313 related articles for article (PubMed ID: 23499310)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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. PubMed ID: 25450603
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Hayat A; Hussain S; Bilal M; Kausar M; Almuzzaini B; Abbas S; Tanveer A; Khan A; Siddiqi S; Foo JN; Ahmad F; Khan F; Khan B; Anees M; Mäkitie O; Alfadhel M; Ahmad W; Umair M
Eur J Med Genet; 2020 Aug; 63(8):103954. PubMed ID: 32413570
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
Umair M; Alhaddad B; Rafique A; Jan A; Haack TB; Graf E; Ullah A; Ahmad F; Strom TM; Meitinger T; Ahmad W
Pediatr Res; 2017 Nov; 82(5):753-758. PubMed ID: 28665926
[TBL] [Abstract][Full Text] [Related]
12. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.
Tüysüz B; Elkanova L; Uludağ Alkaya D; Güleç Ç; Toksoy G; Güneş N; Yazan H; Bayhan AI; Yıldırım T; Yeşil G; Uyguner ZO
Bone; 2022 Feb; 155():116293. PubMed ID: 34902613
[TBL] [Abstract][Full Text] [Related]
13. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Kelley BP; Malfait F; Bonafe L; Baldridge D; Homan E; Symoens S; Willaert A; Elcioglu N; Van Maldergem L; Verellen-Dumoulin C; Gillerot Y; Napierala D; Krakow D; Beighton P; Superti-Furga A; De Paepe A; Lee B
J Bone Miner Res; 2011 Mar; 26(3):666-72. PubMed ID: 20839288
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.
Mehta P; Vishvkarma R; Gupta S; Chattopadhyay N; Rajender S
Mol Biol Rep; 2024 Mar; 51(1):449. PubMed ID: 38536562
[TBL] [Abstract][Full Text] [Related]
16. Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Mrosk J; Bhavani GS; Shah H; Hecht J; Krüger U; Shukla A; Kornak U; Girisha KM
Bone; 2018 May; 110():368-377. PubMed ID: 29499418
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Alanay Y; Avaygan H; Camacho N; Utine GE; Boduroglu K; Aktas D; Alikasifoglu M; Tuncbilek E; Orhan D; Bakar FT; Zabel B; Superti-Furga A; Bruckner-Tuderman L; Curry CJ; Pyott S; Byers PH; Eyre DR; Baldridge D; Lee B; Merrill AE; Davis EC; Cohn DH; Akarsu N; Krakow D
Am J Hum Genet; 2010 Apr; 86(4):551-9. PubMed ID: 20362275
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
