Search Results - "Nesbitt, Isabel M."

PPIB Mutations Cause Severe Osteogenesis Imperfecta by van Dijk, Fleur S., Nesbitt, Isabel M., Zwikstra, Eline H., Nikkels, Peter G.J., Piersma, Sander R., Fratantoni, Silvina A., Jimenez, Connie R., Huizer, Margriet, Morsman, Alice C., Cobben, Jan M., van Roij, Mirjam H.H., Elting, Mariet W., Verbeke, Jonathan I.M.L., Wijnaendts, Liliane C.D., Shaw, Nick J., Högler, Wolfgang, McKeown, Carole, Sistermans, Erik A., Dalton, Ann, Meijers-Heijboer, Hanne, Pals, Gerard

“…Deficiency of cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1(P3H1) has been reported in autosomal-recessive lethal or severe osteogenesis…”
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CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis by VAN DIJK, Fleur S, NESBITT, Isabel M, TAN-SINDHUNATA, Gita Mb, VAN RIJN, Rick R, MEIJERS-HEIJBOER, Hanne, COBBEN, Jan M, PALS, Gerard, NIKKELS, Peter Gj, DALTON, Ann, BONGERS, Ernie Mhf, VAN DE KAMP, Jiddeke M, HILHORST-HOFSTEE, Yvonne, DEN HOLLANDER, Nicolette S, LACHMEIJER, Augusta Ma, MARCELIS, Carlo L

“…Autosomal recessive lethal and severe osteogenesis imperfecta (OI) is caused by the deficiency of cartilage-associated protein (CRTAP) and prolyl-3-hydroxylase…”
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Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings by van Dijk, Fleur S., Nikkels, Peter G.J., den Hollander, Nicolette S., Nesbitt, Isabel M., van Rijn, Rick R., Cobben, Jan M., Pals, Gerard

“…We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta…”
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CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis by Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, Van De Kamp, Jiddeke M, Hilhorst-hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marcelis, Carlo L, Tan-sindhunata, Gita M B, Van Rijn, Rick R, Meijers-heijboer, Hanne, Cobben, Jan M, Pals, Gerard

“…Autosomal recessive lethal and severe osteogenesis imperfecta (OI) is caused by the deficiency of cartilage-associated protein (CRTAP) and prolyl-3-hydroxylase…”
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Erratum: CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis by Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marcelis, Carlo L, Tan-Sindhunata, Gita M B, van Rijn, Rick R, Meijers-Heijboer, Hanne, Cobben, Jan M, Pals, Gerard

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