Glorieux FH - Search Results

1

Osteogenesis imperfecta, an ever-expanding conundrum.

Glorieux FH, Moffatt P. Glorieux FH, et al. J Bone Miner Res. 2013 Jul;28(7):1519-22. doi: 10.1002/jbmr.1982. J Bone Miner Res. 2013. PMID: 23696068 Free article. No abstract available.

2

Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI.

Rauch F, Husseini A, Roughley P, Glorieux FH, Moffatt P. Rauch F, et al. Among authors: glorieux fh. J Clin Endocrinol Metab. 2012 Aug;97(8):E1550-6. doi: 10.1210/jc.2012-1827. Epub 2012 Jun 5. J Clin Endocrinol Metab. 2012. PMID: 22669302

3

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM, Ramirez N, Fahiminiya S, Majewski J, Glorieux FH. Rauch F, et al. Among authors: glorieux fh. J Med Genet. 2013 Jan;50(1):21-4. doi: 10.1136/jmedgenet-2012-101307. J Med Genet. 2013. PMID: 23240094

4

Mutations in WNT1 are a cause of osteogenesis imperfecta.

Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F. Fahiminiya S, et al. Among authors: glorieux fh. J Med Genet. 2013 May;50(5):345-8. doi: 10.1136/jmedgenet-2013-101567. Epub 2013 Feb 23. J Med Genet. 2013. PMID: 23434763

5

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics.

Fahiminiya S, Majewski J, Al-Jallad H, Moffatt P, Mort J, Glorieux FH, Roschger P, Klaushofer K, Rauch F. Fahiminiya S, et al. Among authors: glorieux fh. J Bone Miner Res. 2014 Aug;29(8):1805-14. doi: 10.1002/jbmr.2208. J Bone Miner Res. 2014. PMID: 24616189 Free article.

6

Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations.

Palomo T, Al-Jallad H, Moffatt P, Glorieux FH, Lentle B, Roschger P, Klaushofer K, Rauch F. Palomo T, et al. Among authors: glorieux fh. Bone. 2014 Oct;67:63-70. doi: 10.1016/j.bone.2014.06.041. Epub 2014 Jul 8. Bone. 2014. PMID: 25010833

7

The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.

Al-Jallad H, Palomo T, Roughley P, Glorieux FH, McKee MD, Moffatt P, Rauch F. Al-Jallad H, et al. Among authors: glorieux fh. Bone. 2015 Jul;76:115-20. doi: 10.1016/j.bone.2015.04.008. Epub 2015 Apr 11. Bone. 2015. PMID: 25868797

8

Osteogenesis Imperfecta Type VI in Individuals from Northern Canada.

Ward L, Bardai G, Moffatt P, Al-Jallad H, Trejo P, Glorieux FH, Rauch F. Ward L, et al. Among authors: glorieux fh. Calcif Tissue Int. 2016 Jun;98(6):566-72. doi: 10.1007/s00223-016-0110-1. Epub 2016 Jan 27. Calcif Tissue Int. 2016. PMID: 26815784

9

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.

Bardai G, Moffatt P, Glorieux FH, Rauch F. Bardai G, et al. Among authors: glorieux fh. Osteoporos Int. 2016 Dec;27(12):3607-3613. doi: 10.1007/s00198-016-3709-1. Epub 2016 Aug 11. Osteoporos Int. 2016. PMID: 27509835

10

Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.

Bardai G, Ward LM, Trejo P, Moffatt P, Glorieux FH, Rauch F. Bardai G, et al. Among authors: glorieux fh. Osteoporos Int. 2017 Jul;28(7):2095-2101. doi: 10.1007/s00198-017-4031-2. Epub 2017 Apr 4. Osteoporos Int. 2017. PMID: 28378289

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