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Items: 1 to 20 of 100

1.

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Mäkitie O.

N Engl J Med. 2013 May 9;368(19):1809-16. doi: 10.1056/NEJMoa1215458.

2.

Mutations in WNT1 cause different forms of bone fragility.

Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B.

Am J Hum Genet. 2013 Apr 4;92(4):565-74. doi: 10.1016/j.ajhg.2013.02.010. Epub 2013 Mar 14.

3.

Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations.

Palomo T, Al-Jallad H, Moffatt P, Glorieux FH, Lentle B, Roschger P, Klaushofer K, Rauch F.

Bone. 2014 Oct;67:63-70. doi: 10.1016/j.bone.2014.06.041. Epub 2014 Jul 8.

PMID:
25010833
4.

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I, Nair S, Turner EH, Smith JD, Jarvik GP, Byers PH.

Am J Hum Genet. 2013 Apr 4;92(4):590-7. doi: 10.1016/j.ajhg.2013.02.009. Epub 2013 Mar 14.

5.

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.

Joeng KS, Lee YC, Jiang MM, Bertin TK, Chen Y, Abraham AM, Ding H, Bi X, Ambrose CG, Lee BH.

Hum Mol Genet. 2014 Aug 1;23(15):4035-42. doi: 10.1093/hmg/ddu117. Epub 2014 Mar 14.

6.

Mutations in WNT1 are a cause of osteogenesis imperfecta.

Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F.

J Med Genet. 2013 May;50(5):345-8. doi: 10.1136/jmedgenet-2013-101567. Epub 2013 Feb 23.

PMID:
23434763
7.

Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

Liu Y, Song L, Ma D, Lv F, Xu X, Wang J, Xia W, Jiang Y, Wang O, Song Y, Xing X, Asan, Li M.

Clin Chim Acta. 2016 Oct 1;461:172-80. doi: 10.1016/j.cca.2016.07.012. Epub 2016 Jul 20.

PMID:
27450065
8.

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
9.

Bone: Wnt--1-a key player in the regulation of human bone mass?

Wilson C.

Nat Rev Endocrinol. 2013 Jul;9(7):377. doi: 10.1038/nrendo.2013.105. Epub 2013 May 28. No abstract available.

PMID:
23712249
10.

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

Korvala J, Jüppner H, Mäkitie O, Sochett E, Schnabel D, Mora S, Bartels CF, Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, Männikkö M.

BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26.

11.

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype.

Faqeih E, Shaheen R, Alkuraya FS.

J Med Genet. 2013 Jul;50(7):491-2. doi: 10.1136/jmedgenet-2013-101750. Epub 2013 May 24. No abstract available.

PMID:
23709755
12.

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.

Mäkitie RE, Haanpää M, Valta H, Pekkinen M, Laine CM, Lehesjoki AE, Schalin-Jäntti C, Mäkitie O.

J Bone Miner Res. 2016 Sep;31(9):1734-42. doi: 10.1002/jbmr.2841. Epub 2016 Apr 25.

PMID:
27005318
13.

Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient.

Won JY, Jang WY, Lee HR, Park SY, Kim WY, Park JH, Kim Y, Cho TJ.

Eur J Med Genet. 2017 Aug;60(8):411-415. doi: 10.1016/j.ejmg.2017.05.002. Epub 2017 May 17.

PMID:
28528193
14.

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.

Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G, Byers PH.

Genet Med. 2011 Feb;13(2):125-30. doi: 10.1097/GIM.0b013e318202e0f6.

PMID:
21239989
15.

New Genetic Forms of Childhood-Onset Primary Osteoporosis.

Kämpe AJ, Mäkitie RE, Mäkitie O.

Horm Res Paediatr. 2015;84(6):361-9. doi: 10.1159/000439566. Epub 2015 Oct 31. Review.

PMID:
26517534
16.

Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

Hartikka H, Mäkitie O, Männikkö M, Doria AS, Daneman A, Cole WG, Ala-Kokko L, Sochett EB.

J Bone Miner Res. 2005 May;20(5):783-9. Epub 2005 Jan 4.

17.

Osteogenesis imperfecta. Review of the literature with presentation of 29 cases.

Shoenfeld Y.

Am J Dis Child. 1975 Jun;129(6):679-87. Review.

PMID:
1098447
18.

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.

Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Leikin S, Rotimi CN, Eyre DR, Raggio CL, Marini JC.

N Engl J Med. 2010 Feb 11;362(6):521-8. doi: 10.1056/NEJMoa0907705. Epub 2010 Jan 20.

19.

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.

Steinlein OK, Aichinger E, Trucks H, Sander T.

BMC Med Genet. 2011 Nov 22;12:152. doi: 10.1186/1471-2350-12-152.

20.

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, Martínez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL.

Am J Hum Genet. 2010 Jul 9;87(1):110-4. doi: 10.1016/j.ajhg.2010.05.016. Epub 2010 Jun 24.

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