Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome

Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Ming-Huei Lin; Jun-Wei Su; Wayseen Wang

doi:10.1016/j.tjog.2012.04.019

Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2012.04.019 ◽

2012 ◽

Vol 51 (2) ◽

pp. 271-275 ◽

Cited By ~ 6

Author(s):

Chih-Ping Chen ◽

Shuan-Pei Lin ◽

Yi-Ning Su ◽

Schu-Rern Chern ◽

Ming-Huei Lin ◽

...

Keyword(s):

Genetic Counseling ◽

Osteogenesis Imperfecta ◽

Molecular Diagnosis ◽

Full Term ◽

Favorable Outcome ◽

Osteogenesis Imperfecta Type ◽

Type Iv

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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

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2013.01.022 ◽

2013 ◽

Vol 52 (1) ◽

pp. 152-153 ◽

Cited By ~ 1

Author(s):

Chih-Ping Chen ◽

Shuan-Pei Lin ◽

Yi-Ning Su ◽

Schu-Rern Chern ◽

Jun-Wei Su ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Osteogenesis Imperfecta ◽

Missense Mutation ◽

Favorable Outcome ◽

Osteogenesis Imperfecta Type ◽

Type Iv

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Osteogenesis Imperfecta Type IV

10.32388/v35d53 ◽

2020 ◽

Author(s):

Keyword(s):

Osteogenesis Imperfecta ◽

Osteogenesis Imperfecta Type ◽

Type Iv

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Enhanced Callus Formation After Six Weeks of Parathyroid Hormone Treatment in a Man with Multiple Pelvic Fractures and Osteogenesis Imperfecta Type IV

JBJS Case Connector ◽

10.2106/jbjs.cc.l.00042 ◽

2012 ◽

Vol 2 (4) ◽

pp. e74 ◽

Cited By ~ 2

Author(s):

Roland Kocijan ◽

Judith Haschka ◽

Christian Muschitz ◽

Angela Trubrich ◽

Janina Patsch ◽

...

Keyword(s):

Parathyroid Hormone ◽

Osteogenesis Imperfecta ◽

Callus Formation ◽

Hormone Treatment ◽

Pelvic Fractures ◽

Osteogenesis Imperfecta Type ◽

Type Iv

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Whole exome sequencing analysis identifies a missense variant in COL1A2 gene which causes osteogenesis imperfecta Type IV in a family from Saudi Arabia

Journal of Musculoskeletal Surgery and Research ◽

10.4103/jmsr.jmsr_26_17 ◽

2017 ◽

Vol 1 (2) ◽

pp. 33 ◽

Cited By ~ 1

Author(s):

Musharraf Jelani ◽

YaserM Alkhiary ◽

Anum Ramzan ◽

Muhammad Ilyas ◽

Ubaidullah Khan ◽

...

Keyword(s):

Saudi Arabia ◽

Osteogenesis Imperfecta ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Missense Variant ◽

Osteogenesis Imperfecta Type ◽

Sequencing Analysis ◽

Type Iv ◽

Whole Exome ◽

Col1a2 Gene

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Bone histomorphometric analysis in osteogenesis imperfecta type IV: Evidence for three discrete forms

Bone ◽

10.1016/s8756-3282(96)90777-2 ◽

1996 ◽

Vol 19 (3) ◽

pp. 142

Author(s):

F.H. Glorieux ◽

N.J. Bishop ◽

R. Travers

Keyword(s):

Osteogenesis Imperfecta ◽

Osteogenesis Imperfecta Type ◽

Histomorphometric Analysis ◽

Type Iv

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Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV

The Journal of Pathology ◽

10.1002/path.1030 ◽

2002 ◽

Vol 196 (2) ◽

pp. 235-237 ◽

Cited By ~ 9

Author(s):

Anna Galicka ◽

Slawomir Wolczynski ◽

Andrzej Gindzienski

Keyword(s):

Osteogenesis Imperfecta ◽

Comparative Studies ◽

Type I Collagen ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Type Iv

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Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen

Human Mutation ◽

10.1002/(sici)1098-1004(1998)11:5<395::aid-humu7>3.0.co;2-4 ◽

1998 ◽

Vol 11 (5) ◽

pp. 395-403 ◽

Cited By ~ 28

Author(s):

Adriana P. Sarafova ◽

Hyeon Choi ◽

Antonella Forlino ◽

Anna Gajko ◽

Wayne A. Cabral ◽

...

Keyword(s):

Osteogenesis Imperfecta ◽

Type I Collagen ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Electrophoretic Migration ◽

Type Iv

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Osteogenesis Imperfecta Type IV.

Annals of the New York Academy of Sciences ◽

10.1111/j.1749-6632.1990.tb17986.x ◽

1990 ◽

Vol 580 (1 Structure, Mo) ◽

pp. 546-548 ◽

Cited By ~ 8

Author(s):

RICHARD WENSTRUP ◽

ANNE SHRAGO ◽

CHARLOTTE PHILLIPS ◽

PETER BYERS ◽

DANIEL COHN

Keyword(s):

Osteogenesis Imperfecta ◽

Osteogenesis Imperfecta Type ◽

Type Iv

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Comparison of Nanoindentation Measurements Between Osteogenesis Imperfecta Type III and Type IV and Between Different Anatomic Locations (Femur/Tibia versus Iliac Crest)

Connective Tissue Research ◽

10.1080/03008200601090949 ◽

2007 ◽

Vol 48 (2) ◽

pp. 70-75 ◽

Cited By ~ 33

Author(s):

Zaifeng Fan ◽

Peter A. Smith ◽

Gerald F. Harris ◽

Frank Rauch ◽

Ruta Bajorunaite

Keyword(s):

Osteogenesis Imperfecta ◽

Iliac Crest ◽

Osteogenesis Imperfecta Type ◽

Type Iii ◽

Type Iv ◽

Anatomic Locations

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Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.

Journal of Clinical Investigation ◽

10.1172/jci112735 ◽

1986 ◽

Vol 78 (6) ◽

pp. 1449-1455 ◽

Cited By ~ 24

Author(s):

R J Wenstrup ◽

P Tsipouras ◽

P H Byers

Keyword(s):

Osteogenesis Imperfecta ◽

Genetic Linkage ◽

Type I Collagen ◽

Type I ◽

Osteogenesis Imperfecta Type ◽

Type Iv ◽

I Gene

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