sigurdsson, Gunnar, Stefansson, Kari
Published in Journal of Bone and Mineral Research (2016)

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations

by Barnes, Aileen M., Duncan, Geraldine, Weis, MaryAnn, Paton, William, Cabral, Wayne A., Mertz, Edward L., Makareeva, Elena, Gambello, Michael J., Lacbawan, Felicitas L., Leikin, Sergey, Fertala, Andrzej, Eyre, David R., Bale, Sherri J., Marini, Joan C.
Published in Human Mutation (2013)

Evaluation of the effectiveness of next generation sequencing in the clinical practice of the medical genetic consultation in Khanty-Mansi region

by M. Yu. Donnikov, R. A. Illarionov, T. A. Izotova, L. N. Kolbasin, L. V. Kovalenko, М. Ю. Донников, Р. А. Илларионов, Т. А. Изотова, Л. Н. Колбасин, Л. В. Коваленко
Published in Nauchno-prakticheskii zhurnal «Medicinskaia genetika (2022)