114 related articles for article (PubMed ID: 22795120)
1. Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II.
Chen CP; Su YN; Hung FY; Chern SR; Su JW; Wang W
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):312-4. PubMed ID: 22795120
[No Abstract] [Full Text] [Related]
2. Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II.
Chen CP; Su YN; Chang TY; Chern SR; Su JW; Wang W
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):308-11. PubMed ID: 22795119
[No Abstract] [Full Text] [Related]
3. Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium.
Chen CP; Su YN; Chang TY; Huang MC; Pan CH; Chern SR; Su JW; Wang W
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):315-8. PubMed ID: 22795121
[No Abstract] [Full Text] [Related]
4. Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father.
Chen CP; Su YN; Chang TY; Chern SR; Chen CY; Su JW; Wang W
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):276-9. PubMed ID: 22795108
[TBL] [Abstract][Full Text] [Related]
5. Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.
Aerts M; Van Holsbeke C; de Ravel T; Devlieger R
Prenat Diagn; 2006 Apr; 26(4):394. PubMed ID: 16566045
[No Abstract] [Full Text] [Related]
6. Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography.
Akizawa Y; Nishimura G; Hasegawa T; Takagi M; Kawamichi Y; Matsuda Y; Matsui H; Saito K
Congenit Anom (Kyoto); 2012 Dec; 52(4):203-6. PubMed ID: 23181495
[TBL] [Abstract][Full Text] [Related]
7. Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis.
Sanders RC; Greyson-Fleg RT; Hogge WA; Blakemore KJ; McGowan KD; Isbister S
J Ultrasound Med; 1994 Sep; 13(9):691-700. PubMed ID: 7933045
[TBL] [Abstract][Full Text] [Related]
8. Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene.
Usta A; Karademir D; Sen E; Yazici S; Adali E; Erdem E; Karacan M
Pan Afr Med J; 2017; 27():198. PubMed ID: 28904723
[TBL] [Abstract][Full Text] [Related]
9. Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome.
Chen CP; Lin SP; Su YN; Chern SR; Lin MH; Su JW; Wang W
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):271-5. PubMed ID: 22795107
[TBL] [Abstract][Full Text] [Related]
10. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
Pollitt R; McMahon R; Nunn J; Bamford R; Afifi A; Bishop N; Dalton A
Hum Mutat; 2006 Jul; 27(7):716. PubMed ID: 16786509
[TBL] [Abstract][Full Text] [Related]
11. Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester.
Hsieh CT; Yeh GP; Wu HH; Wu JL; Chou PH; Lin YM
J Clin Ultrasound; 2008 Feb; 36(2):119-22. PubMed ID: 17764073
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome.
Chen CP; Lin SP; Su YN; Chern SR; Su JW; Wang W
Taiwan J Obstet Gynecol; 2013 Mar; 52(1):152-3. PubMed ID: 23548243
[No Abstract] [Full Text] [Related]
13. An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.
Superti-Furga A; Raghunath M; Pistone FM; Romano C; Steinmann B
Connect Tissue Res; 1993; 29(1):31-40. PubMed ID: 8339544
[TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis of osteogenesis imperfecta type III.
Robinson LP; Worthen NJ; Lachman RS; Adomian GE; Rimoin DL
Prenat Diagn; 1987; 7(1):7-15. PubMed ID: 3547385
[TBL] [Abstract][Full Text] [Related]
15. Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.
Kataoka K; Ogura E; Hasegawa K; Inoue M; Seino Y; Morishima T; Tanaka H
Pediatr Int; 2007 Oct; 49(5):564-9. PubMed ID: 17875077
[TBL] [Abstract][Full Text] [Related]
16. Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.
Reuter MS; Schwabe GC; Ehlers C; Marschall C; Reis A; Thiel C; Graul-Neumann L
Eur J Med Genet; 2013 Dec; 56(12):669-73. PubMed ID: 24140640
[TBL] [Abstract][Full Text] [Related]
17. Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in
Peláez Chomba MS; Vásquez Gómez GR; Sullcahuaman Allende YC; Mendoza Fernández JC; Purizaca Rosillo ND; Zevallos A; Cruzate Cabrejos VL
F1000Res; 2023; 12():603. PubMed ID: 37829592
[TBL] [Abstract][Full Text] [Related]
18. [Prenatal diagnosis of osteogenesis imperfecta. Report of a case].
Giancotti A; Cioni M; Careri I; Longo G; Lucantoni V; Pachì A
Minerva Ginecol; 1999 Dec; 51(12):505-8. PubMed ID: 10767999
[TBL] [Abstract][Full Text] [Related]
19. Midtrimester diagnosis of severe deforming osteogenesis imperfecta with autosomal dominant inheritance.
Carpenter MW; Abuelo D; Neave C
Am J Perinatol; 1986 Apr; 3(2):80-3. PubMed ID: 3516171
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 18755172
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
