PMC Articles for MedGen (Select 330763) - PMC

Sanchita Bhattacharya, Jian Li, Alexandra Sockell, Matthew J. Kan, Felice A. Bava, Shann-Ching Chen, María C. Ávila-Arcos, Xuhuai Ji, Emery Smith, Narges B. Asadi, Ralph S. Lachman, Hugo Y.K. Lam, Carlos D. Bustamante, Atul J. Butte, Garry P. Nolan

Genome Res. 2018 Apr; 28(4): 423–431. doi: 10.1101/gr.223693.117

PMCID:: PMC5880234

Abstract Article PDF–1.4M

Select item 44677294.

Isolated Skeletal Malformations in a Child With a Small Mosaic Ring Microduplication of 18 p11.21q11.2: Genotype–Phenotype Correlations

Thomas P. Slavin, Kevin Kuruvilla, Christine A. Curtis, Laurie A. Christ, Anna L. Mitchell

Am J Med Genet A. Author manuscript; available in PMC 2015 Jun 15.

Published in final edited form as: Am J Med Genet A. 2011 Mar; 0(3): 618–621. Published online 2011 Feb 22. doi: 10.1002/ajmg.a.33816

PMCID:: PMC4467729

Abstract Article PDF–154K

Select item 10492135.

Spondylocostal dysostosis.

I D Young, J R Moore

J Med Genet. 1984 Feb; 21(1): 68–69. doi: 10.1136/jmg.21.1.68

PMCID:: PMC1049213

Summary Page Browse PDF–469K

Select item 43199166.

Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

Cali E. Willet, Mariano Makara, George Reppas, George Tsoukalas, Richard Malik, Bianca Haase, Claire M. Wade

PLoS One. 2015; 10(2): e0117055. Published online 2015 Feb 6. doi: 10.1371/journal.pone.0117055

PMCID:: PMC4319916

Abstract Article PDF–4.9M

Select item 86836187.

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

Frederik Braun, Andrea Gangfuß, Petra Stöbe, Tobias B. Haack, Bernd Schweiger, Andreas Roos, Ulrike Schara

Mol Genet Genomic Med. 2021 Dec; 9(12): e1767. Published online 2021 Jul 20. doi: 10.1002/mgg3.1767

PMCID:: PMC8683618

Abstract Article PDF–899K

Select item 17354758.

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

P Turnpenny, N Whittock, J Duncan, S Dunwoodie, K Kusumi, S Ellard

J Med Genet. 2003 May; 40(5): 333–339. doi: 10.1136/jmg.40.5.333

PMCID:: PMC1735475

Summary PDF–240K

Select item 60351649.

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies

Silvio Alessandro Di Gioia, Sherin Shaaban, Beyhan Tüysüz, Nursel H. Elcioglu, Wai-Man Chan, Caroline D. Robson, Kirsten Ecklund, Nicole M. Gilette, Azmi Hamzaoglu, Gulsen Akay Tayfun, Elias I. Traboulsi, Elizabeth C. Engle

Am J Hum Genet. 2018 Jul 5; 103(1): 115–124. Published online 2018 Jun 7. doi: 10.1016/j.ajhg.2018.05.003

PMCID:: PMC6035164

Abstract Article PDF–2.0M

Select item 105070810.

Gorlin syndrome associated with midline nasal dermoid cyst.

E K Pivnick, A W Walter, M D Lawrence, M E Smith

J Med Genet. 1996 Aug; 33(8): 704–706. doi: 10.1136/jmg.33.8.704

PMCID:: PMC1050708

Summary Page Browse PDF–798K

Select item 101592911.

The orocraniodigital syndrome of Juberg and Hayward.

A Verloes, M Le Merrer, J C Davin, P Wittamer, C Abrassart, G Bricteux, M L Briard

J Med Genet. 1992 Apr; 29(4): 262–265. doi: 10.1136/jmg.29.4.262

PMCID:: PMC1015929

Summary Page Browse PDF–1.4M

Select item 1047388912.

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome

Guozhuang Li, Alanna Strong, Haojun Wang, Ji-Sun Kim, Deborah Watson, Sen Zhao, Courtney Vaccaro, Erum Hartung, Hakon Hakonarson, Terry Jianguo Zhang, Philip F. Giampietro, Nan Wu

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Med Genet A. 2022 Dec; 188(12): 3469–3481. Published online 2022 Sep 26. doi: 10.1002/ajmg.a.62972

PMCID:: PMC10473889

Abstract Article PDF–854K

Select item 414158013.

Identification of Novel ROR2 Gene Mutations in Indian Children with Robinow Syndrome

Parag M Tamhankar, Lakshmi Vasudevan, Shweta Kondurkar, Yashaswini K, Sunil Kumar Agarwalla, Mohandas Nair, Ramkumar TV, Nitin Chaubal, Vasundhara Sridhar Chennuri

J Clin Res Pediatr Endocrinol. 2014 Jun; 6(2): 79–83. Published online 2014 Jun 5. doi: 10.4274/jcrpe.1233

PMCID:: PMC4141580

Abstract Article PDF–102K

Select item 137808814.

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

P D Turnpenny, M P Bulman, T M Frayling, T K Abu-Nasra, C Garrett, A T Hattersley, S Ellard

Am J Hum Genet. 1999 Jul; 65(1): 175–182. doi: 10.1086/302464

PMCID:: PMC1378088

Summary PDF–489K

Select item 716360115.

Local modulation of the Wnt/β‐catenin and bone morphogenic protein (BMP) pathways recapitulates rib defects analogous to cerebro‐costo‐mandibular syndrome

Benedict R. H. Turner, Nobue Itasaki

J Anat. 2020 May; 236(5): 931–945. Published online 2019 Dec 29. doi: 10.1111/joa.13144

PMCID:: PMC7163601

Abstract Article PDF–2.8M

Select item 381965316.

Segmental Paternal Uniparental Disomy (patUPD) of 14q32 With Abnormal Methylation Elicits the Characteristic Features of Complete patUPD14

Melita D. Irving, Karin Buiting, Deniz Kanber, Celia Donaghue, Reiner Schulz, Amaka Offiah, Shehla N. Mohammed, Rebecca J. Oakey

Am J Med Genet A. Author manuscript; available in PMC 2013 Nov 7.

Published in final edited form as: Am J Med Genet A. 2010 Aug; 0(8): 10.1002/ajmg.a.33449. doi: 10.1002/ajmg.a.33449

PMCID:: PMC3819653

Abstract Article PDF–782K

Select item 665939717.

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Jiaqi Liu, Nan Wu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Nan Yang, Kazuki Takeda, Weisheng Chen, Weiyu Li, Renqian Du, Sen Liu, Yangzhong Zhou, Ling Zhang, Zhenlei Liu, Yuzhi Zuo, Sen Zhao, Robert Blank, Davut Pehlivan, Shuangshuang Dong, Jianguo Zhang, Jianxiong Shen, Nuo Si, Yipeng Wang, Gang Liu, Shugang Li, Yanxue Zhao, Hong Zhao, Yixin Chen, Yu Zhao, Xiaofei Song, Jianhua Hu, Mao Lin, Ye Tian, Bo Yuan, Keyi Yu, Yuchen Niu, Bin Yu, Xiaoxin Li, Jia Chen, Zihui Yan, Qiankun Zhu, Xiaolu Meng, Xiaoli Chen, Jianzhong Su, Xiuli Zhao, Xiaoyue Wang, Yue Ming, Xiao Li, Cathleen L. Raggio, Baozhong Zhang, Xisheng Weng, Shuyang Zhang, Xue Zhang, Kota Watanabe, Japan Early Onset Scoliosis Research Group, Li Jin, Yiping Shen, Nara L. Sobreira, Jennifer E. Posey, Philip Giampietro, Baylor-Hopkins Center for Mendelian Genomics, Pengfei Liu, Zhihong Wu, Shiro Ikegawa, James R. Lupski, Feng Zhang, Guixing Qiu

Genet Med. Author manuscript; available in PMC 2020 Jul 1.

Published in final edited form as: Genet Med. 2019 Jul; 21(7): 1548–1558. Published online 2019 Jan 14. doi: 10.1038/s41436-018-0377-x

PMCID:: PMC6659397

Abstract Article PDF–1.0M

Select item 843039118.

Bifid rib with fused vertebrae - A rare abnormality of the skeletal system: A case report

Soheil Mirzaei, Sare Moslemi, Faride Shafeghat, Sana Karimi, Mina Eftekharzadeh

Int J Surg Case Rep. 2021 Sep; 86: 106281. Published online 2021 Aug 5. doi: 10.1016/j.ijscr.2021.106281

PMCID:: PMC8430391

Abstract Article PDF–1.0M

Select item 694183219.

Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features

Jae-Jun Kim, Dong-Soon Choi, Insan Jang, Bong-Kuen Cha, In-Woo Park

Imaging Sci Dent. 2019 Dec; 49(4): 323–329. Published online 2019 Dec 24. doi: 10.5624/isd.2019.49.4.323

PMCID:: PMC6941832

Abstract Article PDF–1.0M

Select item 885147120.

Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies

Qianqian Li, Xiaofan Zhu, Chenguang Yu, Lin Shang, Ranran Li, Xia Wang, Yaping Yang, Jingjing Meng, Xiangdong Kong

Front Genet. 2021; 12: 780363. Published online 2022 Feb 3. doi: 10.3389/fgene.2021.780363

PMCID:: PMC8851471

Abstract Article PDF–1.5M

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