Literature DB >> 27252506

Phenotypic Variability in Majeed Syndrome.

Anand Prahalad Rao1, Dharmanand Balebail Gopalakrishna1, Xinyu Bing2, Polly J Ferguson3.   

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Year:  2016        PMID： 27252506      PMCID： PMC4898189          DOI： 10.3899/jrheum.151193

Source DB:  PubMed          Journal:  J Rheumatol        ISSN： 0315-162X            Impact factor:   4.666


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  8 in total

1.  On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia.

Authors:  H A Majeed; H El-Shanti; H Al-Rimawi; N Al-Masri
Journal:  J Pediatr       Date:  2000-09       Impact factor: 4.406

2.  Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

Authors:  P J Ferguson; S Chen; M K Tayeh; L Ochoa; S M Leal; A Pelet; A Munnich; S Lyonnet; H A Majeed; H El-Shanti
Journal:  J Med Genet       Date:  2005-07       Impact factor: 6.318

3.  The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.

Authors:  H A Majeed; M Al-Tarawna; H El-Shanti; B Kamel; F Al-Khalaileh
Journal:  Eur J Pediatr       Date:  2001-12       Impact factor: 3.183

4.  Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings.

Authors:  H A Majeed; M Kalaawi; D Mohanty; A S Teebi; M F Tunjekar; F al-Gharbawy; S A Majeed; A H al-Gazzar
Journal:  J Pediatr       Date:  1989-11       Impact factor: 4.406

5.  A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

Authors:  Zakiya S Al-Mosawi; Khulood K Al-Saad; Roya Ijadi-Maghsoodi; Hatem I El-Shanti; Polly J Ferguson
Journal:  Arthritis Rheum       Date:  2007-03

6.  Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns.

Authors:  Jimmy Donkor; Meltem Sariahmetoglu; Jay Dewald; David N Brindley; Karen Reue
Journal:  J Biol Chem       Date:  2006-12-07       Impact factor: 5.157

Review 7.  The lipin family: mutations and metabolism.

Authors:  Karen Reue
Journal:  Curr Opin Lipidol       Date:  2009-06       Impact factor: 4.776

8.  Efficacy of anti-IL-1 treatment in Majeed syndrome.

Authors:  Troels Herlin; Bente Fiirgaard; Mette Bjerre; Gitte Kerndrup; Henrik Hasle; Xinyu Bing; Polly J Ferguson
Journal:  Ann Rheum Dis       Date:  2012-10-20       Impact factor: 19.103
  8 in total
  8 in total

Review 1.  Chronic Recurrent Multifocal Osteomyelitis and Related Diseases-Update on Pathogenesis.

Authors:  Allison J Cox; Yongdong Zhao; Polly J Ferguson
Journal:  Curr Rheumatol Rep       Date:  2017-04       Impact factor: 4.592

2.  Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report.

Authors:  Zakiya Al Mosawi; Wafa Madan; Barrak Al Moosawi; Sayed Al-Wadaei; Husain Naser; Fuad Ali
Journal:  Arch Rheumatol       Date:  2019-04-22       Impact factor: 1.472

3.  Orofacial manifestations of SAPHO syndrome: a systematic review of case reports.

Authors:  Clémence Ferreira-Vilaca; Leonor Costa Mendes; Sophie-Caroline Campana; Isabelle Bailleul-Forestier; Christine Audouin-Pajot; Rémi Esclassan; Thibault Canceill
Journal:  Clin Rheumatol       Date:  2020-05-09       Impact factor: 2.980

4.  Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation.

Authors:  Gema Lordén; Itziar Sanjuán-García; Nagore de Pablo; Clara Meana; Inés Alvarez-Miguel; M Teresa Pérez-García; Pablo Pelegrín; Jesús Balsinde; María A Balboa
Journal:  J Exp Med       Date:  2016-12-28       Impact factor: 14.307

5.  Chronic Recurrent Multifocal Osteomyelitis - A Case Series from India.

Authors:  Anand Prahalad Rao; Pooja Prakash Mallya; Shashi Ranjani; Jyothi Raghuram
Journal:  Indian J Orthop       Date:  2018 Nov-Dec       Impact factor: 1.251

6.  Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.

Authors:  Jun Liu; Xu-Yun Hu; Zhi-Peng Zhao; Ruo-Lan Guo; Jun Guo; Wei Li; Chan-Juan Hao; Bao-Ping Xu
Journal:  BMC Med Genet       Date:  2019-11-14       Impact factor: 2.103

Review 7.  Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.

Authors:  Polly J Ferguson; Hatem El-Shanti
Journal:  Biomolecules       Date:  2021-02-28

8.  Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.

Authors:  Noémi B A Roy; Ahmad I Zaal; Georgina Hall; Nick Wilkinson; Melanie Proven; Simon McGowan; Ria Hipkiss; Veronica Buckle; Akhila Kavirayani; Christian Babbs
Journal:  Rheumatology (Oxford)       Date:  2020-02-01       Impact factor: 7.580
  8 in total

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