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Best matches for fracture AND CRTAP:

Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta. Grafe I et al. Nat Med. (2014)

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Baldridge D et al. Hum Mutat. (2008)

CRTAP variants in early-onset osteoporosis and recurrent fractures. Costantini A et al. Am J Med Genet A. (2017)

Search results

Items: 1 to 20 of 22

1.

Osteogenesis imperfecta in Brazilian patients.

Trancozo M, Moraes MVD, Silva DA, Soares JAM, Barbirato C, Almeida MG, Santos LR, Rebouças MRGO, Akel AN Jr, Sipolatti V, Nunes VRR, Errera FIV, Aguena M, Passos-Bueno MR, Paula F.

Genet Mol Biol. 2019 Apr-Jun;42(2):344-350. doi: 10.1590/1678-4685-GMB-2018-0043. Epub 2019 Aug 15.

2.

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

Tauer JT, Abdullah S, Rauch F.

J Bone Miner Res. 2019 Feb;34(2):207-214. doi: 10.1002/jbmr.3617. Epub 2018 Nov 29.

PMID:
30357929
3.

Novel mutation in a family with WNT1-related osteoporosis.

Panigrahi I, Didel S, Kirpal H, Bellampalli R, Miyanath S, Mullapudi N, Rao S.

Eur J Med Genet. 2018 Jul;61(7):369-371. doi: 10.1016/j.ejmg.2018.01.017. Epub 2018 Feb 23.

PMID:
29481978
4.

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Essawi O, Symoens S, Fannana M, Darwish M, Farraj M, Willaert A, Essawi T, Callewaert B, De Paepe A, Malfait F, Coucke PJ.

Mol Genet Genomic Med. 2018 Jan;6(1):15-26. doi: 10.1002/mgg3.331. Epub 2017 Nov 18.

5.

Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow With Osteogenesis Imperfecta.

Quist EM, Doan R, Pool RR, Porter BF, Bannasch DL, Dindot SV.

J Hered. 2018 Mar 16;109(3):308-314. doi: 10.1093/jhered/esx074.

PMID:
29036614
6.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL.

Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan.

7.

Correlations Between Bone Mechanical Properties and Bone Composition Parameters in Mouse Models of Dominant and Recessive Osteogenesis Imperfecta and the Response to Anti-TGF-β Treatment.

Bi X, Grafe I, Ding H, Flores R, Munivez E, Jiang MM, Dawson B, Lee B, Ambrose CG.

J Bone Miner Res. 2017 Feb;32(2):347-359. doi: 10.1002/jbmr.2997. Epub 2016 Oct 20.

8.

Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI.

Seyedhassani SM, Hashemi-Gorji F, Yavari M, Harazi F, Yassaee VR.

Fetal Pediatr Pathol. 2016;35(5):353-358. Epub 2016 Jun 30.

PMID:
27362741
9.

Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta.

Grafe I, Alexander S, Yang T, Lietman C, Homan EP, Munivez E, Chen Y, Jiang MM, Bertin T, Dawson B, Asuncion F, Ke HZ, Ominsky MS, Lee B.

J Bone Miner Res. 2016 May;31(5):1030-40. doi: 10.1002/jbmr.2776. Epub 2016 Feb 12.

10.

Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.

Barbirato C, Trancozo M, Almeida MG, Almeida LS, Santos TO, Duarte JC, Rebouças MR, Sipolatti V, Nunes VR, Paula F.

Genet Mol Res. 2015 Dec 3;14(4):15848-58. doi: 10.4238/2015.December.1.36.

11.

CRTAP mutation in a patient with Cole-Carpenter syndrome.

Balasubramanian M, Pollitt RC, Chandler KE, Mughal MZ, Parker MJ, Dalton A, Arundel P, Offiah AC, Bishop NJ.

Am J Med Genet A. 2015 Mar;167A(3):587-91. doi: 10.1002/ajmg.a.36916. Epub 2015 Jan 21.

PMID:
25604815
12.

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F.

Gene. 2014 Jul 25;545(2):290-2. doi: 10.1016/j.gene.2014.05.028. Epub 2014 May 14.

PMID:
24835313
13.

Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta.

Grafe I, Yang T, Alexander S, Homan EP, Lietman C, Jiang MM, Bertin T, Munivez E, Chen Y, Dawson B, Ishikawa Y, Weis MA, Sampath TK, Ambrose C, Eyre D, Bächinger HP, Lee B.

Nat Med. 2014 Jun;20(6):670-5. doi: 10.1038/nm.3544. Epub 2014 May 4.

14.

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

Van Dijk FS, Sillence DO.

Am J Med Genet A. 2014 Jun;164A(6):1470-81. doi: 10.1002/ajmg.a.36545. Epub 2014 Apr 8. Review. Erratum in: Am J Med Genet A. 2015 May;167A(5):1178.

15.

Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.

Amor IM, Rauch F, Gruenwald K, Weis M, Eyre DR, Roughley P, Glorieux FH, Morello R.

Am J Med Genet A. 2011 Nov;155A(11):2865-70. doi: 10.1002/ajmg.a.34269. Epub 2011 Sep 30.

16.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G.

Eur J Hum Genet. 2012 Jan;20(1):11-9. doi: 10.1038/ejhg.2011.141. Epub 2011 Aug 10.

17.

Type 1 collagenopathy presenting with a Russell-Silver phenotype.

Parker MJ, Deshpande C, Rankin J, Wilson LC, Balasubramanian M, Hall CM, Wagner BE, Pollitt R, Dalton A, Bishop NJ.

Am J Med Genet A. 2011 Jun;155A(6):1414-8. doi: 10.1002/ajmg.a.33998. Epub 2011 May 12.

PMID:
21567925
18.

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.

Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR, Byers PH.

Am J Hum Genet. 2010 Mar 12;86(3):389-98. doi: 10.1016/j.ajhg.2010.01.034. Epub 2010 Feb 25.

19.

Osteogenesis imperfecta: questions and answers.

Shapiro JR, Sponsellor PD.

Curr Opin Pediatr. 2009 Dec;21(6):709-16. doi: 10.1097/MOP.0b013e328332c68f. Review.

PMID:
19907330
20.

CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII.

Fratzl-Zelman N, Morello R, Lee B, Rauch F, Glorieux FH, Misof BM, Klaushofer K, Roschger P.

Bone. 2010 Mar;46(3):820-6. doi: 10.1016/j.bone.2009.10.037. Epub 2009 Nov 4.

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