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Items: 1 to 20 of 122

1.

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.

Kausar M, Siddiqi S, Yaqoob M, Mansoor S, Makitie O, Mir A, Khor CC, Foo JN, Anees M.

J Biomed Sci. 2018 Nov 17;25(1):82. doi: 10.1186/s12929-018-0481-x.

2.

Reflection on the assessment and care of a child with osteogenesis imperfecta.

McDowell R, McKendry A, Smyth G, Cardwell P.

Nurs Child Young People. 2018 Nov 8;30(6):26-29. doi: 10.7748/ncyp.2018.e1121. Epub 2018 Oct 22.

PMID:
30375204
3.

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
4.

Collagen I Defect Corneal Profiles in Osteogenesis Imperfecta.

Magalhaes OA, Rohenkohl HC, de Souza LT, Schuler-Faccini L, Félix TM.

Cornea. 2018 Dec;37(12):1561-1565. doi: 10.1097/ICO.0000000000001764.

PMID:
30272615
5.

Cyclic bisphosphonate therapy reduces pain and improves physical functioning in children with osteogenesis imperfecta.

Garganta MD, Jaser SS, Lazow MA, Schoenecker JG, Cobry E, Hays SR, Simmons JH.

BMC Musculoskelet Disord. 2018 Sep 24;19(1):344. doi: 10.1186/s12891-018-2252-y.

6.

Sternal-Sparing Aortic Valve Replacement in a Patient with Osteogenesis Imperfecta: A Case Report.

Joshi P, Thakur S, Finn C, Sadlier P.

J Heart Valve Dis. 2017 Nov;26(6):744-746.

PMID:
30207130
7.

Unusual migration of a Kirschner wire in a patient with Osteogenesis Imperfecta: A case report.

Baghdadi T, Baghdadi S, Dastoureh K, Yaseen Khan FM.

Medicine (Baltimore). 2018 Aug;97(34):e11829. doi: 10.1097/MD.0000000000011829. Review.

8.

Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing.

Yin X, Du Y, Zhang H, Wang Z, Wang J, Fu X, Cui Y, Chen C, Liang J, Xuan Z, Zhang X.

J Hum Genet. 2018 Nov;63(11):1129-1137. doi: 10.1038/s10038-018-0489-9. Epub 2018 Aug 21.

PMID:
30131598
9.

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.

Gistelinck C, Kwon RY, Malfait F, Symoens S, Harris MP, Henke K, Hawkins MB, Fisher S, Sips P, Guillemyn B, Bek JW, Vermassen P, De Saffel H, Witten PE, Weis M, De Paepe A, Eyre DR, Willaert A, Coucke PJ.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8037-E8046. doi: 10.1073/pnas.1722200115. Epub 2018 Aug 6.

10.

Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta.

Makareeva E, Sun G, Mirigian LS, Mertz EL, Vera JC, Espinoza NA, Yang K, Chen D, Klein TE, Byers PH, Leikin S.

PLoS One. 2018 Jul 10;13(7):e0200264. doi: 10.1371/journal.pone.0200264. eCollection 2018.

11.

Longitudinal analysis of the audiological phenotype in osteogenesis imperfecta: a follow-up study.

Martens S, Dhooge IJM, Swinnen FKR.

J Laryngol Otol. 2018 Aug;132(8):703-710. doi: 10.1017/S0022215118000956. Epub 2018 Jun 18.

PMID:
29909786
12.

Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta.

Mohd Nawawi N, Selveindran NM, Rasat R, Chow YP, Abdul Latiff Z, Syed Zakaria SZ, Jamal R, Abdul Murad NA, Abd Aziz BB.

Clin Chim Acta. 2018 Sep;484:141-147. doi: 10.1016/j.cca.2018.05.048. Epub 2018 May 25.

PMID:
29807018
13.

Cyclic intravenous pamidronate in a very low-birthweight infant with osteogenesis imperfecta.

Eto S, Hada S, Fukuhara R, Nishimura G, Takagi M.

Pediatr Int. 2018 May;60(5):485-486. doi: 10.1111/ped.13535. Epub 2018 Apr 26. No abstract available.

PMID:
29700899
14.

Turning the backbone into an ankylosed concrete-like structure: Case report.

Kaissi AA, Chehida FB, Grill F, Ganger R, Kircher SG.

Medicine (Baltimore). 2018 Apr;97(15):e0278. doi: 10.1097/MD.0000000000010278.

15.

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
16.

Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation.

Kantaputra PN, Sirirungruangsarn Y, Intachai W, Ngamphiw C, Tongsima S, Dejkhamron P.

J Hum Genet. 2018 Jul;63(7):811-820. doi: 10.1038/s10038-018-0448-5. Epub 2018 Apr 10.

PMID:
29636545
17.

Gamma Knife Radiosurgery for Trigeminal Neuralgia Associated with Osteogenesis Imperfecta.

Iwai Y, Ishibashi K, Yamanaka K.

World Neurosurg. 2018 Jul;115:24-28. doi: 10.1016/j.wneu.2018.03.192. Epub 2018 Apr 5.

PMID:
29626679
18.

Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.

Folkestad L.

Dan Med J. 2018 Apr;65(4). pii: B5454. Review.

PMID:
29619932
19.

Successful anterior cruciate ligament reconstruction and meniscal repair in osteogenesis imperfecta.

Park JY, Cho TJ, Lee MC, Han HS.

Knee Surg Sports Traumatol Arthrosc. 2018 Aug;26(8):2297-2301. doi: 10.1007/s00167-018-4901-y. Epub 2018 Mar 20.

PMID:
29556892
20.

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.

Augusciak-Duma A, Witecka J, Sieron AL, Janeczko M, Pietrzyk JJ, Ochman K, Galicka A, Borszewska-Kornacka MK, Pilch J, Jakubowska-Pietkiewicz E.

Acta Biochim Pol. 2018;65(1):79-86. doi: 10.18388/abp.2017_1612. Epub 2018 Mar 15.

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