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Select item 104510721.

H syndrome treated with Tocilizumab: two case reports and literature review

Robin Jacquot, Maurine Jouret, Mathieu Gerfaud Valentin, Maël Richard, Yvan Jamilloux, Florent Rousset, Jean-François Emile, Julien Haroche, Lars Steinmüller, Franck Zekre, Alice Phan, Alexandre Belot, Pascal Seve

Front Immunol. 2023; 14: 1061182. Published online 2023 Aug 11. doi: 10.3389/fimmu.2023.1061182

PMCID:: PMC10451072

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Select item 84069222.

Blau syndrome: a case report from Palestine

Salam Iriqat, Mohammed Abu Safieh, Manuel Fatouleh, Abdulsalam Alkaiyat

Pediatr Rheumatol Online J. 2021; 19: 138. Published online 2021 Aug 31. doi: 10.1186/s12969-021-00633-y

PMCID:: PMC8406922

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Select item 78965273.

La trisomie 18 ou syndrome d'Edwards en post-natal: étude descriptive au Centre Hospitalier Universitaire de Casablanca et revue de littérature

Fatima Zahra Outtaleb, Rachida Errahli, Nora Imelloul, Ghizlane Jabrane, Nadia Serbati, Hind Dehbi

Pan Afr Med J. 2020; 37: 309. French. Publication en ligne 2020 déc. 3. DOI : 10.11604/pamj.2020.37.309.26205

PMCID:: PMC7896527

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Select item 73308444.

Fgfr3 mutation disrupts chondrogenesis and bone ossification in zebrafish model mimicking CATSHL syndrome partially via enhanced Wnt/β-catenin signaling

Xianding Sun, Ruobin Zhang, Hangang Chen, Xiaolan Du, Shuai Chen, Junlan Huang, Mi Liu, Meng Xu, Fengtao Luo, Min Jin, Nan Su, Huabing Qi, Jing Yang, Qiaoyan Tan, Dali Zhang, Zhenhong Ni, Sen Liang, Bin Zhang, Di Chen, Xin Zhang, Lingfei Luo, Lin Chen, Yangli Xie

Theranostics. 2020; 10(16): 7111–7130. Published online 2020 May 30. doi: 10.7150/thno.45286

PMCID:: PMC7330844

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Select item 72734845.

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D

Jie-Yuan Jin, Dan-Yu Liu, Zi-Jun Jiao, Yi Dong, Jie Li, Rong Xiang

Biomed Res Int. 2020; 2020: 2149342. Published online 2020 May 23. doi: 10.1155/2020/2149342

PMCID:: PMC7273484

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Select item 64041116.

MET mutation causes muscular dysplasia and arthrogryposis

Hang Zhou, Chengjie Lian, Tingting Wang, Xiaoming Yang, Caixia Xu, Deying Su, Shuhui Zheng, Xiangyu Huang, Zhiheng Liao, Taifeng Zhou, Xianjian Qiu, Yuyu Chen, Bo Gao, Yongyong Li, Xudong Wang, Guoling You, Qihua Fu, Christina Gurnett, Dongsheng Huang, Peiqiang Su

EMBO Mol Med. 2019 Mar; 11(3): e9709. Published online 2019 Feb 18. doi: 10.15252/emmm.201809709

PMCID:: PMC6404111

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Select item 60991837.

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud’s Arthropathy

Luciana Martins de Carvalho, Gonza Ngoumou, Ji Woo Park, Nadja Ehmke, Nikolaus Deigendesch, Naoki Kitabayashi, Isabelle Melki, Flávio Falcäo L. Souza, Andreas Tzschach, Marcello H. Nogueira-Barbosa, Virgínia Ferriani, Paulo Louzada-Junior, Wilson Marques, Jr., Charles M. Lourencço, Denise Horn, Tilmann Kallinich, Werner Stenzel, Sun Hur, Gillian I. Rice, Yanick J. Crow

Arthritis Rheumatol. Author manuscript; available in PMC 2018 Aug 20.

Published in final edited form as: Arthritis Rheumatol. 2017 Oct; 69(10): 2081–2091. Published online 2017 Aug 22. doi: 10.1002/art.40179

PMCID:: PMC6099183

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Select item 60761888.

Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report

Heng Xie, Li Xue, Wei Hua, Bangsheng Jia, Liang Zhang, Li Li

Medicine (Baltimore) 2018 Jul; 97(28): e11283. Published online 2018 Jul 13. doi: 10.1097/MD.0000000000011283

PMCID:: PMC6076188

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Select item 59114139.

Phenotypic Heterogeneity of ZMPSTE24 Deficiency

Thomas A Cassini, Amy K Robertson, Anna G Bican, Joy D Cogan, Vickie L Hannig, John H Newman, Rizwan Hamid, John A Phillips, III, the Undiagnosed Diseases Network

Am J Med Genet A. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Am J Med Genet A. 2018 May; 176(5): 1175–1179. Published online 2018 Jan 17. doi: 10.1002/ajmg.a.38493

PMCID:: PMC5911413

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Select item 590240210.

Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome

Saliha Yilmaz, Dilek Uludağ Alkaya, Özgür Kasapçopur, Kenan Barut, Ekin S. Akdemir, Cemre Celen, Mark W. Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Günel, Beyhan Tüysüz

Mol Genet Genomic Med. 2018 Mar; 6(2): 230–248. Published online 2018 Feb 4. doi: 10.1002/mgg3.364

PMCID:: PMC5902402

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Select item 578973511.

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz

BMC Med Genet. 2018; 19: 18. Published online 2018 Jan 30. doi: 10.1186/s12881-018-0531-y

PMCID:: PMC5789735

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Select item 529046112.

The molecular basis of talin2’s high affinity toward β1-integrin

Yaxia Yuan, Liqing Li, Yanyan Zhu, Lei Qi, Latifeh Azizi, Vesa P. Hytönen, Chang-Guo Zhan, Cai Huang

Sci Rep. 2017; 7: 41989. Published online 2017 Feb 3. doi: 10.1038/srep41989

PMCID:: PMC5290461

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Select item 513580913.

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly

Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi, Xinmin Li

BMC Med Genet. 2016; 17: 91. Published online 2016 Dec 3. doi: 10.1186/s12881-016-0355-6

PMCID:: PMC5135809

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Select item 506773414.

Brothers with constrictive pericarditis – A novel mutation in a rare disease

Devendra V. Patil, Milind S. Phadke, Jivtesh S. Pahwa, Ashwin B. Dalal

Indian Heart J. 2016 Sep; 68(Suppl 2): S284–S287. Published online 2016 Apr 15. doi: 10.1016/j.ihj.2016.03.020

PMCID:: PMC5067734

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Select item 503073715.

The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature

Buddhika T. B. Wijerathne, Robert J. Meier, Suneth B. Agampodi

J Med Case Rep. 2016; 10: 258. Published online 2016 Sep 20. doi: 10.1186/s13256-016-1048-7

PMCID:: PMC5030737

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Select item 488081916.

Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

Bram Peters, Janneke H. M. Schuurs-Hoeijmakers, Joris Fuijkschot, Annette Reimer, Michiel van der Flier, Dorien Lugtenberg, Esther P.A.H. Hoppenreijs

Pediatr Rheumatol Online J. 2016; 14: 32. Published online 2016 May 25. doi: 10.1186/s12969-016-0093-5

PMCID:: PMC4880819

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Select item 488034017.

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Hao Deng, Sheng Deng, Hongbo Xu, Han-Xiang Deng, Yulan Chen, Lamei Yuan, Xiong Deng, Shengbo Yang, Liping Guan, Jianguo Zhang, Hong Yuan, Yi Guo

PLoS One. 2016; 11(5): e0155180. Published online 2016 May 25. doi: 10.1371/journal.pone.0155180

PMCID:: PMC4880340

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Select item 457028518.

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck, Colby T. Marvin, Margaret J. McMillin, Kathryn M. Shively, Tanya M. Harrell, Kati J. Buckingham, Carlos A. Bacino, Mahim Jain, Yasemin Alanay, Susan A. Berry, John C. Carey, Richard A. Gibbs, Brendan H. Lee, Deborah Krakow, Jay Shendure, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad

Am J Hum Genet. 2015 May 7; 96(5): 841–849. doi: 10.1016/j.ajhg.2015.04.004

PMCID:: PMC4570285

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Select item 431406819.

Anti-Lubricin Monoclonal Antibodies Created Using Lubricin-Knockout Mice Immunodetect Lubricin in Several Species and in Patients with Healthy and Diseased Joints

Minrong Ai, Yajun Cui, Man-Sun Sy, David M. Lee, Ling Xiu Zhang, Katherine M. Larson, Kyle C. Kurek, Gregory D. Jay, Matthew L. Warman

PLoS One. 2015; 10(2): e0116237. Published online 2015 Feb 2. doi: 10.1371/journal.pone.0116237

PMCID:: PMC4314068

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Select item 421649520.

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome

Rajashree S. Nandagopalan, Shubha R. Phadke, Ashwin B. Dalal, Prajnya Ranganath

Indian J Med Res. 2014 Aug; 140(2): 221–226.

PMCID:: PMC4216495

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