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Items: 1 to 20 of 159

1.

Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen.

Venturi G, Gandini A, Monti E, Dalle Carbonare L, Corradi M, Vincenzi M, Valenti MT, Valli M, Pelilli E, Boner A, Mottes M, Antoniazzi F.

J Bone Miner Res. 2012 Mar;27(3):723-8. doi: 10.1002/jbmr.1480.

2.

Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.

Cho SY, Ki CS, Sohn YB, Kim SJ, Maeng SH, Jin DK.

J Korean Med Sci. 2013 Jul;28(7):1107-10. doi: 10.3346/jkms.2013.28.7.1107. Epub 2013 Jul 3.

3.

A co-occurrence of osteogenesis imperfecta type VI and cystinosis.

Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L, Rauch F.

Am J Med Genet A. 2012 Jun;158A(6):1422-6. doi: 10.1002/ajmg.a.35319. Epub 2012 Apr 23.

PMID:
22528245
4.

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C.

Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25.

5.

The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.

Al-Jallad H, Palomo T, Roughley P, Glorieux FH, McKee MD, Moffatt P, Rauch F.

Bone. 2015 Jul;76:115-20. doi: 10.1016/j.bone.2015.04.008. Epub 2015 Apr 11.

PMID:
25868797
6.

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.

Farber CR, Reich A, Barnes AM, Becerra P, Rauch F, Cabral WA, Bae A, Quinlan A, Glorieux FH, Clemens TL, Marini JC.

J Bone Miner Res. 2014 Jun;29(6):1402-11.

7.

Mutations in SERPINF1 cause osteogenesis imperfecta type VI.

Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B.

J Bone Miner Res. 2011 Dec;26(12):2798-803. doi: 10.1002/jbmr.487.

8.

Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice.

Rajagopal A, Homan EP, Joeng KS, Suzuki M, Bertin T, Cela R, Munivez E, Dawson B, Jiang MM, Gannon F, Crawford S, Lee BH.

Mol Genet Metab. 2016 Mar;117(3):378-82. doi: 10.1016/j.ymgme.2015.11.015. Epub 2015 Dec 2.

9.

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR.

Eur J Med Genet. 2015 Jan;58(1):21-7. doi: 10.1016/j.ejmg.2014.10.001. Epub 2014 Oct 24.

PMID:
25450603
10.

Osteogenesis Imperfecta Type VI in Individuals from Northern Canada.

Ward L, Bardai G, Moffatt P, Al-Jallad H, Trejo P, Glorieux FH, Rauch F.

Calcif Tissue Int. 2016 Jun;98(6):566-72. doi: 10.1007/s00223-016-0110-1. Epub 2016 Jan 27.

PMID:
26815784
11.

Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI.

Rauch F, Husseini A, Roughley P, Glorieux FH, Moffatt P.

J Clin Endocrinol Metab. 2012 Aug;97(8):E1550-6. doi: 10.1210/jc.2012-1827. Epub 2012 Jun 5.

PMID:
22669302
12.
13.

[A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].

Wang Z, Xu DL, Chen Z, Hu JY, Yang Z, Wang LT.

Zhonghua Yi Xue Za Zhi. 2006 Jan 17;86(3):170-3. Chinese.

PMID:
16638323
14.

Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, Koo SK.

Hum Mutat. 2006 Jun;27(6):599.

PMID:
16705691
15.

A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.

Xia XY, Cui YX, Huang YF, Pan LJ, Yang B, Wang HY, Li XJ, Shi YC, Lu HY, Zhou YC.

Clin Chim Acta. 2008 Dec;398(1-2):148-51. doi: 10.1016/j.cca.2008.07.030. Epub 2008 Aug 5.

PMID:
18755172
16.

Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.

Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R.

J Bone Miner Res. 2002 Jan;17(1):30-8.

17.

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.

Marini JC, Reich A, Smith SM.

Curr Opin Pediatr. 2014 Aug;26(4):500-7. doi: 10.1097/MOP.0000000000000117. Review.

18.

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.

Gajko-Galicka A.

Acta Biochim Pol. 2002;49(2):433-41. Review.

19.

Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers.

Al-Jallad H, Palomo T, Moffatt P, Roughley P, Glorieux FH, Rauch F.

J Clin Endocrinol Metab. 2014 Nov;99(11):E2446-50. doi: 10.1210/jc.2014-2505. Epub 2014 Aug 15.

PMID:
25127091
20.

A mouse model for human osteogenesis imperfecta type VI.

Bogan R, Riddle RC, Li Z, Kumar S, Nandal A, Faugere MC, Boskey A, Crawford SE, Clemens TL.

J Bone Miner Res. 2013 Jul;28(7):1531-6. doi: 10.1002/jbmr.1892.

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