PMC Links for Nucleotide (Select 167860098) - PMC

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Items: 17

Select item 66968961.

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients

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

Front Genet. 2019; 10: 722. Published online 2019 Aug 9. doi: 10.3389/fgene.2019.00722

PMCID:: PMC6696896

Abstract Article PDF–1.6M

Select item 65030112.

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

Mingyuan Wang, Yi Guo, Pengfei Rong, Hongbo Xu, Lina Gong, Hao Deng, Lamei Yuan

Mol Genet Genomic Med. 2019 May; 7(5): e619. Published online 2019 Mar 4. doi: 10.1002/mgg3.619

PMCID:: PMC6503011

Abstract Article PDF–677K

Select item 64656713.

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period

Ori Eyal, Michal Berkenstadt, Haike Reznik‐Wolf, Hana Poran, Tomer Ziv‐Baran, Lior Greenbaum, Hagit Yonath, Elon Pras

Mol Genet Genomic Med. 2019 Apr; 7(4): e00573. Published online 2019 Jan 28. doi: 10.1002/mgg3.573

PMCID:: PMC6465671

Abstract Article PDF–401K

Select item 64184484.

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 61241725.

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes

Corinne Collet, Agnès Ostertag, Manon Ricquebourg, Marine Delecourt, Giulia Tueur, Bertrand Isidor, Pascale Guillot, Elise Schaefer, Rose‐Marie Javier, Thomas Funck‐Brentano, Philippe Orcel, Jean‐Louis Laplanche, Martine Cohen‐Solal

JBMR Plus. 2018 Jan; 2(1): 12–21. Published online 2017 Nov 6. doi: 10.1002/jbm4.10020

PMCID:: PMC6124172

Abstract Article PDF–302K

Select item 55587036.

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 54289107.

Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study

Kristofer Andersson, Göran Dahllöf, Katarina Lindahl, Andreas Kindmark, Giedre Grigelioniene, Eva Åström, Barbro Malmgren

PLoS One. 2017; 12(5): e0176466. Published online 2017 May 12. doi: 10.1371/journal.pone.0176466

PMCID:: PMC5428910

Abstract Article PDF–6.3M

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 45496859.

Identification of gene mutation in patients with osteogenesis imperfect using high resolution melting analysis

Jianhai Wang, Xiuzhi Ren, Xue Bai, Tianke Zhang, Yi Wang, Keqiu Li, Guang Li

Sci Rep. 2015; 5: 13468. Published online 2015 Aug 26. doi: 10.1038/srep13468

PMCID:: PMC4549685

Abstract Article PDF–563K

Select item 441670810.

Correction: Development of a High-Throughput Resequencing Array for the Detection of Pathogenic Mutations in Osteogenesis Imperfecta

Yao Wang, Yazhou Cui, Xiaoyan Zhou, Jinxiang Han

PLoS One. 2015; 10(5): e0127254. Published online 2015 May 1. doi: 10.1371/journal.pone.0127254

Corrects:: PLoS One. 2015; 10(3): e0119553.

PMCID:: PMC4416708

Correction PDF–90K

Select item 441556111.

Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family

Xiran Wang, Yu Pei, Jingtao Dou, Juming Lu, Jian Li, Zhaohui Lv

Genet Mol Biol. 2015 Mar; 38(1): 1–7. Published online 2014 Mar 17. doi: 10.1590/S1415-475738120130336

PMCID:: PMC4415561

Abstract Article PDF–1.4M

Select item 351548712.

Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities

Shih-Kai Wang, Hui-Chen Chan, Igor Makovey, James P. Simmer, Jan C-C. Hu

PLoS One. 2012; 7(12): e51533. Published online 2012 Dec 5. doi: 10.1371/journal.pone.0051533

PMCID:: PMC3515487

Abstract Article PDF–909K

Select item 326766413.

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Freya KR Swinnen, Paul J Coucke, Anne M De Paepe, Sofie Symoens, Fransiska Malfait, Filomena V Gentile, Luca Sangiorgi, Patrizia D'Eufemia, Mauro Celli, Ton JTM Garretsen, Cor WRJ Cremers, Ingeborg JM Dhooge, Els MR De Leenheer

Orphanet J Rare Dis. 2011; 6: 88. Published online 2011 Dec 29. doi: 10.1186/1750-1172-6-88

PMCID:: PMC3267664

Abstract Article PDF–309K

Select item 323450914.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Fleur S van Dijk, Peter H Byers, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens, Erik A Sistermans, Gerard Pals

Eur J Hum Genet. 2012 Jan; 20(1): 11–19. Published online 2011 Aug 10. doi: 10.1038/ejhg.2011.141

PMCID:: PMC3234509

Abstract Article PDF–495K

Select item 319405915.

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta

Antonella Fuccio, Mariangela Iorio, Felice Amato, Ausilia Elce, Rosaria Ingino, Mirella Filocamo, Giuseppe Castaldo, Francesco Salvatore, Rossella Tomaiuolo

J Mol Diagn. 2011 Nov; 13(6): 648–656. doi: 10.1016/j.jmoldx.2011.06.006

PMCID:: PMC3194059

Abstract Article PDF–613K

Select item 310363116.

COL1 C-propeptide Cleavage Site Mutations Cause High Bone Mass Osteogenesis Imperfecta

Katarina Lindahl, Aileen M. Barnes, Nadja Fratzl-Zelman, Michael P. Whyte, Theresa E. Hefferan, Elena Makareeva, Marina Brusel, Michael J. Yaszemski, Carl-Johan Rubin, Andreas Kindmark, Paul Roschger, Klaus Klaushofer, William H. McAlister, Steven Mumm, Sergey Leikin, Efrat Kessler, Adele L. Boskey, Östen Ljunggren, Joan C. Marini

Hum Mutat. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Hum Mutat. 2011 Jun; 32(6): 598–609. Published online 2011 Apr 7. doi: 10.1002/humu.21475