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Items: 1 to 20 of 30

1.
Learning styles, academic achievement, and mental health problems among medical students in Thailand
Salilthip Paiboonsithiwong, Natchaya Kunanitthaworn, Natchaphon Songtrijuck, Nahathai Wongpakaran, Tinakon Wongpakaran
J Educ Eval Health Prof. 2016; 13: 38. Published online 2016 Oct 31. doi: 10.3352/jeehp.2016.13.38
PMCID:
PMC5121187
AbstractArticlePDF–316K
2.
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta
Binh Ho Duy, Lidiia Zhytnik, Katre Maasalu, Ivo Kändla, Ele Prans, Ene Reimann, Aare Märtson, Sulev Kõks
Hum Genomics. 2016; 10: 27. Published online 2016 Aug 12. doi: 10.1186/s40246-016-0083-1
PMCID:
PMC4983065
AbstractArticlePDF–671K
3.
Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.
G S Barsh, K E David, P H Byers
Proc Natl Acad Sci U S A. 1982 Jun; 79(12): 3838–3842. doi: 10.1073/pnas.79.12.3838
PMCID:
PMC346523
SummaryPage BrowsePDF–1.0M
4.
Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey.
P E Andersen, Jr, M Hauge
J Med Genet. 1989 Jan; 26(1): 37–44. doi: 10.1136/jmg.26.1.37
PMCID:
PMC1015534
SummaryPage BrowsePDF–1.8M
5.
The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.
A C Nicholls, G Osse, H G Schloon, H G Lenard, S Deak, J C Myers, D J Prockop, W R Weigel, P Fryer, F M Pope
J Med Genet. 1984 Aug; 21(4): 257–262. doi: 10.1136/jmg.21.4.257
PMCID:
PMC1049293
SummaryPage BrowsePDF–1.3M
6.
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.
B Steinmann, A Westerhausen, C D Constantinou, A Superti-Furga, D J Prockop
Biochem J. 1991 Nov 1; 279(Pt 3): 747–752. doi: 10.1042/bj2790747
PMCID:
PMC1151509
SummaryPage BrowsePDF–1.9M
7.
Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.
M C Willing, C J Pruchno, M Atkinson, P H Byers
Am J Hum Genet. 1992 Sep; 51(3): 508–515.
PMCID:
PMC1682712
SummaryPage BrowsePDF–1.5M
8.
A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta
Cord Drögemüller, Doreen Becker, Adrian Brunner, Bianca Haase, Patrick Kircher, Frank Seeliger, Michael Fehr, Ulrich Baumann, Kerstin Lindblad-Toh, Tosso Leeb
PLoS Genet. 2009 Jul; 5(7): e1000579. Published online 2009 Jul 24. doi: 10.1371/journal.pgen.1000579
PMCID:
PMC2708911
AbstractArticlePDF–602K
9.
Clinical and Radiological Manifestations of Osteogenesis Imperfecta Type V
Dong Yeon Lee, Tae-Joon Cho, In Ho Choi, Chin Youb Chung, Won Joon Yoo, Ji Hyung Kim, Yong Koo Park
J Korean Med Sci. 2006 Aug; 21(4): 709–714. Published online 2006 Aug 22. doi: 10.3346/jkms.2006.21.4.709
PMCID:
PMC2729895
AbstractArticlePDF–159K
10.
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
C M Laine, B D Chung, M Susic, T Prescott, O Semler, T Fiskerstrand, P D'Eufemia, M Castori, M Pekkinen, E Sochett, W G Cole, C Netzer, O Mäkitie
Eur J Hum Genet. 2011 Aug; 19(8): 875–881. Published online 2011 Mar 16. doi: 10.1038/ejhg.2011.42
PMCID:
PMC3172925
AbstractArticlePDF–478K
11.
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
Ulrike Schwarze, Tim Cundy, Shawna M. Pyott, Helena E. Christiansen, Madhuri R. Hegde, Ruud A. Bank, Gerard Pals, Arunkanth Ankala, Karen Conneely, Laurie Seaver, Suzanne M. Yandow, Ellen Raney, Dusica Babovic-Vuksanovic, Joan Stoler, Ziva Ben-Neriah, Reeval Segel, Sari Lieberman, Liesbeth Siderius, Aida Al-Aqeel, Mark Hannibal, Louanne Hudgins, Elizabeth McPherson, Michele Clemens, Michael D. Sussman, Robert D. Steiner, John Mahan, Rosemarie Smith, Kwame Anyane-Yeboa, Julia Wynn, Karen Chong, Tami Uster, Salim Aftimos, V. Reid Sutton, Elaine C. Davis, Lammy S. Kim, Mary Ann Weis, David Eyre, Peter H. Byers
Hum Mol Genet. 2013 Jan 1; 22(1): 1–17. Published online 2012 Sep 4. doi: 10.1093/hmg/dds371
PMCID:
PMC3606010
AbstractArticlePDF–684K
12.
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree
Caterina Marconi, Paolo Brunamonti Binello, Giovanni Badiali, Emanuela Caci, Roberto Cusano, Joseph Garibaldi, Tommaso Pippucci, Alberto Merlini, Claudio Marchetti, Kerry J Rhoden, Luis J V Galietta, Faustina Lalatta, Paolo Balbi, Marco Seri
Eur J Hum Genet. 2013 Jun; 21(6): 613–619. Published online 2012 Oct 10. doi: 10.1038/ejhg.2012.224
PMCID:
PMC3658193
AbstractArticlePDF–1.1M
13.
Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV
Jing Yuan, Song Li, YeYe Xu, Lin Cong
Med Sci Monit. 2015; 21: 964–969. Published online 2015 Apr 2. doi: 10.12659/MSM.892786
PMCID:
PMC4395019
AbstractArticlePDF–586K
14.
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities
Bernadette R Gochuico, Mahin Hossain, Sara K Talvacchio, Mei Xing G Zuo, Mark Barton, An Ngoc Dang Do, Joan C Marini
J Med Genet. Author manuscript; available in PMC 2024 Jun 5.
Published in final edited form as: J Med Genet. 2023 Nov; 60(11): 1067–1075. Published online 2023 May 16. doi: 10.1136/jmg-2022-109009
PMCID:
PMC11151334
AbstractArticlePDF–1.2M
15.
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families
Osama Essawi, Sofie Symoens, Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert, Tamer Essawi, Bert Callewaert, Anne De Paepe, Fransiska Malfait, Paul J. Coucke
Mol Genet Genomic Med. 2018 Jan; 6(1): 15–26. Published online 2017 Nov 18. doi: 10.1002/mgg3.331
PMCID:
PMC5823677
AbstractArticlePDF–431K
16.
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
J Bone Miner Res. Author manuscript; available in PMC 2018 Jul 4.
Published in final edited form as: J Bone Miner Res. 2018 Jul; 33(7): 1260–1271. Published online 2018 Apr 18. doi: 10.1002/jbmr.3424
PMCID:
PMC6031457
AbstractArticlePDF–1.3M
17.
Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo, Mariam Anees
J Biomed Sci. 2018; 25: 82. Published online 2018 Nov 17. doi: 10.1186/s12929-018-0481-x
Correction in:
J Biomed Sci. 2019; 26: 31.
PMCID:
PMC6240425
AbstractArticlePDF–2.4M
18.
Popcorn Calcification in Osteogenesis Imperfecta: Incidence, Progression, and Molecular Correlation
Abimbola A. Obafemi, Dorothy I. Bulas, James Troendle, Joan C. Marini
Am J Med Genet A. Author manuscript; available in PMC 2019 Jan 5.
Published in final edited form as: Am J Med Genet A. 2008 Nov 1; 146A(21): 2725–2732. doi: 10.1002/ajmg.a.32508
PMCID:
PMC6320686
AbstractArticlePDF–714K
19.
Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen
Lauren A. Barber, Craig Abbott, Vihang Nakhate, An N. Dang Do, Angela R. Blissett, Joan C. Marini
Genet Med. Author manuscript; available in PMC 2020 Oct 20.
Published in final edited form as: Genet Med. 2019 May; 21(5): 1233–1239. Published online 2018 Oct 1. doi: 10.1038/s41436-018-0307-y
PMCID:
PMC7573860
AbstractArticlePDF–1.2M
20.
Muscle-bone properties after prolonged voluntary wheel running in a mouse model of dominant severe osteogenesis imperfecta
Josephine T. Tauer, Gustavo Henrique Rigo Canevazzi, Justine Schiettekatte-Maltais, Frank Rauch, Raynald Bergeron, Louis-Nicolas Veilleux
J Musculoskelet Neuronal Interact. 2021; 21(4): 517–527.
PMCID:
PMC8672408
AbstractArticlePDF–808K

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