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Items: 1 to 20 of 135

1.

Non-invasive prenatal diagnosis of osteogenesis imperfecta.

Thompson EM.

Am J Med Genet. 1993 Jan 15;45(2):201-6. Review.

PMID:
8456803
2.

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.

PMID:
3516171
3.

Perinatal lethal osteogenesis imperfecta: radiologic and pathologic evaluation of seven prenatally diagnosed cases.

van der Harten HJ, Brons JT, Dijkstra PF, Meijer CJ, van Geijn HP, Arts NF, Niermeijer MF.

Pediatr Pathol. 1988;8(3):233-52.

PMID:
3050913
4.

COL1A1/2-Related Osteogenesis Imperfecta.

Steiner RD, Adsit J, Basel D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2005 Jan 28 [updated 2013 Feb 14].

5.

Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: a case of autosomal dominant transmission.

Phillips OP, Shulman LP, Altieri LA, Wilroy RS, Emerson DS, Dacus JV, Elias S.

Prenat Diagn. 1991 Sep;11(9):705-10.

PMID:
1788177
6.

Prenatal diagnosis of osteogenesis imperfecta type III.

Robinson LP, Worthen NJ, Lachman RS, Adomian GE, Rimoin DL.

Prenat Diagn. 1987;7(1):7-15.

PMID:
3547385
7.

Prenatal diagnosis of a severe deforming type of osteogenesis imperfecta.

Aylsworth AS, Seeds JW, Guilford WB, Burns CB, Washburn DB.

Am J Med Genet. 1984 Dec;19(4):707-14.

PMID:
6393765
8.

[Prenatal and neonatal diagnosis of osteogenesis imperfecta in obstetrical practice].

Leśniewicz R, Galicka A, Anchim T, Skotnicki M, Wołczyński S, Urban J.

Ginekol Pol. 2001 Jun;72(6):456-65. Polish.

PMID:
11526743
9.

Prenatal ultrasonographic diagnosis of osteogenesis imperfecta.

Brons JT, van der Harten HJ, Wladimiroff JW, van Geijn HP, Dijkstra PF, Exalto N, Reuss A, Niermeijer MF, Meijer CJ, Arts NF.

Am J Obstet Gynecol. 1988 Jul;159(1):176-81.

PMID:
3293447
10.

Prenatal diagnosis of osteogenesis imperfecta congenita by ultrasonography.

Chen FP, Chang LC.

J Formos Med Assoc. 1996 May;95(5):386-9.

PMID:
8688703
11.

Prenatal diagnosis of osteogenesis imperfecta type II.

Tongsong T, Wanapirak C, Siriangkul S.

Int J Gynaecol Obstet. 1998 Apr;61(1):33-8.

PMID:
9622170
12.

Simple ultrasonic diagnosis of osteogenesis imperfecta type II in early second trimester.

Ghosh A, Woo JS, Wan CW, Wong VC.

Prenat Diagn. 1984 May-Jun;4(3):235-40.

PMID:
6463030
13.

[Prenatal diagnose of abnormalities of fetal limb bone].

Song J, Wang X.

Zhonghua Fu Chan Ke Za Zhi. 2010 Oct;45(10):745-9. Chinese.

PMID:
21176554
14.

Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.

Thompson EM, Young ID, Hall CM, Pembrey ME.

J Med Genet. 1987 Jul;24(7):390-405.

15.

Diagnosis of fetal osteogenesis imperfecta by multidisciplinary assessment: a retrospective study of 10 cases.

Wu Q, Wang W, Cao L, Sun L, Xu Y, Zhong X.

Fetal Pediatr Pathol. 2015 Feb;34(1):57-64. doi: 10.3109/15513815.2014.962198. Epub 2014 Oct 7.

PMID:
25289482
16.

Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity.

Sillence DO, Barlow KK, Cole WG, Dietrich S, Garber AP, Rimoin DL.

Am J Med Genet. 1986 Mar;23(3):821-32.

PMID:
3953678
17.

[Osteogenesis imperfecta - diagnostic challenges].

Kovacheva K, Pandurski F, Simeonova M.

Akush Ginekol (Sofiia). 2001;40(3):41-5. Bulgarian.

PMID:
11785367
18.

Prenatal diagnosis of lethal osteogenesis imperfecta (OI) by ultrasonography.

Patel ZM, Shah HL, Madon PF, Ambani LM.

Prenat Diagn. 1983 Jul;3(3):261-3.

PMID:
6622409
19.

Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta.

Williams EM, Nicholls AC, Daw SC, Mitchell N, Levin LS, Green B, MacKenzie J, Evans DR, Chudleigh PA, Pope FM.

Clin Genet. 1989 Mar;35(3):181-90.

PMID:
2650933
20.

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.

PMID:
17764073

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