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Select item 72704101.

Venoarterial Extracorporeal Membrane Oxygenation for Severe Neonatal Acute Respiratory Distress Syndrome in a Developing Country

Xiaoyang Hong, Zhe Zhao, Zhenqiu Liu, Change Liu, Jie Wang, Xueli Quan, Hui Wu, Qiong Ji, Jianwei Sun, Donglinag Cheng, Zhichun Feng, Yuan Shi

Front Pediatr. 2020; 8: 227. Published online 2020 May 28. doi: 10.3389/fped.2020.00227

PMCID:: PMC7270410

Abstract Article PDF–610K

Select item 33972762.

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Hyung-Goo Kim, Hyun-Taek Kim, Natalia T. Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E. Talkowski, Douglas Ruderfer, Ji-Hyun Lee, Caron Glotzbach, Kyungsoo Ha, Susanne Kjaergaard, Alex V. Levin, Bernd F. Romeike, Tjitske Kleefstra, Oliver Bartsch, Sarah H. Elsea, Ethylin Wang Jabs, Marcy E. MacDonald, David J. Harris, Bradley J. Quade, Hans-Hilger Ropers, Lisa G. Shaffer, Kerstin Kutsche, Lawrence C. Layman, Niels Tommerup, Vera M. Kalscheuer, Yang Shi, Cynthia C. Morton, Cheol-Hee Kim, James F. Gusella

Am J Hum Genet. 2012 Jul 13; 91(1): 56–72. doi: 10.1016/j.ajhg.2012.05.005

PMCID:: PMC3397276

Abstract Article PDF–1.5M

Select item 116297243.

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation

Samim Özen, Damla Gökşen, Ferda Evin, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Aysun Ata, Tahir Atik, Füsun Düzcan, Ferda Özkınay, Şükran Darcan, Özgür Çoğulu

J Clin Res Pediatr Endocrinol. 2024 Dec; 16(4): 431–442. Published online 2024 Dec 4. doi: 10.4274/jcrpe.galenos.2024.2022-12-8

PMCID:: PMC11629724

Abstract Article PDF–287K

Select item 64605614.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

Kohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, Tone Irene Nordtveit, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Toshimitsu Suzuki, Kazuhiro Yamakawa, Ingvild Aukrust, Gunnar Houge, Satomi Mitsuhashi, Atsushi Takata, Kazuhiro Iwama, Ahmed Alkanaq, Atsushi Fujita, Eri Imagawa, Takeshi Mizuguchi, Noriko Miyake, Satoko Miyatake, Naomichi Matsumoto

Eur J Hum Genet. 2019 Mar; 27(3): 378–383. Published online 2018 Nov 28. doi: 10.1038/s41431-018-0289-x

PMCID:: PMC6460561

Abstract Article PDF–779K

Select item 64184485.

De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta

Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson

Mol Genet Genomic Med. 2019 Mar; 7(3): e559. Published online 2019 Jan 24. doi: 10.1002/mgg3.559

PMCID:: PMC6418448

Abstract Article PDF–952K

Select item 63652776.

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system

Lu-Jiao Li, Fang Lyu, Yu-Wen Song, Ou Wang, Yan Jiang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li

Chin Med J (Engl) 2019 Jan 20; 132(2): 145–153. Published online 2019 Jan 7. doi: 10.1097/CM9.0000000000000013

PMCID:: PMC6365277

Abstract Article PDF–527K

Select item 57081527.

Transcriptome analysis revealed impaired cAMP responsiveness in PHF21A-deficient human cells

Robert S. Porter, Yumie Murata-Nakamura, Hajime Nagasu, Hyung-Goo Kim, Shigeki Iwase

Neuroscience. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Neuroscience. 2018 Feb 1; 370: 170–180. Published online 2017 May 29. doi: 10.1016/j.neuroscience.2017.05.031

PMCID:: PMC5708152

Abstract Article PDF–1.4M

Select item 47951068.

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 43109509.

The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses

Young Bae Sohn, Shin-Young Yim, Eun-Hae Cho, Ok-Hwa Kim

J Korean Med Sci. 2015 Feb; 30(2): 214–217. Published online 2015 Jan 21. doi: 10.3346/jkms.2015.30.2.214

PMCID:: PMC4310950

Abstract Article PDF–894K

Select item 419918910.

Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion

Bernd F.M. Romeike, Yiping Shen, Hiromi Koso Nishimoto, Cynthia C. Morton, Lawrence C. Layman, Hyung-Goo Kim

Clin Neuropathol. 2014 May-Jun; 33(3): 238–244. Published online 2014 May 5. doi: 10.5414/NP300691

PMCID:: PMC4199189

Abstract Article PDF–670K

Select item 412863211.

Gene Targeting of Mutant COL1A2 Alleles in Mesenchymal Stem Cells From Individuals With Osteogenesis Imperfecta

Joel R Chamberlain, David R Deyle, Ulrike Schwarze, Peirong Wang, Yi Li Hirata, Peter H Byers, David W Russell

Mol Ther. Author manuscript; available in PMC 2014 Aug 11.

Published in final edited form as: Mol Ther. 2008 Jan; 16(1): 187–193. Published online 2007 Oct 23. doi: 10.1038/sj.mt.6300339

PMCID:: PMC4128632

Abstract Article PDF–3.2M

Select item 675164812.

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

Select item 322039213.

Endoplasmic reticulum stress or mutation of an EF-hand Ca²⁺-binding domain directs the FKBP65 rotamase to an ERAD-based proteolysis

Lindsey A. Murphy, Emily A. Ramirez, Van T. Trinh, Alexander M. Herman, Valen C. Anderson, Jay L. Brewster

Cell Stress Chaperones. 2011 Nov; 16(6): 607–619. Published online 2011 Jul 15. doi: 10.1007/s12192-011-0270-x

PMCID:: PMC3220392

Abstract Article PDF–626K

Select item 267905714.

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

Peter Brooks, Charles Marcaillou, Maud Vanpeene, Jean-Paul Saraiva, Daniel Stockholm, Stephan Francke, Reyna Favis, Nadine Cohen, Francis Rousseau, Frédéric Tores, Pierre Lindenbaum, Jörg Hager, Anne Philippi

BMC Genet. 2009; 10: 16. Published online 2009 Mar 30. doi: 10.1186/1471-2156-10-16

PMCID:: PMC2679057

Abstract Article PDF–1.2M

Select item 267157515.

CRTAP AND LEPRE1 MUTATIONS IN RECESSIVE OSTEOGENESIS IMPERFECTA

Dustin Baldridge, Ulrike Schwarze, Roy Morello, Jennifer Lennington, Terry K. Bertin, James M. Pace, Melanie G. Pepin, MaryAnn Weis, David R. Eyre, Jennifer Walsh, Deborah Lambert, Andrew Green, Haynes Robinson, Melonie Michelson, Gunnar Houge, Carl Lindman, Judith Martin, Jewell Ward, Emmanuelle Lemyre, John J. Mitchell, Deborah Krakow, David L. Rimoin, Daniel H. Cohn, Peter H. Byers, Brendan Lee

Hum Mutat. Author manuscript; available in PMC 2009 Apr 21.

Published in final edited form as: Hum Mutat. 2008 Dec; 29(12): 1435–1442. doi: 10.1002/humu.20799