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Items: 1 to 20 of 467

1.
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study
Yanlin Huang, Chang Liu, Hongke Ding, Yunan Wang, Lihua Yu, Fangfang Guo, Fake Li, Xiaomei Shi, Yan Zhang, Aihua Yin
Front Genet. 2023; 14: 1032346. Published online 2023 Feb 27. doi: 10.3389/fgene.2023.1032346
PMCID:
PMC10010437
AbstractArticlePDF–1.0M
2.
Simple curettage and allogeneic cancellous bone chip impaction grafting in solitary enchondroma of the short tubular bones of the hand
Ho Youn Park, Min Wook Joo, Youn-Ho Choi, Yang-Guk Chung, Chan Jin Park
Sci Rep. 2023; 13: 2081. Published online 2023 Feb 6. doi: 10.1038/s41598-023-29130-w
PMCID:
PMC9902569
AbstractArticlePDF–1.3M
3.
SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester
Shwetha Ramachandrappa, Abhijit Kulkarni, Hina Gandhi, Cheryl Ellis, Renata Hutt, Lesley Roberts, Rosol Hamid, Aris Papageorghiou, Sahar Mansour
Eur J Hum Genet. 2018 Mar; 26(3): 350–358. Published online 2018 Jan 12. doi: 10.1038/s41431-017-0080-4
PMCID:
PMC5839025
AbstractArticlePDF–728K
4.
Antenatal description of large 4q13.2q21.23 deletion and outcomes
Anna‐Gaëlle Giguet‐Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie‐Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret
Mol Genet Genomic Med. 2024 Feb; 12(2): e2397. Published online 2024 Feb 13. doi: 10.1002/mgg3.2397
PMCID:
PMC10864926
AbstractArticlePDF–769K
5.
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting
Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang, Wanqin Xie
BMC Med Genomics. 2023; 16: 318. Published online 2023 Dec 7. doi: 10.1186/s12920-023-01753-y
PMCID:
PMC10704717
AbstractArticlePDF–1.7M
6.
Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients
Wei Wang, Si-Hao Gao, Min Wei, Lin-Qing Zhong, Wei Liu, Shan Jian, Juan Xiao, Cai-Hui Zhang, Jian-Guo Zhang, Xiao-Feng Zeng, Wei-Bo Xia, Zheng-Qing Qiu, Hong-Mei Song
World J Pediatr. 2023; 19(7): 674–686. Published online 2023 Jan 9. doi: 10.1007/s12519-022-00674-7
PMCID:
PMC10258178
AbstractArticlePDF–1.6M
7.
Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency
Lushan Li, Fang Fu, Ru Li, Xiangyi Jing, Qiuxia Yu, Hang Zhou, You Wang, Xin Yang, Min Pan, Jin Han, Li Zhen, Dongzhi Li, Can Liao
Genes (Basel) 2023 Jan; 14(1): 140. Published online 2023 Jan 4. doi: 10.3390/genes14010140
PMCID:
PMC9858840
AbstractArticlePDF–399K
8.
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
Madeline Louise Reilly, Noor ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F. C. M. Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valérie Cormier‐Daire, Alexandre Benmerah, Outi Makitie
J Bone Miner Res. 2022 Sep; 37(9): 1642–1652. Published online 2022 Jul 19. doi: 10.1002/jbmr.4639
PMCID:
PMC9545074
AbstractArticlePDF–9.1M
9.
Excessive osteoclast activation by osteoblast paracrine factor RANKL is a major cause of the abnormal long bone phenotype in Apert syndrome model mice
Hye‐Rim Shin, Bong‐Soo Kim, Hyun‐Jung Kim, Heein Yoon, Woo‐Jin Kim, Je‐Yong Choi, Hyun‐Mo Ryoo
J Cell Physiol. 2022 Apr; 237(4): 2155–2168. Published online 2022 Jan 20. doi: 10.1002/jcp.30682
PMCID:
PMC9303724
AbstractArticlePDF–13M
10.
Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report
Fatemeh Rajabi, Ali Hosseini Bereshneh, Mahboubeh Ramezanzadeh, Masoud Garshasbi
BMC Pediatr. 2022; 22: 63. Published online 2022 Jan 26. doi: 10.1186/s12887-022-03132-5
PMCID:
PMC8790879
AbstractArticlePDF–1.2M
11.
Dominant‐negative SOX9 mutations in campomelic dysplasia
Fabiana Csukasi, Ivan Duran, Wenjuan Zhang, Jorge H. Martin, Maya Barad, Michael Bamshad, Mary Ann Weis, David Eyre, Deborah Krakow, Daniel H. Cohn
Hum Mutat. Author manuscript; available in PMC 2020 Nov 3.
Published in final edited form as: Hum Mutat. 2019 Dec; 40(12): 2344–2352. Published online 2019 Aug 26. doi: 10.1002/humu.23888
PMCID:
PMC7608528
AbstractArticlePDF–1.8M
12.
6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype
Andrew Cheng, Whitney Neufeld-Kaiser, Peter H. Byers, Yajuan J. Liu
BMC Cardiovasc Disord. 2020; 20: 137. Published online 2020 Mar 17. doi: 10.1186/s12872-020-01404-5
PMCID:
PMC7077097
AbstractArticlePDF–2.7M
13.
SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae
Tadeusz Bieganski, Peter Beighton, Maciej Lukaszewski, Krzysztof Bik, Lukasz Kuszel, Ewa Wasilewska, Kazimierz Kozlowski, Malwina Czarny-Ratajczak
Eur J Med Genet. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Eur J Med Genet. 2017 Oct; 60(10): 509–516. Published online 2017 Jul 4. doi: 10.1016/j.ejmg.2017.07.004
PMCID:
PMC5785083
AbstractArticlePDF–1.1M
14.
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
A. Hammarsjö, Z. Wang, R. Vaz, F. Taylan, M. Sedghi, K. M. Girisha, D. Chitayat, K. Neethukrishna, P. Shannon, R. Godoy, K. Gowrishankar, A. Lindstrand, J. Nasiri, M. Baktashian, P. T. Newton, L. Guo, W. Hofmeister, M. Pettersson, A. S. Chagin, G. Nishimura, L. Yan, N. Matsumoto, A. Nordgren, N. Miyake, G. Grigelioniene, S. Ikegawa
Sci Rep. 2017; 7: 15585. Published online 2017 Nov 14. doi: 10.1038/s41598-017-15442-1
PMCID:
PMC5686170
AbstractArticlePDF–6.9M
15.
WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia
Céline Huber, Sulin Wu, Ashley S. Kim, Sabine Sigaudy, Anna Sarukhanov, Valérie Serre, Genevieve Baujat, Kim-Hanh Le Quan Sang, David L. Rimoin, Daniel H. Cohn, Arnold Munnich, Deborah Krakow, Valérie Cormier-Daire
Am J Hum Genet. 2013 Nov 7; 93(5): 926–931. doi: 10.1016/j.ajhg.2013.10.007
PMCID:
PMC3824112
AbstractArticlePDF–781K
16.
DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise Cavalcanti, Anne-Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire
Am J Hum Genet. 2009 May 15; 84(5): 706–711. doi: 10.1016/j.ajhg.2009.04.016
PMCID:
PMC2681009
AbstractArticlePDF–925K
17.
Mutant cartilage oligomeric matrix protein (COMP) compromises bone integrity, joint function and the balance between adipogenesis and osteogenesis
Francoise Coustry, Karen L. Posey, Tristan Maerz, Kevin Baker, Annie M. Abraham, Catherine G. Ambrose, Sabah Nobakhti, Sandra J. Shefelbine, Xiaohong Bi, Michael Newton, Karissa Gawronski, Lindsay Remer, Alka C. Veerisetty, Mohammad G. Hossain, Frankie Chiu, Jacqueline T. Hecht
Matrix Biol. Author manuscript; available in PMC 2019 Apr 1.
Published in final edited form as: Matrix Biol. 2018 Apr; 67: 75–89. Published online 2018 Jan 5. doi: 10.1016/j.matbio.2017.12.014
PMCID:
PMC5910205
AbstractArticlePDF–1.0M
18.
Florid reactive periostitis of the clavicle: A case report and literature review
Jinshuo Tang, Xuemei Wang, Enbo Liu, Zhixin Niu, Jianlin Zuo, Tong Liu, Hongwei Li
Medicine (Baltimore) 2023 Dec 15; 102(50): e36674. Published online 2023 Dec 15. doi: 10.1097/MD.0000000000036674
PMCID:
PMC10727642
AbstractArticlePDF–494K
19.
Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review
Kai Yeung Tse, Ilham Utama Surya, Rima Irwinda, Kwok Yin Leung, Yuen Ha Ting, Ye Cao, Kwong Wai Choy
Genes (Basel) 2023 Jun; 14(6): 1203. Published online 2023 May 30. doi: 10.3390/genes14061203
PMCID:
PMC10298097
AbstractArticlePDF–977K
20.
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families
Yuying Fang, Shuo Li, Dongyi Yu
Front Genet. 2023; 14: 1075187. Published online 2023 Mar 17. doi: 10.3389/fgene.2023.1075187
PMCID:
PMC10064095
AbstractArticlePDF–3.9M

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