139 related articles for article (PubMed ID: 36396825)
1. Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.
Peris P; Monegal A; Mäkitie RE; Guañabens N; González-Roca E
Osteoporos Int; 2023 Feb; 34(2):405-411. PubMed ID: 36396825
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 25010833
[TBL] [Abstract][Full Text] [Related]
3. 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; 461():172-80. PubMed ID: 27450065
[TBL] [Abstract][Full Text] [Related]
4. Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.
Hu J; Lin X; Gao P; Zhang Q; Zhou B; Wang O; Jiang Y; Xia W; Xing X; Li M
J Clin Endocrinol Metab; 2023 Jun; 108(7):1776-1786. PubMed ID: 36595228
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 29481978
[TBL] [Abstract][Full Text] [Related]
6. 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; 25(1):82. PubMed ID: 30447692
[TBL] [Abstract][Full Text] [Related]
7. Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.
Nampoothiri S; Guillemyn B; Elcioglu N; Jagadeesh S; Yesodharan D; Suresh B; Turan S; Symoens S; Malfait F
Am J Med Genet A; 2019 Jun; 179(6):908-914. PubMed ID: 30896082
[TBL] [Abstract][Full Text] [Related]
8. 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; 23(15):4035-42. PubMed ID: 24634143
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 28528193
[TBL] [Abstract][Full Text] [Related]
10. 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; 92(4):565-74. PubMed ID: 23499309
[TBL] [Abstract][Full Text] [Related]
11. Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the
Campopiano MC; Fogli A; Michelucci A; Mazoni L; Longo A; Borsari S; Pardi E; Benelli E; Sardella C; Pierotti L; Dinoi E; Marcocci C; Cetani F
Front Endocrinol (Lausanne); 2022; 13():918682. PubMed ID: 36004351
[TBL] [Abstract][Full Text] [Related]
12. Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.
Lu Y; Ren X; Wang Y; Bardai G; Sturm M; Dai Y; Riess O; Zhang Y; Li H; Li T; Zhai N; Zhang J; Rauch F; Han J
Bone; 2018 Sep; 114():144-149. PubMed ID: 29935254
[TBL] [Abstract][Full Text] [Related]
13. 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; 368(19):1809-16. PubMed ID: 23656646
[TBL] [Abstract][Full Text] [Related]
14. Heterozygous WNT1 variant causing a variable bone phenotype.
Alhamdi S; Lee YC; Chowdhury S; Byers PH; Gottschalk M; Taft RJ; Joeng KS; Lee BH; Bird LM
Am J Med Genet A; 2018 Nov; 176(11):2419-2424. PubMed ID: 30246918
[TBL] [Abstract][Full Text] [Related]
15. 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; 92(4):590-7. PubMed ID: 23499310
[TBL] [Abstract][Full Text] [Related]
16. Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis.
Joeng KS; Lee YC; Lim J; Chen Y; Jiang MM; Munivez E; Ambrose C; Lee BH
J Clin Invest; 2017 Jun; 127(7):2678-2688. PubMed ID: 28628032
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 23434763
[TBL] [Abstract][Full Text] [Related]
18. Consanguineous-derived homozygous WNT1 mutation results in osteogenesis imperfect with congenital ptosis and exotropia.
Chen P; Chen J; Yang Z; Lu Y; Shen L; Zhou K; Ye S; Shen B
Mol Genet Genomic Med; 2020 Aug; 8(8):e1350. PubMed ID: 32529806
[TBL] [Abstract][Full Text] [Related]
19. The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.
Kuptanon C; Srichomthong C; Sangsin A; Kovitvanitcha D; Suphapeetiporn K; Shotelersuk V
BMC Med Genet; 2018 Jul; 19(1):117. PubMed ID: 30012084
[TBL] [Abstract][Full Text] [Related]
20. Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1.
Verdonk SJE; Storoni S; Zhytnik L; Zhong W; Pals G; van Royen BJ; Elting MW; Maugeri A; Eekhoff EMW; Micha D
Calcif Tissue Int; 2023 Aug; 113(2):186-194. PubMed ID: 37277619
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]