Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 138

1.

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.

PMID:
22528245
2.

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.

PMID:
25868797
3.

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.

4.

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.

PMID:
22669302
5.

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.

6.

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.

7.

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.

8.

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.

9.

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.

PMID:
25127091
10.

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.

PMID:
25450603
11.

Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.

Wang JY, Liu Y, Song LJ, Lv F, Xu XJ, San A, Wang J, Yang HM, Yang ZY, Jiang Y, Wang O, Xia WB, Xing XP, Li M.

Calcif Tissue Int. 2016 Oct 28. [Epub ahead of print]

PMID:
27796462
12.

Analysis of CTNS gene transcripts in nephropathic cystinosis.

Taranta A, Wilmer MJ, van den Heuvel LP, Bencivenga P, Bellomo F, Levtchenko EN, Emma F.

Pediatr Nephrol. 2010 Jul;25(7):1263-7. doi: 10.1007/s00467-010-1502-5.

13.

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA.

Hum Mutat. 1999;14(6):454-8. Review.

PMID:
10571941
14.
15.

The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.

Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED.

Genome Res. 2000 Feb;10(2):165-73.

16.

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.

Kalatzis V, Cohen-Solal L, Cordier B, Frishberg Y, Kemper M, Nuutinen EM, Legrand E, Cochat P, Antignac C.

Hum Mutat. 2002 Dec;20(6):439-46.

PMID:
12442267
17.

Characterization of CTNS mutations in Arab patients with cystinosis.

Aldahmesh MA, Humeidan A, Almojalli HA, Khan AO, Rajab M, AL-Abbad AA, Meyer BF, Alkuraya FS.

Ophthalmic Genet. 2009 Dec;30(4):185-9. doi: 10.3109/13816810903200953.

PMID:
19852576
18.

CTNS mutations in African American patients with cystinosis.

Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA.

Mol Genet Metab. 2001 Nov;74(3):332-7.

PMID:
11708862
19.

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.

20.

Natural history of adolescent-onset cystinosis.

Midgley JP, El-Kares R, Mathieu F, Goodyer P.

Pediatr Nephrol. 2011 Aug;26(8):1335-7. doi: 10.1007/s00467-011-1904-z.

PMID:
21553323
Items per page

Supplemental Content

Support Center