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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 108593233.

Bone fragility and osteoporosis in children and young adults

M. M. Formosa, M. A. Christou, O. Mäkitie

J Endocrinol Invest. 2024; 47(2): 285–298. Published online 2023 Sep 5. doi: 10.1007/s40618-023-02179-0

PMCID:: PMC10859323

Abstract Article PDF–1.2M

Select item 106533334.

Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta

Qiuyan Mai, Ruining Han, Yinlong Chen, Ke Shen, Shimin Wang, Qingliang Zheng

Front Endocrinol (Lausanne) 2023; 14: 1267252. Published online 2023 Nov 2. doi: 10.3389/fendo.2023.1267252

PMCID:: PMC10653333

Abstract Article PDF–7.4M

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 102036117.

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Yixiao Chen, Guoqing Li, Liangchen Wei, Jian Weng, Su Liu, Mingxi Gu, Pei Liu, Yuanchao Zhu, Ao Xiong, Hui Zeng, Fei Yu

Front Endocrinol (Lausanne) 2023; 14: 1164386. Published online 2023 May 9. doi: 10.3389/fendo.2023.1164386

PMCID:: PMC10203611

Abstract Article PDF–5.2M

Select item 95456378.

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 93296539.

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 927078710.

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family

Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu

BMC Med Genomics. 2022; 15: 154. Published online 2022 Jul 8. doi: 10.1186/s12920-022-01296-8

PMCID:: PMC9270787

Abstract Article PDF–2.8M

Select item 901331911.

Early-Onset Osteoporosis

Outi Mäkitie, M. Carola Zillikens

Calcif Tissue Int. 2022; 110(5): 546–561. Published online 2021 Jul 8. doi: 10.1007/s00223-021-00885-6

PMCID:: PMC9013319

Abstract Article PDF–888K

Select item 895017512.

Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant

Lidiia Zhytnik, Binh Ho Duy, Marelise Eekhoff, Lisanne Wisse, Gerard Pals, Ene Reimann, Sulev Kõks, Aare Märtson, Alessandra Maugeri, Katre Maasalu, Dimitra Micha

Genes (Basel) 2022 Mar; 13(3): 407. Published online 2022 Feb 24. doi: 10.3390/genes13030407

PMCID:: PMC8950175

Abstract Article PDF–1.9M

Select item 827832113.

Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study

Doaa Taqi, Hanan Moussa, Timothy Schwinghamer, Maxime Ducret, Didem Dagdeviren, Jean-Marc Retrouvey, Frank Rauch, Faleh Tamimi

Bone. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Bone. 2021 Jun; 147: 115917. Published online 2021 Mar 16. doi: 10.1016/j.bone.2021.115917

PMCID:: PMC8278321

Abstract Article PDF–1.7M

Select item 822285114.

Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

Yousuke Higuchi, Kosei Hasegawa, Natsuko Futagawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara

Mol Genet Genomic Med. 2021 Jun; 9(6): e1675. Published online 2021 May 3. doi: 10.1002/mgg3.1675

PMCID:: PMC8222851

Abstract Article PDF–1.0M

Select item 767503515.

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Fleur S. van Dijk, Oliver Semler, Julia Etich, Anna Köhler, Juan A. Jimenez-Estrada, Nathalie Bravenboer, Lauria Claeys, Elise Riesebos, Sejla Gegic, Sander R. Piersma, Connie R. Jimenez, Quinten Waisfisz, Carmen-Lisset Flores, Julian Nevado, Arjan J. Harsevoort, Guus J.M. Janus, Anton A.M. Franken, Astrid M. van der Sar, Hanne Meijers-Heijboer, Karen E. Heath, Pablo Lapunzina, Peter G.J. Nikkels, Gijs W.E. Santen, Julian Nüchel, Markus Plomann, Raimund Wagener, Mirko Rehberg, Heike Hoyer-Kuhn, Elisabeth M.W. Eekhoff, Gerard Pals, Matthias Mörgelin, Simon Newstead, Brian T. Wilson, Victor L. Ruiz-Perez, Alessandra Maugeri, Christian Netzer, Frank Zaucke, Dimitra Micha

Am J Hum Genet. 2020 Nov 5; 107(5): 989–999. Published online 2020 Oct 13. doi: 10.1016/j.ajhg.2020.09.009

PMCID:: PMC7675035

Abstract Article PDF–2.7M

Select item 761583616.

Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX

Debasish Kumar Ghosh, Prajna Udupa, Akshaykumar Nanaji Shrikondawar, Gandham SriLakshmi Bhavani, Hitesh Shah, Akash Ranjan, Katta M. Girisha

Matrix Biol. Author manuscript; available in PMC 2024 Apr 17.

Published in final edited form as: Matrix Biol. 2023 Jan 1; 115: 81–106. Published online 2022 Dec 14. doi: 10.1016/j.matbio.2022.12.001

PMCID:: PMC7615836

Abstract Article PDF–3.1M

Select item 754037417.

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 750248118.

Assessment of Longitudinal Bone Growth in Osteogenesis Imperfecta Using Metacarpophalangeal Pattern Profiles

Damian Rauch, Marie-Eve Robinson, Cristian Seiltgens, V. Reid Sutton, Brendan Lee, Francis Glorieux, Frank Rauch

Bone. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Bone. 2020 Nov; 140: 115547. Published online 2020 Jul 27. doi: 10.1016/j.bone.2020.115547

PMCID:: PMC7502481

Abstract Article PDF–319K

Select item 694581719.

Bruck Syndrome 2 Variant Lacking Congenital Contractures And Involving A Novel Compound Heterozygous PLOD2 Mutation

Steven Mumm, Gary S. Gottesman, Deborah Wenkert, Philippe M. Campeau, Angela Nenninger, Margaret Huskey, Vinieth N. Bijanki, Deborah J. Veis, Aileen M. Barnes, Joan C. Marini, Marina Stolina, Fan Zhang, William H. McAlister, Michael P. Whyte

Bone. Author manuscript; available in PMC 2021 Jan 1.

Published in final edited form as: Bone. 2020 Jan; 130: 115047. Published online 2019 Aug 28. doi: 10.1016/j.bone.2019.115047

PMCID:: PMC6945817

Abstract Article PDF–2.0M

Select item 675164820.

Individualized treatment with denosumab in children with osteogenesis imperfecta – follow up of a trial cohort

Heike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, Eckhard Schoenau, Oliver Semler

Orphanet J Rare Dis. 2019; 14: 219. Published online 2019 Sep 18. doi: 10.1186/s13023-019-1197-z

PMCID:: PMC6751648

Abstract Article PDF–1.3M

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