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Select item 68778221.

Diabetes mellitus y riesgo cardiovascular: recomendaciones del Grupo de Trabajo Diabetes y Enfermedad Cardiovascular de la Sociedad Española de Diabetes (SED, 2015)

Francisco Arrieta, Pedro Iglesias, Juan Pedro-Botet, Francisco Javier Tébar, Emilio Ortega, Andreu Nubiola, Jose Luis Pardo, Gonzálo Fernando Maldonado, Juan Carlos Obaya, Pablo Matute, Romina Petrecca, Nuria Alonso, Elena Sarabia, Victor Sánchez-Margalet, José Juan Alemán, Jorge Navarro, Antonio Becerra, Santiago Duran, Manuel Aguilar, Fernando Escobar-Jiménez, Grupo de Trabajo Diabetes y Enfermedad Cardiovascular de la Sociedad Española de Diabetes (SED)

Aten Primaria. 2016 May; 48(5): 325–336. Spanish. Published online 2015 May 29. doi: 10.1016/j.aprim.2015.05.002

PMCID:: PMC6877822

Abstract Article PDF–1.2M

Select item 106983392.

Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report

Yang Jiao, Jun-Duo Zhao, Xu-An Huang, Hao-Yu Cai, Jian-Xiong Shen

World J Orthop. 2023 Nov 18; 14(11): 827–835. Published online 2023 Nov 18. doi: 10.5312/wjo.v14.i11.827

PMCID:: PMC10698339

Abstract Article PDF–14M

Select item 106248543.

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

Ophélie Gourgas, Gabrielle Lemire, Alison J. Eaton, Sultanah Alshahrani, Angela L. Duker, Jingjing Li, Ricki S. Carroll, Stuart Mackenzie, Sarah M. Nikkel, Care4Rare Canada Consortium, Michael B. Bober, Kym M. Boycott, Monzur Murshed

Nat Commun. 2023; 14: 7054. Published online 2023 Nov 3. doi: 10.1038/s41467-023-41651-6

Correction in:: Nat Commun. 2024; 15: 3655.

PMCID:: PMC10624854

Abstract Article PDF–7.9M

Select item 105397104.

Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia

Xiao Yang, Tangjun Zhou, Xin Wang, Ying Xia, Xiankun Cao, Xiaofei Cheng, Yu Cao, Peixiang Ma, Hui Ma, An Qin, Jie Zhao

Int J Biol Sci. 2023; 19(15): 4709–4725. Published online 2023 Sep 4. doi: 10.7150/ijbs.82765

PMCID:: PMC10539710

Abstract Article PDF–9.5M

Select item 104926395.

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda

Guiyu Lou, Yuanyin Zhao, Huiru Zhao, Yuwei Zhang, Bingtao Hao, Litao Qin, Hongyan Liu, Shixiu Liao

Front Genet. 2023; 14: 1216592. Published online 2023 Aug 25. doi: 10.3389/fgene.2023.1216592

PMCID:: PMC10492639

Abstract Article PDF–2.3M

Select item 104496936.

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

Jian Ma, Ye Zhang, Xiaoxiao Ding, Zhijiang Liang, Chaoxiang Yang, Zhi Deng, Hui He, Zhihong Guan, Chunhua Zeng, Yunting Lin, Xianqiong Luo

Calcif Tissue Int. 2023; 113(3): 266–275. Published online 2023 Jun 6. doi: 10.1007/s00223-023-01104-0

PMCID:: PMC10449693

Abstract Article PDF–1.6M

Select item 102405657.

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)

Pauline De Kinderen, Laura Rabaut, Melanie H.A.M. Perik, Silke Peeters, Peter Ponsaerts, Bart Loeys, Geert Mortier, Josephina A.N. Meester, Aline Verstraeten

Stem Cell Res. 2023 Jun; 69: 103080. doi: 10.1016/j.scr.2023.103080

PMCID:: PMC10240565

Abstract Article

Select item 99359318.

Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type

Congli Chen, Jin Wu, Ying Liu

Front Pediatr. 2023; 11: 1068718. Published online 2023 Feb 3. doi: 10.3389/fped.2023.1068718

PMCID:: PMC9935931

Abstract Article PDF–6.9M

Select item 98746739.

Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant

Yeqing Yuan, Qiaoli Zhou, Chunli Wang, Wei Zhou, Wei Gu, Bixia Zheng

Front Pediatr. 2022; 10: 1056141. Published online 2023 Jan 11. doi: 10.3389/fped.2022.1056141

PMCID:: PMC9874673

Abstract Article PDF–9.7M

Select item 974593110.

Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature

Zan Chen, Zheyi Zhang, Fei Ye, Fei Lei, Daxiong Feng

BMC Musculoskelet Disord. 2022; 23: 1087. Published online 2022 Dec 13. doi: 10.1186/s12891-022-06064-4

PMCID:: PMC9745931

Abstract Article PDF–1.4M

Select item 962624111.

Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient

Maha Alotaibi, Ali Aldossari, Imran Khan, Leena Alotaibi

Case Rep Pediatr. 2022; 2022: 5498109. Published online 2022 Oct 25. doi: 10.1155/2022/5498109

PMCID:: PMC9626241

Abstract Article PDF–1.0M

Select item 942602512.

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Mehran Kausar, Noor Ul Ain, Farzana Hayat, Hunain Fatima, Saad Azim, Hazrat Ullah, Murva Mushtaq, Sumbal Khalid, Shahid Hussain, Sadaf Naz, Jamal Janjua, Saad Bin Amjad, Ruqia Mehmood Baig, Outi Makitie, Raheel Qamar, Shiro Ikegawa, Nishimura Gen, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi

BMC Musculoskelet Disord. 2022; 23: 818. Published online 2022 Aug 30. doi: 10.1186/s12891-022-05719-6

PMCID:: PMC9426025

Abstract Article PDF–1.1M

Select item 938632213.

Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases

Cody J Falls, Paul S Page, Garret P Greeneway, James A Stadler

Cureus. 2022 Jul; 14(7): e27020. Published online 2022 Jul 19. doi: 10.7759/cureus.27020

PMCID:: PMC9386322

Abstract Article PDF–408K

Select item 928941914.

Osteoarthritis in a fifty-year-old patient with unfused skeleton due to undiagnosed coexisting cleidocranial and spondyloepiphyseal dysplasia – Case report

Dr Mahum Zaidi, Sareema Eman Akhtar, Saad Shakil, Dr Muhammad Wasif, Dr Rabiya Siraj, Talal Almas, Joshua Ramjohn, Maha Alkhattab, Reema Ahmed, Tushar Thakur

Ann Med Surg (Lond) 2022 Jul; 79: 104066. Published online 2022 Jun 28. doi: 10.1016/j.amsu.2022.104066

PMCID:: PMC9289419

Abstract Article PDF–1.7M

Select item 921824215.

Extreme Genu Recurvatum Deformity in a Pediatric Patient With Spondyloepiphyseal Dysplasia: Gradual Correction With Z-plates and Hexapod Frame

James Seymour, Neeraj Vij, Mohan Belthur

Cureus. 2022 May; 14(5): e25265. Published online 2022 May 23. doi: 10.7759/cureus.25265

PMCID:: PMC9218242

Abstract Article PDF–1.0M

Select item 917497716.

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing

Lihong Fan, Longfei Ji, Yuqing Xu, Guosong Shen, Kefeng Tang, Zhi Li, Sisi Ye, Xueping Shen

Front Genet. 2022; 13: 827560. Published online 2022 Apr 5. doi: 10.3389/fgene.2022.827560

PMCID:: PMC9174977

Abstract Article PDF–2.4M

Select item 911432717.

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita

Moe Akahira-Azuma, Yumi Enomoto, Naoyuki Nakamura, Takayuki Yokoi, Mari Minatogawa, Noriaki Harada, Yoshinori Tsurusaki, Kenji Kurosawa

Hum Genome Var. 2022; 9: 16. Published online 2022 May 17. doi: 10.1038/s41439-022-00193-x

PMCID:: PMC9114327

Abstract Article PDF–856K

Select item 864037518.

Masaki Matsushita, Kenichi Mishima, Yasunari Kamiya, Nobuhiko Haga, Sayaka Fujiwara, Keiichi Ozono, Takuo Kubota, Taichi Kitaoka, Shiro Imagama, Hiroshi Kitoh

Prog Rehabil Med. 2021; 6: 20210048. Published online 2021 Dec 7. doi: 10.2490/prm.20210048

PMCID:: PMC8640375

Abstract Article PDF–1.0M

Select item 824021019.

Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1

Kan Wu, Zhumei Li, Yuhua Zhu, Xiaocheng Wang, Guohui Chen, Zhaohui Hou, Qiujing Zhang

BMC Med Genomics. 2021; 14: 170. Published online 2021 Jun 28. doi: 10.1186/s12920-021-01020-y

PMCID:: PMC8240210

Abstract Article PDF–1.5M

Select item 805972620.

A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family

Tangjun Zhou, Xiao Yang, Zhiqian Chen, Yifan Zhou, Xiankun Cao, Changqing Zhao, Jie Zhao

J Clin Lab Anal. 2021 Apr; 35(4): e23728. Published online 2021 Feb 16. doi: 10.1002/jcla.23728

PMCID:: PMC8059726

Abstract Article PDF–1.3M

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