PMC Articles for MedGen (Select 342435) - PMC

Select item 99565791.

A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII

Piranit Nik Kantaputra, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C. Cox, James R. Ketudat Cairns

Genes (Basel) 2023 Feb; 14(2): 322. Published online 2023 Jan 26. doi: 10.3390/genes14020322

PMCID:: PMC9956579

Abstract Article PDF–21M

Select item 98521722.

Retrospective analyses of clinical features in 28 Chinese patients with type V osteogenesis imperfecta: new perspectives in an old issue

Zhijia Tan, Hiu Tung Shek, Zhongxin Dong, Lin Feng, Yapeng Zhou, Shijie Yin, Anmei Qiu, Lina Dong, Bo Gao, Peikai Chen, Michael Kai Tsun To

Osteoporos Int. 2023; 34(2): 369–377. Published online 2022 Dec 2. doi: 10.1007/s00198-022-06581-x

PMCID:: PMC9852172

Abstract Article PDF–1.9M

Select item 75225893.

Gigantic secondary pelvic chondrosarcomas treated with pelvic resection type I and III: A case report

Muhammad Wahyudi, Andrian Astoguno Bayu Prakurso

Int J Surg Case Rep. 2020; 75: 327–332. Published online 2020 Sep 17. doi: 10.1016/j.ijscr.2020.09.082

PMCID:: PMC7522589

Abstract Article PDF–2.4M

Select item 63206864.

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

Abstract Article PDF–714K

Select item 46257825.

Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta

Evelise Brizola, Edward McCarthy, Jay Robert Shapiro

Clin Cases Miner Bone Metab. 2015 May-Aug; 12(2): 202–206. Published online 2015 Oct 26. doi: 10.11138/ccmbm/2015.12.2.202

PMCID:: PMC4625782

Abstract Article PDF–232K

Select item 35435986.

Pulmonary hamartoma: Cytological study of a case and literature review

T Umashankar, Acharya K Devadas, G Ravichandra, Parasappa J Yaranal

J Cytol. 2012 Oct-Dec; 29(4): 261–263. doi: 10.4103/0970-9371.103948

PMCID:: PMC3543598

Abstract Article

Select item 25711527.

Hamartoma

Earl M. Kabnick, Steven Sobo, Leslie L. Alexander

J Natl Med Assoc. 1985 Jun; 77(6): 496, [497].

PMCID:: PMC2571152

Summary Page Browse PDF–1.2M

Select item 24383368.

Surgical treatment and outcome of pulmonary hamartoma: a retrospective study of 20-year experience

Wei Guo, Yun-Ping Zhao, Yao-Guang Jiang, Ru-Wen Wang, Zheng Ma

J Exp Clin Cancer Res. 2008; 27(1): 8. Published online 2008 May 31. doi: 10.1186/1756-9966-27-8

PMCID:: PMC2438336

Abstract Article PDF–386K

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