تالیفات

 

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ ANTXR2 Gene

مولف: Leila Youssefian1, 2#, Hassan Vahidnezhad1, 3#, Yahya Aghighi4#, Vahid Ziaee4, 5#, Sirous Zeinali3, 6, Maryam Abiri2, 3 and Jouni Uitto1

خلاصه: Hyaline Fibromatosis Syndrome (HFS) is a rare autosomal recessive disorder affecting primarily skin and mucous membranes. Skin appears thickened with subcutaneous nodules, associated with swollen joint contractures, red hyperpigmentation and gingival hyperplasia. Additional findings include osteopenia and osteoporosis, and the affected children are susceptible to infections and protein losing enteropathy (1). Histopathology of skin lesions shows proliferation of spindle-shaped cells, embedded in a homogeneous hyaline-like material, and biochemical alterations in type I and VI collagens as well as in glycosaminoglycans have ... سال انتشار: 2017
 

Association of STAT4 gene single nucleotide polymorphisms with Iranian juvenile-onset systemic lupus erythematosus patients

مولف: Arash Salmaninejad1, 2, Mahdi Mahmoudi1, 3, Saeed Aslani1, 3, Shiva Poursani1, Vahid Ziaee4, 5, Nima Rezaei6, 7, 8

خلاصه: SUMMARY: Salmaninejad A, Mahmoudi M, Aslani S, Poursani S, Ziaee V, Rezaei N. Association of STAT4 gene single nucleotide polymorphisms with Iranian juvenile-onset systemic lupus erythematosus patients. Turk J Pediatr 2017; 59: 144-149. Juvenile-onset systemic lupus erythematosus (JSLE) is a complex autoimmune disease, characterized by multi-organ involvement. Single nucleotide polymorphisms (SNPs) of signal transducer and activator of transcription 4 (STAT4) gene have been reported to have relationship with the risk of ... سال انتشار: 2017
 

Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ ANTXR2 Gene

Authers: Leila Youssefian1, 2#, Hassan Vahidnezhad1, 3#, Yahya Aghighi4#, Vahid Ziaee4, 5#, Sirous Zeinali3, 6, Maryam Abiri2, 3 and Jouni Uitto1

Abstract: Hyaline Fibromatosis Syndrome (HFS) is a rare autosomal recessive disorder affecting primarily skin and mucous membranes. Skin appears thickened with subcutaneous nodules, associated with swollen joint contractures, red hyperpigmentation and gingival hyperplasia. Additional findings include osteopenia and osteoporosis, and the affected children are susceptible to infections and protein losing enteropathy (1). Histopathology of skin lesions shows proliferation of spindle-shaped cells, embedded in a homogeneous hyaline-like material, and biochemical alterations in type I and VI collagens as well as in glycosaminoglycans have ... سال انتشار: 2016