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Select item 111513341.

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

Abstract Article PDF–1.2M

Select item 109359182.

Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta

Yazhao Mei, Yunyi Jiang, Li Shen, Zheying Meng, Zhenlin Zhang, Hao Zhang

Orphanet J Rare Dis. 2024; 19: 116. Published online 2024 Mar 12. doi: 10.1186/s13023-024-03089-x

PMCID:: PMC10935918

Abstract Article PDF–1.2M

Select item 107074653.

Col1A-2 Mutation in Osteogenesis Imperfecta Mice Contributes to Long Bone Fragility by Modifying Cell-Matrix Organization

Grégoire André, Antoine Chretien, Antoine Demoulin, Mélanie Beersaerts, Pierre-Louis Docquier, Catherine Behets

Int J Mol Sci. 2023 Dec; 24(23): 17010. Published online 2023 Nov 30. doi: 10.3390/ijms242317010

PMCID:: PMC10707465

Abstract Article PDF–3.6M

Select item 106233114.

Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes

Francesco Paduano, Rita Fischetto, Biagio Moretti, Danila De Vito, Marco Tatullo

Front Endocrinol (Lausanne) 2023; 14: 1254695. Published online 2023 Oct 20. doi: 10.3389/fendo.2023.1254695

PMCID:: PMC10623311

Abstract Article PDF–1.8M

Select item 105566955.

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study

Kinga Sałacińska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokół, Elżbieta Jakubowska-Pietkiewicz, Izabela Michałus, Łukasz Kępczyński, Dominik Salachna, Nina Wieczorek-Cichecka, Małgorzata Piotrowicz, Tatiana Chilarska, Aleksander Jamsheer, Paweł Matusik, Małgorzata Wilk, Elżbieta Petriczko, Maria Giżewska, Iwona Stecewicz, Mieczysław Walczak, Magda Rybak-Krzyszkowska, Andrzej Lewiński, Agnieszka Gach

Front Endocrinol (Lausanne) 2023; 14: 1149982. Published online 2023 Sep 22. doi: 10.3389/fendo.2023.1149982

PMCID:: PMC10556695

Abstract Article PDF–395K

Select item 105102436.

Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients

Peikai Chen, Yapeng Zhou, Zhijia Tan, Yunzhi Lin, Daniel Li-Liang Lin, Jingwei Wu, Zeluan Li, Hiu Tung Shek, Jianbin Wu, Yong Hu, Feng Zhu, Danny Chan, Kenneth Man-Chee Cheung, Michael Kai-Tsun To

Orphanet J Rare Dis. 2023; 18: 295. Published online 2023 Sep 20. doi: 10.1186/s13023-023-02906-z

PMCID:: PMC10510243

Abstract Article PDF–1.1M

Select item 95456377.

Clinical and molecular features of patients with COL1‐related disorders: Implications for the wider spectrum and the risk of vascular complications

Ryojun Takeda, Tomomi Yamaguchi, Shujiro Hayashi, Shinichirou Sano, Hiroshi Kawame, Sachiko Kanki, Takeshi Taketani, Hidekane Yoshimura, Yukio Nakamura, Tomoki Kosho

Am J Med Genet A. 2022 Sep; 188(9): 2560–2575. Published online 2022 Jul 13. doi: 10.1002/ajmg.a.62887

PMCID:: PMC9545637

Abstract Article PDF–3.4M

Select item 93296538.

Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta

Yazhao Mei, Hao Zhang, Zhenlin Zhang

Front Endocrinol (Lausanne) 2022; 13: 935905. Published online 2022 Jul 14. doi: 10.3389/fendo.2022.935905

PMCID:: PMC9329653

Abstract Article PDF–1.7M

Select item 91255289.

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta

Nelimar Cruz-Centeno, Jean F. Saenz-Maisonet, Paola M. López-Dones, Alberto Santiago-Cornier, Victor N. Ortiz-Justiniano

Am J Case Rep. 2022; 23: e935526-1–e935526-4. Published online 2022 May 18. doi: 10.12659/AJCR.935526

PMCID:: PMC9125528

Abstract Article PDF–394K

Select item 887549110.

The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts

Vincent Maranda, Marie-Hélène Gaumond, Pierre Moffatt

Int J Mol Sci. 2022 Feb; 23(4): 2148. Published online 2022 Feb 15. doi: 10.3390/ijms23042148

PMCID:: PMC8875491

Abstract Article PDF–4.1M

Select item 754037411.

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Nicole Corsten‐Janssen, Katelijne Bouman, Janouk C. D. Diphoorn, Arjen J. Scheper, Rianne Kinds, Julia el Mecky, Hanna Breet, Joke B. G. M. Verheij, Ron Suijkerbuijk, Leonie K. Duin, Gwendolyn T. R. Manten, Irene M. van Langen, Rolf H. Sijmons, Birgit Sikkema‐Raddatz, Helga Westers, Cleo C. van Diemen

Prenat Diagn. 2020 Sep; 40(10): 1300–1309. Published online 2020 Jul 20. doi: 10.1002/pd.5781

PMCID:: PMC7540374

Abstract Article PDF–1.4M

Select item 708381612.

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta

Y. Ohata, S. Takeyari, Y. Nakano, T. Kitaoka, H. Nakayama, V. Bizaoui, K. Yamamoto, K. Miyata, K. Yamamoto, M. Fujiwara, T. Kubota, T. Michigami, K. Yamamoto, T. Yamamoto, N. Namba, K. Ebina, H. Yoshikawa, K. Ozono

Osteoporos Int. 2019; 30(11): 2333–2342. Published online 2019 Jul 29. doi: 10.1007/s00198-019-05076-6

Correction in:: Osteoporos Int. 2020; 31(6): 1185.

PMCID:: PMC7083816

Abstract Article PDF–405K

Select item 620803413.

Nucleotide excision repair is a predictor of early relapse in pediatric acute lymphoblastic leukemia

Omar M. Ibrahim, Homood M. As Sobeai, Stephen G. Grant, Jean J. Latimer

BMC Med Genomics. 2018; 11: 95. Published online 2018 Oct 30. doi: 10.1186/s12920-018-0422-2

PMCID:: PMC6208034

Abstract Article PDF–4.6M

Select item 555870314.

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients

Lidiia Zhytnik, Katre Maasalu, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson

Hum Genomics. 2017; 11: 19. Published online 2017 Aug 15. doi: 10.1186/s40246-017-0115-5

PMCID:: PMC5558703

Abstract Article PDF–820K

Select item 503076915.

‘Double Trouble’: Diagnostic Challenges in Duchenne Muscular Dystrophy in Patients with an Additional Hereditary Skeletal Dysplasia

Sandra Donkervoort, Alice Schindler, Carolina Tesi-Rocha, Allison Schreiber, Meganne E. Leach, Jahannaz Dastgir, Ying Hu, Ami Mankodi, Kathryn R. Wagner, Neil R. Friedman, Carsten G. Bönnemann

Neuromuscul Disord. Author manuscript; available in PMC 2016 Sep 21.

Published in final edited form as: Neuromuscul Disord. 2013 Dec; 23(12): 955–961. Published online 2013 Aug 11. doi: 10.1016/j.nmd.2013.08.003

PMCID:: PMC5030769

Abstract Article PDF–507K

Select item 498306516.

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

Abstract Article PDF–671K

Select item 491784217.

Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice

Kristóf Árvai, Péter Horváth, Bernadett Balla, Bálint Tobiás, Karina Kató, Gyöngyi Kirschner, Valéria Klujber, Péter Lakatos, János P. Kósa

Sci Rep. 2016; 6: 28417. Published online 2016 Jun 23. doi: 10.1038/srep28417

PMCID:: PMC4917842

Abstract Article PDF–284K

Select item 479510618.

Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

Katarina Lindahl, Eva Åström, Carl-Johan Rubin, Giedre Grigelioniene, Barbro Malmgren, Östen Ljunggren, Andreas Kindmark

Eur J Hum Genet. 2015 Aug; 23(8): 1042–1050. Published online 2015 May 6. doi: 10.1038/ejhg.2015.81

Correction in:: Eur J Hum Genet. 2015 Aug; 23(8): 1112.

PMCID:: PMC4795106

Abstract Article PDF–1000K

Select item 433300019.

A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation

Caressa D. Lietman, Ronit Marom, Elda Munivez, Terry K. Bertin, Ming-Ming Jiang, Yuqing Chen, Brian Dawson, MaryAnn Weis, David Eyre, Brendan Lee

J Bone Miner Res. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: J Bone Miner Res. 2015 Mar; 30(3): 498–507. doi: 10.1002/jbmr.2363

PMCID:: PMC4333000

Abstract Article PDF–1.2M

Select item 321424620.

Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI

Erica P Homan, Frank Rauch, Ingo Grafe, Caressa Lietman, Jennifer A Doll, Brian Dawson, Terry Bertin, Dobrawa Napierala, Roy Morello, Richard Gibbs, Lisa White, Rika Miki, Daniel H Cohn, Susan Crawford, Rose Travers, Francis H Glorieux, Brendan Lee

J Bone Miner Res. 2011 Dec; 26: 2798–2803. Published online 2011 Nov 21. doi: 10.1002/jbmr.487

PMCID:: PMC3214246

Abstract Article PDF–376K

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