Literature DB >> 26493744

An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.

Christopher A Cassa1, Stacy E Smith2, William Docken3, Erin Hoffman4, Heather McLaughlin5, Sung Chun1, Ignaty Leshchiner1, Hichem Miraoui1, Soumya Raychaudhuri1, Natasha Y Frank6, Brian J Wilson7, Shamil R Sunyaev1, Richard L Maas1, Dana Vuzman1.   

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Year:  2015        PMID: 26493744      PMCID: PMC5009447          DOI: 10.1093/rheumatology/kev367

Source DB:  PubMed          Journal:  Rheumatology (Oxford)        ISSN: 1462-0324            Impact factor:   7.580


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  4 in total

1.  Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.

Authors:  Ashwin Dalal; Sri Lakshmi Bhavani G; Padma Priya Togarrati; Tatjana Bierhals; Madhusudan R Nandineni; Sumita Danda; Debashish Danda; Hitesh Shah; Sandeep Vijayan; Kalpana Gowrishankar; Shubha R Phadke; Abdul Mueed Bidchol; Anand Prahalad Rao; Sheela Nampoothiri; Kerstin Kutsche; K M Girisha
Journal:  Am J Med Genet A       Date:  2012-09-17       Impact factor: 2.802

2.  Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Authors:  J R Hurvitz; W M Suwairi; W Van Hul; H El-Shanti; A Superti-Furga; J Roudier; D Holderbaum; R M Pauli; J K Herd; E V Van Hul; H Rezai-Delui; E Legius; M Le Merrer; J Al-Alami; S A Bahabri; M L Warman
Journal:  Nat Genet       Date:  1999-09       Impact factor: 38.330

3.  Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy.

Authors:  Stephan Ehl; Markus Uhl; Reinhard Berner; Luisa Bonafé; Andrea Superti-Furga; Antje Kirchhoff
Journal:  Rheumatol Int       Date:  2003-06-18       Impact factor: 2.631

Review 4.  The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Authors:  Nuria Garcia Segarra; Laureane Mittaz; Ana Belinda Campos-Xavier; Cynthia F Bartels; Beyhan Tuysuz; Yasemin Alanay; Rolando Cimaz; Valerie Cormier-Daire; Maja Di Rocco; Hans-Christoph Duba; Nursel H Elcioglu; Francesca Forzano; Toni Hospach; Esra Kilic; Jasmin B Kuemmerle-Deschner; Geert Mortier; Sonja Mrusek; Sheela Nampoothiri; Ewa Obersztyn; Richard M Pauli; Angelo Selicorni; Romano Tenconi; Sheila Unger; G Eda Utine; Michael Wright; Bernhard Zabel; Matthew L Warman; Andrea Superti-Furga; Luisa Bonafé
Journal:  Am J Med Genet C Semin Med Genet       Date:  2012-07-12       Impact factor: 3.908

  4 in total
  4 in total

Review 1.  Progressive pseudorheumatoid dysplasia: a rare childhood disease.

Authors:  Sofia Torreggiani; Marta Torcoletti; Belinda Campos-Xavier; Francesco Baldo; Carlo Agostoni; Andrea Superti-Furga; Giovanni Filocamo
Journal:  Rheumatol Int       Date:  2018-10-16       Impact factor: 2.631

2.  CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.

Authors:  Yingjie Wang; Ke Xiao; Yuemei Yang; Zhihong Wu; Jin Jin; Guixing Qiu; Xisheng Weng; Xiuli Zhao
Journal:  Mol Genet Genomic Med       Date:  2020-04-29       Impact factor: 2.183

Review 3.  An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Authors:  Alireza Haghighi; Joel B Krier; Agnes Toth-Petroczy; Christopher A Cassa; Natasha Y Frank; Nikkola Carmichael; Elizabeth Fieg; Andrew Bjonnes; Anwoy Mohanty; Lauren C Briere; Sharyn Lincoln; Stephanie Lucia; Vandana A Gupta; Onuralp Söylemez; Sheila Sutti; Kameron Kooshesh; Haiyan Qiu; Christopher J Fay; Victoria Perroni; Jamie Valerius; Meredith Hanna; Alexander Frank; Jodie Ouahed; Scott B Snapper; Angeliki Pantazi; Sameer S Chopra; Ignaty Leshchiner; Nathan O Stitziel; Anna Feldweg; Michael Mannstadt; Joseph Loscalzo; David A Sweetser; Eric Liao; Joan M Stoler; Catherine B Nowak; Pedro A Sanchez-Lara; Ophir D Klein; Hazel Perry; Nikolaos A Patsopoulos; Soumya Raychaudhuri; Wolfram Goessling; Robert C Green; Christine E Seidman; Calum A MacRae; Shamil R Sunyaev; Richard L Maas; Dana Vuzman
Journal:  NPJ Genom Med       Date:  2018-08-13       Impact factor: 8.617

4.  The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis.

Authors:  Judith Leyens; Tim Th A Bender; Martin Mücke; Christiane Stieber; Dmitrij Kravchenko; Christian Dernbach; Matthias F Seidel
Journal:  Orphanet J Rare Dis       Date:  2021-07-22       Impact factor: 4.123

  4 in total

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