Campeau PM - Search Results

1

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).

Whyte MP, Campeau PM, McAlister WH, Roodman GD, Kurihara N, Nenninger A, Duan S, Gottesman GS, Bijanki VN, Sedighi H, Veis DJ, Mumm S. Whyte MP, et al. Among authors: campeau pm. Bone. 2020 Aug;137:115364. doi: 10.1016/j.bone.2020.115364. Epub 2020 Apr 13. Bone. 2020. PMID: 32298837 Free PMC article.

2

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH. Campeau PM, et al. Hum Mol Genet. 2012 Nov 15;21(22):4904-9. doi: 10.1093/hmg/dds326. Epub 2012 Aug 8. Hum Mol Genet. 2012. PMID: 22875837 Free PMC article.

3

Genomic approaches to diagnose rare bone disorders.

Falardeau F, Camurri MV, Campeau PM. Falardeau F, et al. Among authors: campeau pm. Bone. 2017 Sep;102:5-14. doi: 10.1016/j.bone.2016.07.020. Epub 2016 Jul 26. Bone. 2017. PMID: 27474525 Review.

4

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Mäkitie O, Campeau PM. Costantini A, et al. Among authors: campeau pm. Bone. 2019 Apr;121:163-171. doi: 10.1016/j.bone.2018.12.020. Epub 2018 Dec 30. Bone. 2019. PMID: 30599297

5

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Mumm S, Gottesman GS, Wenkert D, Campeau PM, Nenninger A, Huskey M, Bijanki VN, Veis DJ, Barnes AM, Marini JC, Stolina M, Zhang F, McAlister WH, Whyte MP. Mumm S, et al. Among authors: campeau pm. Bone. 2020 Jan;130:115047. doi: 10.1016/j.bone.2019.115047. Epub 2019 Aug 28. Bone. 2020. PMID: 31472299 Free PMC article.

6

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.

Collins M, Miranda V, Rousseau J, Kratz LE, Campeau PM. Collins M, et al. Among authors: campeau pm. Bone. 2020 Dec;141:115601. doi: 10.1016/j.bone.2020.115601. Epub 2020 Aug 19. Bone. 2020. PMID: 32827848

7

A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia.

Champagne M, Olivier P, Glavas P, Cantin MA, Rauch F, Alos N, Campeau PM. Champagne M, et al. Among authors: campeau pm. Eur J Med Genet. 2020 Apr;63(4):103784. doi: 10.1016/j.ejmg.2019.103784. Epub 2019 Oct 9. Eur J Med Genet. 2020. PMID: 31605817

8

Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis.

Turin CG, Joeng KS, Kallish S, Raper A, Asher S, Campeau PM, Khan AN, Al Mukaddam M. Turin CG, et al. Among authors: campeau pm. Bone Rep. 2021 Aug 18;15:101118. doi: 10.1016/j.bonr.2021.101118. eCollection 2021 Dec. Bone Rep. 2021. PMID: 34458510 Free PMC article.

9

Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature.

Basalom S, Fiscaletti M, Miranda V, Huber C, Couture G, Drouin R, Monceau É, Wavrant S, Dubé J, Mäkitie O, Cormier-Daire V, Campeau PM. Basalom S, et al. Among authors: campeau pm. Bone Rep. 2021 Aug 25;15:101121. doi: 10.1016/j.bonr.2021.101121. eCollection 2021 Dec. Bone Rep. 2021. PMID: 34504906 Free PMC article.

10

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.

Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH. Shapiro JR, et al. Among authors: campeau pm. J Bone Miner Res. 2013 Jul;28(7):1523-30. doi: 10.1002/jbmr.1891. J Bone Miner Res. 2013. PMID: 23408678 Free PMC article. Clinical Trial.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

221 results

Search Page

Filters