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Items: 1 to 20 of 317

1.

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.

Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR; Members of the BBD Consortium.

Eur J Med Genet. 2018 Dec 26. pii: S1769-7212(18)30449-X. doi: 10.1016/j.ejmg.2018.12.011. [Epub ahead of print]

PMID:
30593885
2.

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia.

Kishnani PS, Rockman-Greenberg C, Rauch F, Tariq Bhatti M, Moseley S, Denker AE, Watsky E, Whyte MP.

Bone. 2018 Dec 18. pii: S8756-3282(18)30461-7. doi: 10.1016/j.bone.2018.12.011. [Epub ahead of print]

3.

Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study.

Najirad M, Ma MS, Rauch F, Sutton VR, Lee B, Retrouvey JM; Members of the BBD, Esfandiari S.

Orphanet J Rare Dis. 2018 Oct 25;13(1):187. doi: 10.1186/s13023-018-0935-y.

4.

Effect of Anti-TGF-β Treatment in a Mouse Model of Severe Osteogenesis Imperfecta.

Tauer JT, Abdullah S, Rauch F.

J Bone Miner Res. 2018 Oct 24. doi: 10.1002/jbmr.3617. [Epub ahead of print]

PMID:
30357929
5.

A Best Practice Initiative to Optimize Transfer of Young Adults With Osteogenesis Imperfecta From Child to Adult Healthcare Services.

Isabel Carrier J, Siedlikowski M, Chougui K, Plourde SA, Mercier C, Thevasagayam G, Lafrance MÉ, Wong T, Bilodeau C, Michalovic A, Thorstad K, Rauch F, Tsimicalis A.

Clin Nurse Spec. 2018 Nov/Dec;32(6):323-335. doi: 10.1097/NUR.0000000000000407. Review.

PMID:
30299335
6.

Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5.

Dagdeviren D, Tamimi F, Lee B, Sutton R, Rauch F, Retrouvey JM.

Am J Med Genet A. 2018 Oct 5. doi: 10.1002/ajmg.a.40383. [Epub ahead of print]

PMID:
30289614
7.

Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI.

Jin Z, Burrage LC, Jiang MM, Lee YC, Bertin T, Chen Y, Tran A, Gibbs RA, Jhangiani S, Sutton VR, Rauch F, Lee B, Jain M.

JBMR Plus. 2018 Apr 16;2(4):235-239. doi: 10.1002/jbm4.10044. eCollection 2018 Jul.

8.

Impact of Vertebral Fractures and Glucocorticoid Exposure on Height Deficits in Children During Treatment of Leukemia.

Ma J, Siminoski K, Alos N, Halton J, Ho J, Cummings EA, Shenouda N, Matzinger MA, Lentle B, Jaremko JL, Wilson B, Stephure D, Stein R, Sbrocchi AM, Rodd C, Lewis VA, Laverdière C, Israels S, Grant RM, Fernandez CV, Dix DB, Couch R, Cairney E, Barr R, Atkinson S, Abish S, Moher D, Rauch F, Ward LM; Canadian STOPP Consortium.

J Clin Endocrinol Metab. 2019 Feb 1;104(2):213-222. doi: 10.1210/jc.2018-01083.

PMID:
30247635
9.

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.

Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B; Members of the Brittle Bone Disorders Consortium, Rush ET, Nagamani SCS.

Clin Genet. 2018 Dec;94(6):502-511. doi: 10.1111/cge.13440. Epub 2018 Sep 24.

PMID:
30152014
10.

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.

Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR; , Members of the Brittle Bone Disorders Consortium*,, Nagamani SCS.

Genet Med. 2018 Jul 4. doi: 10.1038/s41436-018-0045-1. [Epub ahead of print]

11.

Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.

Lu Y, Ren X, Wang Y, Bardai G, Sturm M, Dai Y, Riess O, Zhang Y, Li H, Li T, Zhai N, Zhang J, Rauch F, Han J.

Bone. 2018 Sep;114:144-149. doi: 10.1016/j.bone.2018.06.018. Epub 2018 Jun 20.

PMID:
29935254
12.

Bone Morbidity and Recovery in Children With Acute Lymphoblastic Leukemia: Results of a Six-Year Prospective Cohort Study.

Ward LM, Ma J, Lang B, Ho J, Alos N, Matzinger MA, Shenouda N, Lentle B, Jaremko JL, Wilson B, Stephure D, Stein R, Sbrocchi AM, Rodd C, Lewis V, Israels S, Grant RM, Fernandez CV, Dix DB, Cummings EA, Couch R, Cairney E, Barr R, Abish S, Atkinson SA, Hay J, Rauch F, Moher D, Siminoski K, Halton J; Steroid-Associated Osteoporosis in the Pediatric Population (STOPP) Consortium.

J Bone Miner Res. 2018 Aug;33(8):1435-1443. doi: 10.1002/jbmr.3447. Epub 2018 May 22.

PMID:
29786884
13.

Pain and quality of life of children and adolescents with osteogenesis imperfecta over a bisphosphonate treatment cycle.

Tsimicalis A, Boitor M, Ferland CE, Rauch F, Le May S, Carrier JI, Ngheim T, Bilodeau C.

Eur J Pediatr. 2018 Jun;177(6):891-902. doi: 10.1007/s00431-018-3127-9. Epub 2018 Apr 11.

PMID:
29637375
14.

Anabolic Therapy for the Treatment of Osteoporosis in Childhood.

Ward LM, Rauch F.

Curr Osteoporos Rep. 2018 Jun;16(3):269-276. doi: 10.1007/s11914-018-0434-z. Review.

PMID:
29589203
15.

Vitamin D status and functional health outcomes in children aged 2-8 y: a 6-mo vitamin D randomized controlled trial.

Brett NR, Parks CA, Lavery P, Agellon S, Vanstone CA, Kaufmann M, Jones G, Maguire JL, Rauch F, Weiler HA.

Am J Clin Nutr. 2018 Mar 1;107(3):355-364. doi: 10.1093/ajcn/nqx062.

PMID:
29566192
16.

Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.

Lu Y, Wang Y, Rauch F, Li H, Zhang Y, Zhai N, Zhang J, Ren X, Han J.

Intractable Rare Dis Res. 2018 Feb;7(1):37-41. doi: 10.5582/irdr.2018.01010.

17.

Pulmonary and diaphragmatic pathology in collagen type I α1 mutant mice with osteogenesis imperfecta.

Baglole CJ, Liang F, Traboulsi H, Rico de Souza A, Giordano C, Tauer JT, Rauch F, Petrof BJ.

Pediatr Res. 2018 Jun;83(6):1165-1171. doi: 10.1038/pr.2018.36. Epub 2018 May 9.

PMID:
29538357
18.

Hypercalcemia and hypercalciuria during denosumab treatment in children with osteogenesis imperfecta type VI.

Trejo P, Rauch F, Ward L.

J Musculoskelet Neuronal Interact. 2018 Mar 1;18(1):76-80.

19.

Vitamin D nutritional status and bone turnover markers in childhood acute lymphoblastic leukemia survivors: A PETALE study.

Delvin E, Alos N, Rauch F, Marcil V, Morel S, Boisvert M, Lecours MA, Laverdière C, Sinnett D, Krajinovic M, Dubois J, Drouin S, Lefebvre G, Samoilenko M, Nyalendo C, Cavalier E, Levy E.

Clin Nutr. 2018 Feb 21. pii: S0261-5614(18)30069-4. doi: 10.1016/j.clnu.2018.02.006. [Epub ahead of print]

PMID:
29503055
20.

Genotype and malocclusion in patients with osteogenesis imperfecta.

Jabbour Z, Al-Khateeb A, Eimar H, Retrouvey JM, Rizkallah J, Glorieux FH, Rauch F, Tamimi F.

Orthod Craniofac Res. 2018 May;21(2):71-77. doi: 10.1111/ocr.12218. Epub 2018 Feb 1.

PMID:
29388328

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