Glorieux FH - Search Results

1

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, Marshall C; FORGE Canada Consortium; Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F. Moffatt P, et al. Among authors: glorieux fh. Am J Hum Genet. 2013 Feb 7;92(2):252-8. doi: 10.1016/j.ajhg.2012.12.001. Epub 2013 Jan 3. Am J Hum Genet. 2013. PMID: 23290074 Free PMC article.

2

Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.

Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bächinger HP, Moffatt P. Rauch F, et al. Am J Hum Genet. 2015 Mar 5;96(3):425-31. doi: 10.1016/j.ajhg.2014.12.027. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683117 Free PMC article.

3

A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.

Fahiminiya S, Al-Jallad H, Majewski J, Palomo T, Moffatt P, Roschger P, Klaushofer K, Glorieux FH, Rauch F. Fahiminiya S, et al. Among authors: glorieux fh. Hum Mol Genet. 2015 Jan 15;24(2):516-24. doi: 10.1093/hmg/ddu471. Epub 2014 Sep 11. Hum Mol Genet. 2015. PMID: 25214535

4

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME. Munns CF, et al. Am J Hum Genet. 2015 Jun 4;96(6):971-8. doi: 10.1016/j.ajhg.2015.04.017. Epub 2015 May 28. Am J Hum Genet. 2015. PMID: 26027496 Free PMC article.

5

Osteogenesis imperfecta, current and future medical treatment.

Rauch F, Glorieux FH. Rauch F, et al. Among authors: glorieux fh. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):31-7. doi: 10.1002/ajmg.c.30072. Am J Med Genet C Semin Med Genet. 2005. PMID: 16278881

6

Medical therapy of children with fibrous dysplasia.

Glorieux FH, Rauch F. Glorieux FH, et al. J Bone Miner Res. 2006 Dec;21 Suppl 2:P110-3. doi: 10.1359/jbmr.06s221. J Bone Miner Res. 2006. PMID: 17228998 Free article. Review. No abstract available.

7

Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2.

Faqeih E, Roughley P, Glorieux FH, Rauch F. Faqeih E, et al. Among authors: glorieux fh. Am J Med Genet A. 2009 Mar;149A(3):461-5. doi: 10.1002/ajmg.a.32653. Am J Med Genet A. 2009. PMID: 19208385

8

Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype.

Semler O, Cheung MS, Glorieux FH, Rauch F. Semler O, et al. Among authors: glorieux fh. Am J Med Genet A. 2010 Jul;152A(7):1681-7. doi: 10.1002/ajmg.a.33448. Am J Med Genet A. 2010. PMID: 20583157

9

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

10

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

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